检索问题
年轻人为了防止心源性猝死，需要做哪些检查？排查哪些疾病？
心源性猝死（SCD）是运动员在运动过程中死亡的主要原因，在年轻人中，SCD通常与遗传性、结构性或电生理性心脏疾病有关。尽管运动员被认为是社会上最健康的一部分人，但潜在的心脏疾病仍可能导致致命性心律失常的发生。为了预防年轻人（包括运动员和普通人群）的SCD，需要进行一系列的检查来排查相关疾病。
SCD的流行病学和风险因素
在过去的二十年中，发达国家年轻人（18-50岁）中肥胖、缺乏运动和不良饮食等心血管疾病风险因素的患病率很高。物质滥用（阿片类药物、可卡因、电子烟和合成代谢类固醇）在年轻人中的比例也在增加。这些因素可能导致年轻人心血管疾病的发病率保持稳定或上升，与50岁以上成年人发病率下降的趋势形成对比。在年轻运动员中，患有心血管疾病的SCD风险是非运动员的2.5倍。能量饮料的消费也与年轻健康成年人动脉内皮功能受损有关，这可能与运动时饮用能量饮料相关的死亡案例有关。
主要检查方法
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病史询问和体格检查（History and Physical Examination）
- 个人病史和家族病史： 这是SCD筛查的关键组成部分。询问有关心血管疾病、晕厥、心悸、胸痛、运动不耐受或家族SCD史的信息非常重要。Brugada综合征（BrS）在儿童期的表现谱很广，需要系统化但个体化的评估，包括家族SCD史和晕厥风险等特定特征。肥厚性心肌病（HCM）患者的家族SCD史是重要的风险因素。
- 体格检查： 包括心肺听诊、血压测量等常规检查，以发现任何可能提示心脏异常的体征。
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心电图（ECG）
- 静息12导联心电图： 这是识别或提示大多数与SCD相关的潜在心脏疾病的异常发现的重要工具。在意大利，全国性的运动员赛前筛查项目自1982年实施，其中就包括静息12导联心电图。最新的国际共识建议，医生应具备解释运动员心电图的知识和能力，以区分生理性适应和病理性异常。
- 争论与指南差异： 尽管心电图在检测可能导致SCD的细微异常方面具有重要作用，但其常规实施在专家中仍存在争议。美国心脏协会（AHA）的指南不包括在赛前筛查中进行心电图检查，而美国儿科学会（AAP）2021年的政策声明则将心电图和心脏病学转诊纳入了风险评估和管理元素组合中。一些研究分析表明，纳入心电图可以提高筛查的敏感性和特异性，但也有其他研究显示与单独进行病史和体格检查相比，没有显著益处。然而，意大利的长期研究表明，自全国性系统筛查引入以来，年轻竞技运动员的SCD发生率显著下降，这主要归因于心肌病导致的SCD病例减少，而这与赛前筛查中识别出更多心肌病运动员有关。
- 心电图异常： 心电图可以揭示Brugada综合征的三种特征性模式，这些模式可能自发出现，也可能在钠通道阻滞剂激发后出现。这些心电图变化通常是间歇性的，可能由发烧或钠通道阻滞剂激发。
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负荷试验（Stress Testing）
- 在一些赛前筛查项目中，如意大利的长期项目，会包含负荷试验，特别是在有异常发现的运动员中会进行额外的检查。
- 对于无症状的预激综合征（WPW）儿童，运动试验和经食道电生理检查（EPS）可用于评估预后，尽管运动试验在判断AP的最大传导率方面可能有限。
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心脏超声心动图（Echocardiography）
- 超声心动图是区分运动员心脏和轻度肥厚性心肌病（HCM）的首选方法。运动员心脏通常表现为偏心性双心室肥厚，室壁厚度小于15毫米，左心室适度扩张（左心室舒张末期内径可达58毫米），舒张功能正常，甚至早期舒张充盈增加。
- HCM通常表现为不对称性左心室肥厚，左心室直径减小，高达70%的病例在负荷超声心动图时可见左心室流出道梗阻。在大多数HCM患者中存在舒张功能障碍（主要是舒张弛缓障碍），这与运动员心脏不符。
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电生理学检查（Electrophysiological Study, EPS）
- 对于一些特定的情况，如无症状的预激综合征儿童，经食道电生理学检查是确定预后的必要手段。
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心脏磁共振成像（Cardiac MRI）
- 如果超声心动图无法明确诊断，心脏磁共振成像可以提供进一步的信息。
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基因检测（Genetic Testing）
- SCD的许多病因是遗传性的。肥厚性心肌病是由14个编码肌节蛋白的基因突变引起的。基因检测可以揭示HCM患者的肌节蛋白（SP）基因变异与年龄、家族史、形态和生存率之间的关联。
- 对于Brugada综合征，尽管存在遗传性心律失常综合征的认知，但大多数病例并非由单一致病基因变异引起。在儿童Brugada综合征的诊断和风险分层中，基因检测的作用和关注点也需要被考虑。
需要排查的疾病
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心肌病（Cardiomyopathies）
- 肥厚性心肌病（HCM）： 这是年轻运动员SCD最常见的病因。它是一种最常见的遗传性心血管疾病，患病率约为0.2%。HCM的特征通常是不对称性左心室肥厚。带有肌节蛋白变异的HCM患者与无肌节蛋白变异的患者相比，表现出更年轻的年龄、更高的HCM家族史和SCD家族史、不对称性室间隔肥厚、更大的左心室最大壁厚以及心血管死亡率增加。
- 致心律失常性右心室心肌病（Arrhythmogenic Right Ventricular Dysplasia）： 也是年轻运动员SCD的常见原因之一。
- 非缺血性左心室瘢痕伴室性心律失常： 在意大利的赛前筛查中也被识别为SCD风险疾病之一。
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离子通道病（Ion Channelopathies）
- Brugada综合征（BrS）： 这种临床实体自1992年以来就存在，与年轻人（特别是年轻男性）SCD的高风险相关。其特征是倾向于晕厥和心脏骤停，主要发生在睡眠期间。BrS的诊断和风险分层取决于患者的症状、心电图、家族史和电生理可诱导性。
- 预激综合征（Wolff-Parkinson-White, WPW）： 虽然相对罕见，但在无症状儿童中，EPS可能诱发心动过速和危险形式（18%），这可能导致SCD，即使经过5年的随访，仍有一例发生心脏骤停。
- 其他通道病： 如长QT综合征等，也可能导致SCD。
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先天性冠状动脉异常（Congenital Coronary Anomalies）
- 这是年轻运动员SCD的常见原因之一。在意大利的赛前筛查中，先天性心脏病被识别为SCD风险疾病之一。
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心肌炎（Myocarditis）和心脏结节病（Cardiac Sarcoidosis）
- 心肌炎可导致心律失常和SCD。心脏结节病也是SCD的潜在原因。
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心脏震荡（Commotio Cordis）
- 虽然不是结构性心脏病，但心脏震荡是因非穿透性胸部撞击引发的致死性心律失常，通常发生在年轻运动员中，特别是在没有潜在心脏病的情况下。
综合筛查和管理策略
- 多维度评估： AAP的2021年政策声明指导使用多种元素来确定和管理风险，包括其自身的4问题筛查工具、AHA的14要素年轻竞技运动员赛前心血管筛查、个人病史、家族病史、体格检查、心电图以及在需要时进行心脏病学转诊。
- 国际指南： 国际指南在传统上侧重于对心脏病患者的禁赛，但最近采取了更宽松的态度，基于对风险的仔细评估和共享决策方法。
- 医生专业知识： 医生在运动员心电图解释方面的专业知识至关重要，以区分正常生理适应和提示潜在病理的明显异常发现。
- 成本效益： 意大利的赛前筛查项目显示，尽管每诊断的估计成本为73,312欧元，但在长期随访中，筛查儿童中运动相关心脏骤停的发生率很低，证明了其价值。
结论
为了防止年轻人发生心源性猝死，应采取全面的筛查方法，包括详细的个人和家族病史询问、全面的体格检查、静息12导联心电图。在发现异常或有高风险因素时，应进一步进行负荷试验、心脏超声心动图、心脏磁共振成像和基因检测等高级检查。排查的疾病主要包括肥厚性心肌病、致心律失常性右心室心肌病、先天性冠状动脉异常、离子通道病（如Brugada综合征、预激综合征）、心肌炎和心脏结节病。这些措施有助于早期识别潜在风险，从而采取适当的干预措施，挽救生命并指导患者进行安全的运动参与。对于有BrS个人和/或家族诊断的年轻人群，最大限度地减少过度诊断和过度治疗的关键是进行系统化但个体化的评估。
References
1International criteria for electrocardiographic interpretation in athletes: Consensus statement.PubMed
Jonathan A Drezner, Sanjay Sharma, Aaron Baggish, et al.
Br J Sports Med. 2017 May;51(9):704-731. doi: 10.1136/bjsports-2016-097331. Epub 2017 Mar 3.
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete. A critical need exists for physician education in modern ECG interpretation that distinguishes normal physiological adaptations in athletes from distinctly abnormal findings suggestive of underlying pathology. Since the original 2010 European Society of Cardiology recommendations for ECG interpretation in athletes, ECG standards have evolved quickly, advanced by a growing body of scientific data and investigations that both examine proposed criteria sets and establish new evidence to guide refinements. On 26-27 February 2015, an international group of experts in sports cardiology, inherited cardiac disease, and sports medicine convened in Seattle, Washington (USA), to update contemporary standards for ECG interpretation in athletes. The objective of the meeting was to define and revise ECG interpretation standards based on new and emerging research and to develop a clear guide to the proper evaluation of ECG abnormalities in athletes. This statement represents an international consensus for ECG interpretation in athletes and provides expert opinion-based recommendations linking specific ECG abnormalities and the secondary evaluation for conditions associated with SCD.
2Sudden cardiac death in the young: An update for NPs.PubMed
Julianne Doucette, Ruth Rosenblum
Nurse Pract. 2023 Mar 1;48(3):21-28. doi: 10.1097/01.NPR.0000000000000013.
NPs can identify risk for sudden cardiac death in children during physical exams to prevent tragedy. The updated American Academy of Pediatrics 2021 policy statement on this issue provides guidance on using a combination of elements to determine and manage risk, including the organization's own 4-question screening tool, the American Heart Association 14-Element Preparticipation Cardiovascular Screening of Young Competitive Athletes, personal history, family history, physical exam, ECG, and cardiology referral as indicated.
3Perceptions of adolescents and young adults with allergy and/or asthma and their parents on EAACI guideline recommendations about transitional care: A European survey.PubMed
Ekaterina Khaleva, Rebecca Knibb, Audrey DunnGalvin, et al.
Allergy. 2022 Apr;77(4):1094-1104. doi: 10.1111/all.15109. Epub 2021 Nov 1.
BACKGROUND: The European Academy of Allergy and Clinical Immunology has developed a guideline to provide evidence-based recommendations for healthcare professionals to support the transitional care of adolescents and young adults (AYA) with allergy and/or asthma. The goal of this work was to ensure that the draft recommendations are also important for patients. METHODS: We surveyed patients aged 11-25 years with allergy and/or asthma and their parents across Europe between 17 February and 16 March 2020. The multilingual survey was distributed through national allergy and asthma patient organizations in Europe as well as through social media. RESULTS: A total of 1210 responses from 24 European countries were collected. There were 415 (34.3%) AYA and 795 (65.7%) parents. The majority of AYA (72.3%) and parents (81.9%) were female. Patients had a history of asthma (61.1%), allergic rhinoconjunctivitis (54.1%), food allergy (53.8%), atopic eczema (42.6%) and anaphylaxis (28.8%). All recommendations achieved the median score of either 'important' or 'very important'. The least supported recommendations were the use of joint clinics with both paediatric and adult physicians attending and the use of web-based or mobile technologies for communication with the AYA. The most supported recommendation was checking that the AYA is knowledgeable and compliant with their prescribed medication. Qualitative analysis revealed conditional approval for some recommendations. CONCLUSIONS: There was agreement from patients and parents on the importance of the draft recommendations on transitional care for AYA with allergy and/or asthma and their parents. The recommendations now need to be implemented into clinical practice across Europe.
4Brugada syndrome.PubMed
Jessica Jellins, Mitchell Milanovic, David-Joel Taitz, et al.
Hong Kong Med J. 2013 Apr;19(2):159-67.
As a clinical entity the Brugada syndrome has existed since 1992 and has been associated with a high risk of sudden cardiac death predominately in younger males. Patients can present with symptoms (ie syncope, palpitations, aborted sudden cardiac death) and asymptomatically. Its three characteristic electrocardiographic patterns can occur both spontaneously or after provocation with sodium channel-blocking agents. Risk stratification and the need for treatment depend on the patient's symptoms, electrocardiography, family history, and electrophysiological inducibility to discern if treatment by implantable cardioverter defibrillator, the only effective treatment to date, is appropriate. This review focuses on Brugada syndrome and various aspects of the disease including proposed mechanisms, epidemiology, clinical presentations, genetics, diagnosis, risk stratification, and treatment options.
5Value of screening for the risk of sudden cardiac death in young competitive athletes.PubMed
Patrizio Sarto, Alessandro Zorzi, Laura Merlo, et al.
Eur Heart J. 2023 Mar 21;44(12):1084-1092. doi: 10.1093/eurheartj/ehad017.
AIMS: This study aimed to report the long-term findings of the Italian programme of cardiovascular preparticipation screening (PPS) in young, competitive athletes. METHODS AND RESULTS: The study assessed the diagnostic yield for diseases at risk of sudden cardiac death (SCD), the costs of serial evaluations, and the long-term outcomes of PPS in a large population of Italian children (age range, 7-18 years). The PPS was repeated annually and included medical history, physical examination, resting electrocardiogram, and stress testing; additional tests were reserved for athletes with abnormal findings. Over an 11-year study period, 22 324 consecutive children [62% males; mean age, 12 (interquartile range, 10-14) years at first screening] underwent a total of 65 397 annual evaluations (median 2.9/child). Cardiovascular diseases at risk of SCD were identified in 69 children (0.3%) and included congenital heart diseases (n = 17), channelopathies (n = 14), cardiomyopathies (n = 15), non-ischaemic left ventricular scar with ventricular arrhythmias (n = 18), and others (n = 5). At-risk cardiovascular diseases were identified over the entire age range and more frequently in children ≥12 years old (n = 63, 91%) and on repeat evaluation (n = 44, 64%). The estimated cost per diagnosis was 73 312€. During a follow-up of 7.5 ± 3.7 years, one child with normal PPS findings experienced an episode of resuscitated cardiac arrest during sports activity (event rate of 0.6/100.000 athletes/year). CONCLUSION: The PPS programme led to the identification of cardiovascular diseases at risk of SCD over the whole study age range of children and more often on repeat evaluations. Among screened children, the incidence of sport-related cardiac arrest during long-term follow-up was low.
6Sudden Cardiac Death in Young Athletes: JACC State-of-the-Art Review.PubMed
Gherardo Finocchiaro, Joseph Westaby, Mary N Sheppard, et al.
J Am Coll Cardiol. 2024 Jan 16;83(2):350-370. doi: 10.1016/j.jacc.2023.10.032.
Athletes epitomize the healthiest segment of society. Despite this premise, sudden cardiac death may occur in apparently healthy athletes, attracting significant attention not only in the medical community but also in laypersons and media. The incidence of sudden cardiac death is variably reported, and epidemiological burden differs among cohorts. Athletes appear to be at risk of developing fatal arrhythmias when harboring a quiescent cardiac disorder. Primary cardiomyopathies, ion channelopathies, and coronary artery anomalies are prevalent causes in young individuals. Cardiac assessment of athletes can be challenging because these individuals exhibit a plethora of electrical, structural, and functional physiological changes that overlap with cardiac pathology. A diagnosis of cardiac disease in a young athlete is not necessarily an indication to terminate competition and sports participation. International guidelines, traditionally focused on disqualification of individuals with cardiac disease, have recently adopted a more liberal attitude, based on a careful assessment of the risk and on a shared-decision making approach.
7Educational needs of adolescents with congenital heart disease: Impact of a transition intervention programme.PubMed
Magalie Ladouceur, Johanna Calderon, Maladon Traore, et al.
Arch Cardiovasc Dis. 2017 May;110(5):317-324. doi: 10.1016/j.acvd.2017.02.001. Epub 2017 Mar 22.
BACKGROUND: Adolescents and young adults with congenital heart disease (CHD) have complex health needs and require lifelong follow-up. Interventions to facilitate the paediatric-to-adult healthcare transition are recommended, but outcomes remain largely under-investigated. AIMS: To identify the educational needs and the impact of a transition intervention on knowledge and self-management skills in adolescents and young adults with CHD. METHODS: From September 2014 to May 2015, 115 adolescents and young adults with CHD (mean age 17±2 years; 47 girls) were consecutively enrolled. Among these, 22 had participated in a structured educational programme in the previous 11±4 months (education group) and 93 had not (comparison group). Knowledge about their health status was assessed using a targeted CHD questionnaire. RESULTS: The mean overall health knowledge score (maximum of 20) in the education group was significantly higher than in the comparison group (11.7±3.5 vs. 8.6±3.2; P<0.001). We observed significant gaps in knowledge in the comparison group: e.g. 61.3% vs. 90.0% knew their condition name (P=0.01), 21.5% vs. 63.6% were aware of recommended follow-up (P=0.004), and 12.8% vs. 75.0% of girls knew to check their heart condition before pregnancy (P<0.01). In multivariable analysis, after adjustment for age, structured CHD education and higher academic attainment were significant determinants of health-related knowledge (P<0.01). CONCLUSION: Education during adolescent-to-adult transition has a significant impact on health knowledge. Structured CHD educational programmes could improve understanding and prevent potential future complications.
8Brugada syndrome - minimizing overdiagnosis and over treatment in children.PubMed
M Cecilia Gonzalez Corcia
Curr Opin Cardiol. 2022 Jan 1;37(1):80-85. doi: 10.1097/HCO.0000000000000941.
PURPOSE OF REVIEW: Is to summarise the new contributions toward the understanding of the broad spectrum of manifestations of Brugada syndrome (BrS) during the first years of life. The review encompasses the screening of the asymptomatic patient referred due to family history in one extreme of the spectrum, and also the rare child with early clinical expression of the disease on the opposite side. RECENT FINDINGS: Involve specific features of pediatric BrS including the risk related to a positive family history of sudden cardiac death, the risk of presenting with syncope and the multiple diagnostic challenges of the disease. We included some of the most controversial aspects of the diagnosis and risk stratification, encompassing noninvasive studies (Holter monitors, exercise test, implantable loop recorders, and provocative tests), as well as invasive stratification during the first years of life. Finally, the role and concerns of genetic testing in this age group are commented upon. SUMMARY: The main key to minimize overdiagnosis and overtreatment in the young population with a personal and/or family diagnosis of BrS is to perform a systematic but also individualized assessment. Appropriate diagnostic guidelines need to be created and age-specific risk stratification algorithms built for the young patient both with suspected and confirmed BrS.
9Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program.PubMed
Domenico Corrado, Cristina Basso, Andrea Pavei, et al.
JAMA. 2006 Oct 4;296(13):1593-601. doi: 10.1001/jama.296.13.1593.
CONTEXT: A nationwide systematic preparticipation athletic screening was introduced in Italy in 1982. The impact of such a program on prevention of sudden cardiovascular death in the athlete remains to be determined. OBJECTIVE: To analyze trends in incidence rates and cardiovascular causes of sudden death in young competitive athletes in relation to preparticipation screening. DESIGN, SETTING, AND PARTICIPANTS: A population-based study of trends in sudden cardiovascular death in athletic and nonathletic populations aged 12 to 35 years in the Veneto region of Italy between 1979 and 2004. A parallel study examined trends in cardiovascular causes of disqualification from competitive sports in 42,386 athletes undergoing preparticipation screening at the Center for Sports Medicine in Padua (22,312 in the early screening period [1982-1992] and 20,074 in the late screening period [1993-2004]). MAIN OUTCOME MEASURES: Incidence trends of total cardiovascular and cause-specific sudden death in screened athletes and unscreened nonathletes of the same age range over a 26-year period. RESULTS: During the study period, 55 sudden cardiovascular deaths occurred in screened athletes (1.9 deaths/100,000 person-years) and 265 sudden deaths in unscreened nonathletes (0.79 deaths/100,000 person-years). The annual incidence of sudden cardiovascular death in athletes decreased by 89% (from 3.6/100,000 person-years in 1979-1980 to 0.4/100,000 person-years in 2003-2004; P for trend < .001), whereas the incidence of sudden death among the unscreened nonathletic population did not change significantly. The mortality decline started after mandatory screening was implemented and persisted to the late screening period. Compared with the prescreening period (1979-1981), the relative risk of sudden cardiovascular death in athletes was 0.56 in the early screening period (95% CI, 0.29-1.15; P = .04) and 0.21 in the late screening period (95% CI, 0.09-0.48; P = .001). Most of the reduced mortality was due to fewer cases of sudden death from cardiomyopathies (from 1.50/100,000 person-years in the prescreening period to 0.15/100,000 person-years in the late screening period; P for trend = .002). During the study period, 879 athletes (2.0%) were disqualified from competition due to cardiovascular causes at the Center for Sports Medicine: 455 (2.0%) in the early screening period and 424 (2.1%) in the late screening period. The proportion of athletes who were disqualified for cardiomyopathies increased from 20 (4.4%) of 455 in the early screening period to 40 (9.4%) of 424 in the late screening period (P = .005). CONCLUSIONS: The incidence of sudden cardiovascular death in young competitive athletes has substantially declined in the Veneto region of Italy since the introduction of a nationwide systematic screening. Mortality reduction was predominantly due to a lower incidence of sudden death from cardiomyopathies that paralleled the increasing identification of athletes with cardiomyopathies at preparticipation screening.
10[Sudden cardiac death in athletes: is it always not preventable?].PubMed
Federica Vernuccio, Giuseppe Grutta, Giovanni Fazio
Recenti Prog Med. 2014 Nov;105(11):410-4. doi: 10.1701/1680.18400.
Sudden cardiac death (SCD) in athletes is a rare but tragic event particularly considering that in some cases it is preventable. In young athletes with cardiovascular disease the risk of SCD is 2,5 times higher than in non-athletes. In young athletes (<35 years old), the most common causes of SCD are related to pre-existing cardiovascular disorders including hypertrophic cardiomyopathy, congenital coronary anomalies, arrhythmogenic right ventricular dysplasia, commotio cordis, some channelopathies and cardiac sarcoidosis. Actually there are two approches to pre-participation athletic screening: the American one based on anamnesis and physical examination and the European one based on anamnesis, physical examination and ECG at rest. However, some disorders responsible for SCD can't be suspected through these exams and it could be useful to implement preparticipation athletic screening.
11Epidemiology of cardiovascular disease in young individuals.PubMed
Charlotte Andersson, Ramachandran S Vasan
Nat Rev Cardiol. 2018 Apr;15(4):230-240. doi: 10.1038/nrcardio.2017.154. Epub 2017 Oct 12.
In the past 2 decades, a high prevalence of risk factors for cardiovascular disease, such as obesity, physical inactivity, and poor diet, has been observed among young individuals living in developed countries. The rate of substance abuse (opioids, cocaine, electronic cigarettes, and anabolic steroids) is also increasing among young adults, whereas cigarette smoking might be declining. Among younger individuals (aged 18-50 years), the incidence of cardiovascular diseases over the same time period has either been steady or has increased, in contrast to the trend towards a lower incidence of cardiovascular disease in adults aged >50 years. Current observations might, therefore, be used to forecast a potential epidemic of cardiovascular disease in the near future as the younger segment of the population ages. In this Review, we discuss the burden of risk factors for ischaemic heart disease, heart failure, atrial fibrillation, and sudden cardiac death among young adults aged 18-45 years. Furthermore, we discuss the prevalence, incidence, and temporal trends of various cardiovascular diseases among this young segment of the population.
12Consumption of energy beverage is associated with attenuation of arterial endothelial flow-mediated dilatation.PubMed
John P Higgins, Benjamin Yang, Nikki E Herrin, et al.
World J Cardiol. 2017 Feb 26;9(2):162-166. doi: 10.4330/wjc.v9.i2.162.
AIM: To investigate whether consumption of an energy drink will acutely impair endothelial function in young healthy adults. METHODS: Energy drinks are being consumed more and more worldwide, and have been associated with some deaths in adolescents and young adults, especially when consumed while exercising. After fasting and not smoking for at least 8 h prior, eleven medical students (9 males) received an electrocardiogram, blood pressure and pulse check, and underwent baseline testing (BL) of endothelial function using the technique of endothelium-dependent flow mediated dilatation (FMD) with high-resolution ultrasound (according to recommended guidelines of the University of Wisconsin Atherosclerosis Imaging Research Program Core Laboratory). The subjects then drank an energy beverage (EB), a 24-oz can of Monster Energy, and the above was repeated at 90 min after consumption. The relative FMD (%) was calculated as the ratio between the average post-cuff release and the baseline diameter. Each image was checked for quality control, and each artery diameter was measured from the media to media points by two experts, 3 measurements at the QRS complex, repeated on 3 separate beats, and then all were averaged. RESULTS: Subjects characteristics averages (given with standard deviations) include: Age 24.5 ± 1.5 years, sex 9 male and 2 female, weight 71.0 ± 9.1 kg, height 176.4 ± 6.0 cm, BMI 22.8 ± 2.7 kg/m. The hemodynamics were as follows, BL EB group respectively (mean ± SD): Heart rate 65.2 ± 11.3 68.2 ± 11.8 beats per minute, systolic blood pressure 114.0 ± 10.4 mmHg 114.1 ± 10.4 mmHg, diastolic blood pressure 68.8 ± 9.3 mmHg 70.6 ± 7.1 mmHg; all were not significantly different. However after drinking the EB, a significantly attenuated peak FMD response was measured (mean ± SD): BL group 5.9% ± 4.6% EB group 1.9% ± 2.1%; = 0.03). Given the increased consumption of energy beverages associated with exercise in young adults, more research is needed. CONCLUSION: Energy beverage consumption has a negative impact on arterial endothelial function in young healthy adults.
13Can Sudden Cardiac Death Risk in the Young be Identified in the Emergency Department?PubMed
Kory S London, Christina Hartwell, Sergi Cesar, et al.
J Emerg Nurs. 2020 Jan;46(1):105-110. doi: 10.1016/j.jen.2019.09.009. Epub 2019 Nov 14.
Sudden cardiac death in the young is devastating for the family and the community. Although it has diverse etiologies, many are inherited. Discovering the disease in 1 patient offers the chance to save otherwise asymptomatic family members. Although some diseases can be discovered during autopsy, others require electrocardiograms for diagnosis, making it difficult to estimate the prevalence of disease and cause of death. Careful assessment of the history of present illness, family history, and electrocardiogram can guide clinical teams toward sometimes rare and difficult diagnoses. The purpose of this review article is to summarize the bench to bedside diagnosis of inherited dysrhythmia syndromes, which if missed on first presentation to the emergency department, have significant implications for the patient and the entire family.
14The cardiac preparticipation sports evaluation.PubMed
Denis J Donovan, Joanna E Nelson, Michael A Monaco
Curr Opin Pediatr. 2023 Oct 1;35(5):546-552. doi: 10.1097/MOP.0000000000001284. Epub 2023 Aug 8.
PURPOSE OF REVIEW: Sudden cardiac death (SCD) is the leading cause of death in young athletes during sports participation. Preparticipation cardiovascular screening aims to identify those at an increased risk of SCD. This review aims to provide a background of SCD in young athletes, to discuss the various screening recommendations of major medical societies, and to review recent evidence and current practice. RECENT FINDINGS: Numerous studies have evaluated various preparticipation screening practices, particularly regarding the inclusion of ECG as part of an initial evaluation to identify conditions with an increased risk of SCD. Some analyses have shown ECG inclusion to provide increased screening sensitivity and specificity, though others have shown no benefit when compared with evaluation with history and physical examination alone. Furthermore, in countries for which more extensive screening protocols have been employed, postimplementation statistics have not shown a significant decrease in SCD. SUMMARY: SCD in young athletes primarily results from underlying cardiac disease. Various preparticipation screening recommendations exist globally, with the common goal of decreasing the rates of SCD by identifying youth at risk during sports participation. Current guidelines in the United States support universal preparticipation evaluation using history and physical examination, with cardiology referral if abnormalities are identified.
15Brugada Syndrome.PubMed
Andrew D Krahn, Elijah R Behr, Robert Hamilton, et al.
JACC Clin Electrophysiol. 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001.
Brugada syndrome (BrS) is an "inherited" condition characterized by predisposition to syncope and cardiac arrest, predominantly during sleep. The prevalence is ∼1:2,000, and is more commonly diagnosed in young to middle-aged males, although patient sex does not appear to impact prognosis. Despite the perception of BrS being an inherited arrhythmia syndrome, most cases are not associated with a single causative gene variant. Electrocardiogram (ECG) findings support variable extent of depolarization and repolarization changes, with coved ST-segment elevation ≥2 mm and a negative T-wave in the right precordial leads. These ECG changes are often intermittent, and may be provoked by fever or sodium channel blocker challenge. Growing evidence from cardiac imaging, epicardial ablation, and pathology studies suggests the presence of an epicardial arrhythmic substrate within the right ventricular outflow tract. Risk stratification aims to identify those who are at increased risk of sudden cardiac death, with well-established factors being the presence of spontaneous ECG changes and a history of cardiac arrest or cardiogenic syncope. Current management involves conservative measures in asymptomatic patients, including fever management and drug avoidance. Symptomatic patients typically undergo implantable cardioverter defibrillator insertion, with quinidine and epicardial ablation used for patients with recurrent arrhythmia. This review summarizes our current understanding of BrS and provides clinicians with a practical approach to diagnosis and management.
16Athlete's heart or hypertrophic cardiomyopathy?PubMed
Jörg Lauschke, Bernhard Maisch
Clin Res Cardiol. 2009 Feb;98(2):80-8. doi: 10.1007/s00392-008-0721-2. Epub 2008 Oct 13.
Intensive endurance training is able to cause a distinct pattern of functional and structural changes of the cardiovascular system. In an unknown proportion of athletes a so called "athlete's heart" develops. There is an overlap between this type of physiologic cardiac hypertrophy and mild forms of hypertrophic cardiomyopathy (HCM), the most common genetic disorder of the cardiovascular system with a prevalence of 0.2%. HCM is caused by mutations in 14 genes coding for sarcomere proteins. In the literature up to 50% of cases of sudden cardiac death (SCD) in younger sportsmen were connected to hypertrophic cardiomyopathy. It is therefore the most common cause of SCD in highly trained young athletes. Because of this data a great interest in distinguishing these two diagnoses exists. Apart from clinical examination and some non-specific ECG-changes, Echocardiography is the method of choice. The athlete's heart shows an eccentric biventricular hypertrophy with wall thicknesses under 15 mm and a moderately dilated left ventricle (LVEDD up to 58 mm). HCM is commonly characterized by asymmetric left ventricular hypertrophy with a reduced LV-diameter. In up to 70% of cases left ventricular outflow tract obstruction is evident during stress echocardiography. Systolic function is normal in highly trained athletes and the majority of HCM patients as well. There are important differences regarding diastolic filling patterns. Physiological hypertrophy is consistent with a normal diastolic function with even increased early diastolic filling. In case of HCM diastolic dysfunction (mostly relaxation disturbances) occurs in the majority of patients and is therefore inconsistent with an athlete's heart. If the diagnosis could not be stated using echocardiography, methods like cardiac-MRI, metabolic exercise testing, histological studies of endomyocardial biopsies and genetic testing can provide further information. A correct diagnosis may on the one hand prevent some athletes from sudden cardiac death. On the other hand sportsmen with an athlete's heart are reassured and able to continue as competitors. New insights into electrophysiological changes during physiological hypertrophy could probably change this view.
17Interest of non-invasive and semi-invasive testings in asymptomatic children with pre-excitation syndrome.PubMed
B Brembilla-Perrot, F Chometon, L Groben, et al.
Europace. 2007 Sep;9(9):837-43. doi: 10.1093/europace/eum153. Epub 2007 Aug 1.
AIMS: To determine the feasibility and the results of exercise testing (ET) and electrophysiological study (EPS) in outpatient asymptomatic children with a Wolff-Parkinson-White (WPW) syndrome. METHODS AND RESULTS: Exercise testing and transesophageal EPS were performed in 55 outpatient asymptomatic children aged 6 to 19 years old (14 +/- 3) with WPW. Wolff-Parkinson-White persisted during maximal exercise. Isoproterenol was not required in five children younger than 10 years old, because they developed a catecholaminergic sinus tachycardia. Maximal rate conducted through accessory pathway (AP) was higher in children younger than 16 years old than in teenagers (P < 0.05). Atrioventricular re-entrant tachycardia (AVRT) was induced in six children; atrial fibrillation (AF) in 12 children. The induction of tachycardias and the dangerous forms (18%) were not influenced by age. After 5 +/- 1 years, one child, 12 year old with inducible rapid AF, had a sudden cardiac arrest; two children became symptomatic after ablation. CONCLUSIONS: Transesophageal EPS was required to determine the prognosis of asymptomatic WPW in children. The maximal rate conducted in AP was higher in children younger than 16 years old than in teenagers; other data did not differ. AVRT was rare; 71% of children had no inducible arrhythmia and were authorized to resume physical activities.
18Screening young athletes for prevention of sudden cardiac death: Practical recommendations for sports physicians.PubMed
J-C Chatard, I Mujika, J J Goiriena, et al.
Scand J Med Sci Sports. 2016 Apr;26(4):362-74. doi: 10.1111/sms.12502. Epub 2015 Oct 3.
Regular intensive exercise in athletes increases the relative risk of sudden cardiac death (SCD) compared with the relatively sedentary population. Most cases of SCD are due to silent cardiovascular diseases, and pre-participation screening of athletes at risk of SCD is thus of major importance. However, medical guidelines and recommendations differ widely between countries. In Italy, the National Health System recommends pre-participation screening for all competitive athletes including personal and family history, a physical examination, and a resting 12-lead electrocardiogram (ECG). In the United States, the American College of Cardiology and the American Heart Association recommend a pre-participation screening program limited to the use of specific questionnaires and a clinical examination. The value of a 12-lead ECG is debated based on issues surrounding cost-efficiency and feasibility. The aim of this review was to focus on (i) the incidence rate of cardiac diseases in relation to SCD; (ii) the value of conducting a questionnaire and a physical examination; (iii) the value of a 12-lead resting ECG; (iv) the importance of other cardiac evaluations in the prevention of SCD; and (v) the best practice for pre-participation screening.
19Preparticipation screening and prevention of sudden cardiac death in athletes: implications for primary care.PubMed
Emily Morse, Marjorie Funk
J Am Acad Nurse Pract. 2012 Feb;24(2):63-9. doi: 10.1111/j.1745-7599.2011.00694.x. Epub 2012 Jan 30.
PURPOSES: The purposes of this article are to explore the mechanism of sudden cardiac death (SCD) in young athletes and examine how preparticipation screenings help identify precipitating cardiac abnormalities. Electrocardiogram (ECG) testing has been implicated to play an important role in detecting subtle abnormalities that may cause SCD, but the routine implementation of this diagnostic tool remains a debate among experts. DATA SOURCES: This report was compiled by reviewing the scientific literature on SCD in athletes, preparticipation exams, and current screening guidelines using CINAHL, MEDLINE, and PubMed search engines. CONCLUSIONS: Although the American Heart Association guidelines do not include ECG testing for preparticipation screenings, the implementation of routine ECG testing for preparticipation sports physicals is effective in preventing SCD in athletes. IMPLICATIONS FOR PRACTICE: Primary care providers should be aware of current guidelines for screening patients for heart diseases that predispose them to SCD and their legal obligations to be sure these athletes are safe. The implementation of ECG testing will assist in the decision whether to disqualify an athlete from participation as a result of preexisting cardiac conditions, and ultimately preventing the untimely death of a young athlete.
20Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.PubMed
Luis R Lopes, Petros Syrris, Oliver P Guttmann, et al.
Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.
OBJECTIVE: A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene mutations and test the hypothesis that variation in non-sarcomere genes modifies the phenotype. METHODS: Unrelated and consecutive patients were clinically evaluated and prospectively followed in a specialist clinic. High-throughput sequencing was used to analyse 41 genes implicated in inherited cardiac conditions. Variants in SP and non-SP genes were tested for associations with phenotype and survival. RESULTS: 874 patients (49.6±15.4 years, 67.8% men) were studied; likely disease-causing SP gene variants were detected in 383 (43.8%). Patients with SP variants were characterised by younger age and higher prevalence of family history of HCM, family history of sudden cardiac death, asymmetric septal hypertrophy, greater maximum LV wall thickness (all p values<0.0005) and an increased incidence of cardiovascular death (p=0.012). Similar associations were observed for individual SP genes. Patients with ANK2 variants had greater maximum wall thickness (p=0.0005). Associations at a lower level of significance were demonstrated with variation in other non-SP genes. CONCLUSIONS: Patients with HCM caused by rare SP variants differ with respect to age at presentation, family history of the disease, morphology and survival from patients without SP variants. Novel associations for SP genes are reported and, for the first time, we demonstrate possible influence of variation in non-SP genes associated with other forms of cardiomyopathy and arrhythmia syndromes on the clinical phenotype of HCM.
检索问题
年轻人为了防止心源性猝死，需要做哪些检查？排查哪些疾病？
心源性猝死（SCD）是年轻运动员运动期间死亡的主要原因之一，通常与遗传性、结构性或电生理性心脏疾病有关。为了预防年轻人的心源性猝死，需要进行一系列检查来识别潜在的风险疾病。这些检查方法和排查的疾病在全球范围内存在一些差异，但核心目标都是在运动参与前识别高风险个体。
检查项目
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病史询问与体格检查 (History and Physical Examination)
- 个人病史 (Personal History)：询问是否有晕厥、心悸、既往心脏病史等症状。
- 家族病史 (Family History)：了解家族中是否有心源性猝死、肥厚性心肌病、长QT综合征、Brugada综合征等遗传性心脏病史，这对于识别遗传性心律失常综合征至关重要，因为一个患者的发现可能挽救其他无症状家庭成员的生命。
- 体格检查 (Physical Examination)：由医生进行全面的体格检查，以评估是否存在任何心脏异常迹象。
- 在美国，目前主流的指南支持使用病史询问和体格检查进行普遍的运动前评估，如果发现异常则转诊至心脏科。美国心脏协会（AHA）的“14要素运动前心血管筛查”工具也包括了个人和家族病史以及体格检查。
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心电图 (Electrocardiogram, ECG)
- 静息12导联心电图是识别或提示潜在心脏异常的重要工具。
- 欧洲和意大利的运动前筛查指南通常包括静息心电图作为常规检查项目。自1982年意大利实施全国性系统性运动前筛查计划（包括心电图）以来，年轻竞技运动员心源性猝死的发病率显著下降，主要归因于心肌病导致猝死病例的减少。
- 心电图在检测可能导致心源性猝死的细微异常方面具有重要作用。
- 国际专家组于2015年更新了运动员心电图判读的国际共识，旨在区分运动员正常的生理适应与提示潜在病理的异常发现。
- 心电图可以帮助诊断Brugada综合征，该综合征有特征性的心电图模式，包括右胸导联ST段抬高和T波倒置，这些变化可能是间歇性的，并可被发热或钠通道阻滞剂激发。
- 尽管心电图在诊断和筛查中的重要性得到认可，但其在广泛应用方面受到医生专业知识短缺的限制。此外，关于心电图成本效益和可行性的争议仍在持续。
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超声心动图 (Echocardiography)
- 超声心动图是区分生理性“运动员心脏”和肥厚性心肌病（HCM）的首选方法。
- 运动员心脏通常表现为偏心性双心室肥厚，室壁厚度小于15毫米，左心室轻度扩张；而HCM常表现为非对称性左心室肥厚，左心室直径减小。
- 在无法通过超声心动图确诊的情况下，可采用心脏MRI、代谢运动试验、心内膜活检组织学研究和基因检测等方法提供进一步信息。
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电生理学检查 (Electrophysiological Study, EPS)
- 对于无症状的预激综合征（如Wolff-Parkinson-White, WPW综合征）儿童，经食管电生理检查（EPS）对于确定预后是必需的。
- EPS可以评估通过旁路的传导最大速率，并诱发心动过速（如房室折返性心动过速、心房颤动），从而识别有猝死风险的个体。
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植入式心脏复律除颤器 (Implantable Cardioverter Defibrillator, ICD)
- 对于有症状的Brugada综合征患者，植入ICD是目前唯一有效的治疗方法。ICD可以有效预防心源性猝死。
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Holter监测、运动试验和植入式循环记录仪 (Holter Monitors, Exercise Test, and Implantable Loop Recorders)
- 这些非侵入性检查在Brugada综合征的诊断和风险分层中发挥作用，特别是在儿童患者中，以最大程度地减少过度诊断和过度治疗。
- 对于无症状的预激综合征儿童，运动试验可以评估其危险性。
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基因检测 (Genetic Testing)
- 基因检测可以为肥厚性心肌病患者提供基因型-表型关联，并有助于临床决策。
- 尽管Brugada综合征被认为是遗传性心律失常综合征，但大多数病例并非由单一致病基因变异引起。然而，基因检测在年轻Brugada综合征患者中的作用和担忧仍需进一步探讨。
需要排查的疾病
年轻人的心源性猝死主要由潜在的心脏疾病引起，其中许多是遗传性的。以下是需要重点排查的疾病：
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心肌病 (Cardiomyopathies)
- 肥厚性心肌病 (Hypertrophic Cardiomyopathy, HCM)：这是年轻运动员心源性猝死最常见的遗传性心脏疾病，发生率约为0.2%。HCM的特征是左心室肥厚，可与“运动员心脏”的生理性肥厚相混淆，需要通过超声心动图等进一步检查区分。携带肌节蛋白（sarcomere protein, SP）基因变异的HCM患者通常表现出更年轻的发病年龄、更强的家族史、更严重的形态学改变和更高的心血管死亡率。
- 致心律失常性右心室心肌病/发育不良 (Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia, ARVC/D)：是一种遗传性疾病，其中正常心肌被脂肪和纤维组织取代，易引发恶性心律失常导致猝死。
- 扩张型心肌病 (Dilated Cardiomyopathy, DCM)：虽然在年轻人中相对少见，但DCM也会导致心力衰竭和心律失常，增加SCD风险。
- 心肌病导致的猝死在意大利的筛查项目中显著减少，表明早期识别和干预的重要性。
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离子通道病 (Ion Channelopathies)
- 这些是影响心脏电活动并导致致命性心律失常的遗传性疾病，但心脏结构可能正常。
- Brugada综合征 (Brugada Syndrome, BrS)：这是一种与心源性猝死高风险相关的临床实体，主要发生在年轻男性，通常在睡眠中发作。其特征性心电图模式（右胸导联ST段抬高）和晕厥、心悸、猝死等症状是诊断的关键。儿童Brugada综合征的诊断和风险分层需要系统化和个体化的评估，以避免过度诊断和过度治疗。
- 长QT综合征 (Long QT Syndrome, LQTS)：是一种遗传性疾病，影响心脏复极过程，导致QT间期延长，易发生尖端扭转型室速和猝死。
- 短QT综合征 (Short QT Syndrome, SQTS)：与LQTS相反，QT间期缩短，也易发生致命性心律失常。
- 儿茶酚胺敏感性多形性室性心动过速 (Catecholaminergic Polymorphic Ventricular Tachycardia, CPVT)：这是一种在应激或运动时诱发室性心律失常的遗传性疾病。
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先天性冠状动脉异常 (Congenital Coronary Anomalies)
- 在年轻运动员中，先天性冠状动脉异常是导致心源性猝死的主要原因之一。这些异常可能导致运动时心肌缺血，引发致命性心律失常。
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预激综合征 (Pre-excitation Syndrome, Wolff-Parkinson-White Syndrome, WPW)
- WPW综合征是一种先天性疾病，存在心房与心室之间的异常电传导通路（旁路），导致心室预激。虽然大多数WPW患者无症状，但少数患者可能发生快速心房颤动，通过旁路传导至心室，引发室颤和猝死，尤其是在儿童和青少年中。
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心肌炎 (Myocarditis)
- 心肌炎是心肌的炎症，可能由病毒感染引起。在某些情况下，它可能导致心律失常和心源性猝死，尤其是在运动过程中。
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心脏结节病 (Cardiac Sarcoidosis)
- 这是一种罕见的系统性疾病，可影响心脏，导致传导系统障碍或心肌病，进而引发心源性猝死。
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心脏震荡 (Commotio Cordis)
- 这并非一种基础心脏疾病，而是由于胸部非穿透性撞击（如棒球或曲棍球击中胸部）在心动周期的特定时间窗（上升支）内发生，导致心室颤动和猝死。虽然无法通过筛查预测，但在某些语境下作为年轻运动员猝死原因被提及。
其他风险因素与注意事项
- 能量饮料消费 (Energy Beverage Consumption)：能量饮料的消费日益增多，尤其是在运动时，已被证明会对年轻健康成年人的动脉内皮功能产生负面影响，可能增加心血管风险。
- 物质滥用 (Substance Abuse)：在发达国家，年轻人（18-50岁）中阿片类药物、可卡因、电子烟和合成代谢类固醇等物质滥用率上升，这可能导致心血管疾病发病率的增加，包括心源性猝死。
- 教育与依从性 (Education and Compliance)：对于患有先天性心脏病（CHD）的青少年和年轻人，过渡期干预项目对健康知识有显著影响。结构化的CHD教育项目可以改善理解并预防潜在的未来并发症。欧洲过敏和临床免疫学学会（EAACI）的指南也强调确保青少年和年轻人了解并遵守其处方药物的重要性。
总之，为了预防年轻人的心源性猝死，应进行综合性的运动前评估，包括详细的个人和家族病史询问、体格检查、静息心电图。对于有异常发现的个体，需要进一步进行超声心动图、电生理学检查、心脏MRI甚至基因检测等，以准确诊断并管理肥厚性心肌病、离子通道病、先天性冠状动脉异常、预激综合征等高风险疾病。这种多层次的筛查方法有助于识别潜在的心脏疾病，从而指导适当的干预措施，以降低年轻人在运动中发生心源性猝死的风险。
References
1International criteria for electrocardiographic interpretation in athletes: Consensus statement.PubMed
Jonathan A Drezner, Sanjay Sharma, Aaron Baggish, et al.
Br J Sports Med. 2017 May;51(9):704-731. doi: 10.1136/bjsports-2016-097331. Epub 2017 Mar 3.
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete. A critical need exists for physician education in modern ECG interpretation that distinguishes normal physiological adaptations in athletes from distinctly abnormal findings suggestive of underlying pathology. Since the original 2010 European Society of Cardiology recommendations for ECG interpretation in athletes, ECG standards have evolved quickly, advanced by a growing body of scientific data and investigations that both examine proposed criteria sets and establish new evidence to guide refinements. On 26-27 February 2015, an international group of experts in sports cardiology, inherited cardiac disease, and sports medicine convened in Seattle, Washington (USA), to update contemporary standards for ECG interpretation in athletes. The objective of the meeting was to define and revise ECG interpretation standards based on new and emerging research and to develop a clear guide to the proper evaluation of ECG abnormalities in athletes. This statement represents an international consensus for ECG interpretation in athletes and provides expert opinion-based recommendations linking specific ECG abnormalities and the secondary evaluation for conditions associated with SCD.
2Sudden cardiac death in the young: An update for NPs.PubMed
Julianne Doucette, Ruth Rosenblum
Nurse Pract. 2023 Mar 1;48(3):21-28. doi: 10.1097/01.NPR.0000000000000013.
NPs can identify risk for sudden cardiac death in children during physical exams to prevent tragedy. The updated American Academy of Pediatrics 2021 policy statement on this issue provides guidance on using a combination of elements to determine and manage risk, including the organization's own 4-question screening tool, the American Heart Association 14-Element Preparticipation Cardiovascular Screening of Young Competitive Athletes, personal history, family history, physical exam, ECG, and cardiology referral as indicated.
3Perceptions of adolescents and young adults with allergy and/or asthma and their parents on EAACI guideline recommendations about transitional care: A European survey.PubMed
Ekaterina Khaleva, Rebecca Knibb, Audrey DunnGalvin, et al.
Allergy. 2022 Apr;77(4):1094-1104. doi: 10.1111/all.15109. Epub 2021 Nov 1.
BACKGROUND: The European Academy of Allergy and Clinical Immunology has developed a guideline to provide evidence-based recommendations for healthcare professionals to support the transitional care of adolescents and young adults (AYA) with allergy and/or asthma. The goal of this work was to ensure that the draft recommendations are also important for patients. METHODS: We surveyed patients aged 11-25 years with allergy and/or asthma and their parents across Europe between 17 February and 16 March 2020. The multilingual survey was distributed through national allergy and asthma patient organizations in Europe as well as through social media. RESULTS: A total of 1210 responses from 24 European countries were collected. There were 415 (34.3%) AYA and 795 (65.7%) parents. The majority of AYA (72.3%) and parents (81.9%) were female. Patients had a history of asthma (61.1%), allergic rhinoconjunctivitis (54.1%), food allergy (53.8%), atopic eczema (42.6%) and anaphylaxis (28.8%). All recommendations achieved the median score of either 'important' or 'very important'. The least supported recommendations were the use of joint clinics with both paediatric and adult physicians attending and the use of web-based or mobile technologies for communication with the AYA. The most supported recommendation was checking that the AYA is knowledgeable and compliant with their prescribed medication. Qualitative analysis revealed conditional approval for some recommendations. CONCLUSIONS: There was agreement from patients and parents on the importance of the draft recommendations on transitional care for AYA with allergy and/or asthma and their parents. The recommendations now need to be implemented into clinical practice across Europe.
4Brugada syndrome.PubMed
Jessica Jellins, Mitchell Milanovic, David-Joel Taitz, et al.
Hong Kong Med J. 2013 Apr;19(2):159-67.
As a clinical entity the Brugada syndrome has existed since 1992 and has been associated with a high risk of sudden cardiac death predominately in younger males. Patients can present with symptoms (ie syncope, palpitations, aborted sudden cardiac death) and asymptomatically. Its three characteristic electrocardiographic patterns can occur both spontaneously or after provocation with sodium channel-blocking agents. Risk stratification and the need for treatment depend on the patient's symptoms, electrocardiography, family history, and electrophysiological inducibility to discern if treatment by implantable cardioverter defibrillator, the only effective treatment to date, is appropriate. This review focuses on Brugada syndrome and various aspects of the disease including proposed mechanisms, epidemiology, clinical presentations, genetics, diagnosis, risk stratification, and treatment options.
5Sudden Cardiac Death in Young Athletes: JACC State-of-the-Art Review.PubMed
Gherardo Finocchiaro, Joseph Westaby, Mary N Sheppard, et al.
J Am Coll Cardiol. 2024 Jan 16;83(2):350-370. doi: 10.1016/j.jacc.2023.10.032.
Athletes epitomize the healthiest segment of society. Despite this premise, sudden cardiac death may occur in apparently healthy athletes, attracting significant attention not only in the medical community but also in laypersons and media. The incidence of sudden cardiac death is variably reported, and epidemiological burden differs among cohorts. Athletes appear to be at risk of developing fatal arrhythmias when harboring a quiescent cardiac disorder. Primary cardiomyopathies, ion channelopathies, and coronary artery anomalies are prevalent causes in young individuals. Cardiac assessment of athletes can be challenging because these individuals exhibit a plethora of electrical, structural, and functional physiological changes that overlap with cardiac pathology. A diagnosis of cardiac disease in a young athlete is not necessarily an indication to terminate competition and sports participation. International guidelines, traditionally focused on disqualification of individuals with cardiac disease, have recently adopted a more liberal attitude, based on a careful assessment of the risk and on a shared-decision making approach.
6Educational needs of adolescents with congenital heart disease: Impact of a transition intervention programme.PubMed
Magalie Ladouceur, Johanna Calderon, Maladon Traore, et al.
Arch Cardiovasc Dis. 2017 May;110(5):317-324. doi: 10.1016/j.acvd.2017.02.001. Epub 2017 Mar 22.
BACKGROUND: Adolescents and young adults with congenital heart disease (CHD) have complex health needs and require lifelong follow-up. Interventions to facilitate the paediatric-to-adult healthcare transition are recommended, but outcomes remain largely under-investigated. AIMS: To identify the educational needs and the impact of a transition intervention on knowledge and self-management skills in adolescents and young adults with CHD. METHODS: From September 2014 to May 2015, 115 adolescents and young adults with CHD (mean age 17±2 years; 47 girls) were consecutively enrolled. Among these, 22 had participated in a structured educational programme in the previous 11±4 months (education group) and 93 had not (comparison group). Knowledge about their health status was assessed using a targeted CHD questionnaire. RESULTS: The mean overall health knowledge score (maximum of 20) in the education group was significantly higher than in the comparison group (11.7±3.5 vs. 8.6±3.2; P<0.001). We observed significant gaps in knowledge in the comparison group: e.g. 61.3% vs. 90.0% knew their condition name (P=0.01), 21.5% vs. 63.6% were aware of recommended follow-up (P=0.004), and 12.8% vs. 75.0% of girls knew to check their heart condition before pregnancy (P<0.01). In multivariable analysis, after adjustment for age, structured CHD education and higher academic attainment were significant determinants of health-related knowledge (P<0.01). CONCLUSION: Education during adolescent-to-adult transition has a significant impact on health knowledge. Structured CHD educational programmes could improve understanding and prevent potential future complications.
7Brugada syndrome - minimizing overdiagnosis and over treatment in children.PubMed
M Cecilia Gonzalez Corcia
Curr Opin Cardiol. 2022 Jan 1;37(1):80-85. doi: 10.1097/HCO.0000000000000941.
PURPOSE OF REVIEW: Is to summarise the new contributions toward the understanding of the broad spectrum of manifestations of Brugada syndrome (BrS) during the first years of life. The review encompasses the screening of the asymptomatic patient referred due to family history in one extreme of the spectrum, and also the rare child with early clinical expression of the disease on the opposite side. RECENT FINDINGS: Involve specific features of pediatric BrS including the risk related to a positive family history of sudden cardiac death, the risk of presenting with syncope and the multiple diagnostic challenges of the disease. We included some of the most controversial aspects of the diagnosis and risk stratification, encompassing noninvasive studies (Holter monitors, exercise test, implantable loop recorders, and provocative tests), as well as invasive stratification during the first years of life. Finally, the role and concerns of genetic testing in this age group are commented upon. SUMMARY: The main key to minimize overdiagnosis and overtreatment in the young population with a personal and/or family diagnosis of BrS is to perform a systematic but also individualized assessment. Appropriate diagnostic guidelines need to be created and age-specific risk stratification algorithms built for the young patient both with suspected and confirmed BrS.
8Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program.PubMed
Domenico Corrado, Cristina Basso, Andrea Pavei, et al.
JAMA. 2006 Oct 4;296(13):1593-601. doi: 10.1001/jama.296.13.1593.
CONTEXT: A nationwide systematic preparticipation athletic screening was introduced in Italy in 1982. The impact of such a program on prevention of sudden cardiovascular death in the athlete remains to be determined. OBJECTIVE: To analyze trends in incidence rates and cardiovascular causes of sudden death in young competitive athletes in relation to preparticipation screening. DESIGN, SETTING, AND PARTICIPANTS: A population-based study of trends in sudden cardiovascular death in athletic and nonathletic populations aged 12 to 35 years in the Veneto region of Italy between 1979 and 2004. A parallel study examined trends in cardiovascular causes of disqualification from competitive sports in 42,386 athletes undergoing preparticipation screening at the Center for Sports Medicine in Padua (22,312 in the early screening period [1982-1992] and 20,074 in the late screening period [1993-2004]). MAIN OUTCOME MEASURES: Incidence trends of total cardiovascular and cause-specific sudden death in screened athletes and unscreened nonathletes of the same age range over a 26-year period. RESULTS: During the study period, 55 sudden cardiovascular deaths occurred in screened athletes (1.9 deaths/100,000 person-years) and 265 sudden deaths in unscreened nonathletes (0.79 deaths/100,000 person-years). The annual incidence of sudden cardiovascular death in athletes decreased by 89% (from 3.6/100,000 person-years in 1979-1980 to 0.4/100,000 person-years in 2003-2004; P for trend < .001), whereas the incidence of sudden death among the unscreened nonathletic population did not change significantly. The mortality decline started after mandatory screening was implemented and persisted to the late screening period. Compared with the prescreening period (1979-1981), the relative risk of sudden cardiovascular death in athletes was 0.56 in the early screening period (95% CI, 0.29-1.15; P = .04) and 0.21 in the late screening period (95% CI, 0.09-0.48; P = .001). Most of the reduced mortality was due to fewer cases of sudden death from cardiomyopathies (from 1.50/100,000 person-years in the prescreening period to 0.15/100,000 person-years in the late screening period; P for trend = .002). During the study period, 879 athletes (2.0%) were disqualified from competition due to cardiovascular causes at the Center for Sports Medicine: 455 (2.0%) in the early screening period and 424 (2.1%) in the late screening period. The proportion of athletes who were disqualified for cardiomyopathies increased from 20 (4.4%) of 455 in the early screening period to 40 (9.4%) of 424 in the late screening period (P = .005). CONCLUSIONS: The incidence of sudden cardiovascular death in young competitive athletes has substantially declined in the Veneto region of Italy since the introduction of a nationwide systematic screening. Mortality reduction was predominantly due to a lower incidence of sudden death from cardiomyopathies that paralleled the increasing identification of athletes with cardiomyopathies at preparticipation screening.
9[Sudden cardiac death in athletes: is it always not preventable?].PubMed
Federica Vernuccio, Giuseppe Grutta, Giovanni Fazio
Recenti Prog Med. 2014 Nov;105(11):410-4. doi: 10.1701/1680.18400.
Sudden cardiac death (SCD) in athletes is a rare but tragic event particularly considering that in some cases it is preventable. In young athletes with cardiovascular disease the risk of SCD is 2,5 times higher than in non-athletes. In young athletes (<35 years old), the most common causes of SCD are related to pre-existing cardiovascular disorders including hypertrophic cardiomyopathy, congenital coronary anomalies, arrhythmogenic right ventricular dysplasia, commotio cordis, some channelopathies and cardiac sarcoidosis. Actually there are two approches to pre-participation athletic screening: the American one based on anamnesis and physical examination and the European one based on anamnesis, physical examination and ECG at rest. However, some disorders responsible for SCD can't be suspected through these exams and it could be useful to implement preparticipation athletic screening.
10Epidemiology of cardiovascular disease in young individuals.PubMed
Charlotte Andersson, Ramachandran S Vasan
Nat Rev Cardiol. 2018 Apr;15(4):230-240. doi: 10.1038/nrcardio.2017.154. Epub 2017 Oct 12.
In the past 2 decades, a high prevalence of risk factors for cardiovascular disease, such as obesity, physical inactivity, and poor diet, has been observed among young individuals living in developed countries. The rate of substance abuse (opioids, cocaine, electronic cigarettes, and anabolic steroids) is also increasing among young adults, whereas cigarette smoking might be declining. Among younger individuals (aged 18-50 years), the incidence of cardiovascular diseases over the same time period has either been steady or has increased, in contrast to the trend towards a lower incidence of cardiovascular disease in adults aged >50 years. Current observations might, therefore, be used to forecast a potential epidemic of cardiovascular disease in the near future as the younger segment of the population ages. In this Review, we discuss the burden of risk factors for ischaemic heart disease, heart failure, atrial fibrillation, and sudden cardiac death among young adults aged 18-45 years. Furthermore, we discuss the prevalence, incidence, and temporal trends of various cardiovascular diseases among this young segment of the population.
11Consumption of energy beverage is associated with attenuation of arterial endothelial flow-mediated dilatation.PubMed
John P Higgins, Benjamin Yang, Nikki E Herrin, et al.
World J Cardiol. 2017 Feb 26;9(2):162-166. doi: 10.4330/wjc.v9.i2.162.
AIM: To investigate whether consumption of an energy drink will acutely impair endothelial function in young healthy adults. METHODS: Energy drinks are being consumed more and more worldwide, and have been associated with some deaths in adolescents and young adults, especially when consumed while exercising. After fasting and not smoking for at least 8 h prior, eleven medical students (9 males) received an electrocardiogram, blood pressure and pulse check, and underwent baseline testing (BL) of endothelial function using the technique of endothelium-dependent flow mediated dilatation (FMD) with high-resolution ultrasound (according to recommended guidelines of the University of Wisconsin Atherosclerosis Imaging Research Program Core Laboratory). The subjects then drank an energy beverage (EB), a 24-oz can of Monster Energy, and the above was repeated at 90 min after consumption. The relative FMD (%) was calculated as the ratio between the average post-cuff release and the baseline diameter. Each image was checked for quality control, and each artery diameter was measured from the media to media points by two experts, 3 measurements at the QRS complex, repeated on 3 separate beats, and then all were averaged. RESULTS: Subjects characteristics averages (given with standard deviations) include: Age 24.5 ± 1.5 years, sex 9 male and 2 female, weight 71.0 ± 9.1 kg, height 176.4 ± 6.0 cm, BMI 22.8 ± 2.7 kg/m. The hemodynamics were as follows, BL EB group respectively (mean ± SD): Heart rate 65.2 ± 11.3 68.2 ± 11.8 beats per minute, systolic blood pressure 114.0 ± 10.4 mmHg 114.1 ± 10.4 mmHg, diastolic blood pressure 68.8 ± 9.3 mmHg 70.6 ± 7.1 mmHg; all were not significantly different. However after drinking the EB, a significantly attenuated peak FMD response was measured (mean ± SD): BL group 5.9% ± 4.6% EB group 1.9% ± 2.1%; = 0.03). Given the increased consumption of energy beverages associated with exercise in young adults, more research is needed. CONCLUSION: Energy beverage consumption has a negative impact on arterial endothelial function in young healthy adults.
12Can Sudden Cardiac Death Risk in the Young be Identified in the Emergency Department?PubMed
Kory S London, Christina Hartwell, Sergi Cesar, et al.
J Emerg Nurs. 2020 Jan;46(1):105-110. doi: 10.1016/j.jen.2019.09.009. Epub 2019 Nov 14.
Sudden cardiac death in the young is devastating for the family and the community. Although it has diverse etiologies, many are inherited. Discovering the disease in 1 patient offers the chance to save otherwise asymptomatic family members. Although some diseases can be discovered during autopsy, others require electrocardiograms for diagnosis, making it difficult to estimate the prevalence of disease and cause of death. Careful assessment of the history of present illness, family history, and electrocardiogram can guide clinical teams toward sometimes rare and difficult diagnoses. The purpose of this review article is to summarize the bench to bedside diagnosis of inherited dysrhythmia syndromes, which if missed on first presentation to the emergency department, have significant implications for the patient and the entire family.
13The cardiac preparticipation sports evaluation.PubMed
Denis J Donovan, Joanna E Nelson, Michael A Monaco
Curr Opin Pediatr. 2023 Oct 1;35(5):546-552. doi: 10.1097/MOP.0000000000001284. Epub 2023 Aug 8.
PURPOSE OF REVIEW: Sudden cardiac death (SCD) is the leading cause of death in young athletes during sports participation. Preparticipation cardiovascular screening aims to identify those at an increased risk of SCD. This review aims to provide a background of SCD in young athletes, to discuss the various screening recommendations of major medical societies, and to review recent evidence and current practice. RECENT FINDINGS: Numerous studies have evaluated various preparticipation screening practices, particularly regarding the inclusion of ECG as part of an initial evaluation to identify conditions with an increased risk of SCD. Some analyses have shown ECG inclusion to provide increased screening sensitivity and specificity, though others have shown no benefit when compared with evaluation with history and physical examination alone. Furthermore, in countries for which more extensive screening protocols have been employed, postimplementation statistics have not shown a significant decrease in SCD. SUMMARY: SCD in young athletes primarily results from underlying cardiac disease. Various preparticipation screening recommendations exist globally, with the common goal of decreasing the rates of SCD by identifying youth at risk during sports participation. Current guidelines in the United States support universal preparticipation evaluation using history and physical examination, with cardiology referral if abnormalities are identified.
14Brugada Syndrome.PubMed
Andrew D Krahn, Elijah R Behr, Robert Hamilton, et al.
JACC Clin Electrophysiol. 2022 Mar;8(3):386-405. doi: 10.1016/j.jacep.2021.12.001.
Brugada syndrome (BrS) is an "inherited" condition characterized by predisposition to syncope and cardiac arrest, predominantly during sleep. The prevalence is ∼1:2,000, and is more commonly diagnosed in young to middle-aged males, although patient sex does not appear to impact prognosis. Despite the perception of BrS being an inherited arrhythmia syndrome, most cases are not associated with a single causative gene variant. Electrocardiogram (ECG) findings support variable extent of depolarization and repolarization changes, with coved ST-segment elevation ≥2 mm and a negative T-wave in the right precordial leads. These ECG changes are often intermittent, and may be provoked by fever or sodium channel blocker challenge. Growing evidence from cardiac imaging, epicardial ablation, and pathology studies suggests the presence of an epicardial arrhythmic substrate within the right ventricular outflow tract. Risk stratification aims to identify those who are at increased risk of sudden cardiac death, with well-established factors being the presence of spontaneous ECG changes and a history of cardiac arrest or cardiogenic syncope. Current management involves conservative measures in asymptomatic patients, including fever management and drug avoidance. Symptomatic patients typically undergo implantable cardioverter defibrillator insertion, with quinidine and epicardial ablation used for patients with recurrent arrhythmia. This review summarizes our current understanding of BrS and provides clinicians with a practical approach to diagnosis and management.
15Athlete's heart or hypertrophic cardiomyopathy?PubMed
Jörg Lauschke, Bernhard Maisch
Clin Res Cardiol. 2009 Feb;98(2):80-8. doi: 10.1007/s00392-008-0721-2. Epub 2008 Oct 13.
Intensive endurance training is able to cause a distinct pattern of functional and structural changes of the cardiovascular system. In an unknown proportion of athletes a so called "athlete's heart" develops. There is an overlap between this type of physiologic cardiac hypertrophy and mild forms of hypertrophic cardiomyopathy (HCM), the most common genetic disorder of the cardiovascular system with a prevalence of 0.2%. HCM is caused by mutations in 14 genes coding for sarcomere proteins. In the literature up to 50% of cases of sudden cardiac death (SCD) in younger sportsmen were connected to hypertrophic cardiomyopathy. It is therefore the most common cause of SCD in highly trained young athletes. Because of this data a great interest in distinguishing these two diagnoses exists. Apart from clinical examination and some non-specific ECG-changes, Echocardiography is the method of choice. The athlete's heart shows an eccentric biventricular hypertrophy with wall thicknesses under 15 mm and a moderately dilated left ventricle (LVEDD up to 58 mm). HCM is commonly characterized by asymmetric left ventricular hypertrophy with a reduced LV-diameter. In up to 70% of cases left ventricular outflow tract obstruction is evident during stress echocardiography. Systolic function is normal in highly trained athletes and the majority of HCM patients as well. There are important differences regarding diastolic filling patterns. Physiological hypertrophy is consistent with a normal diastolic function with even increased early diastolic filling. In case of HCM diastolic dysfunction (mostly relaxation disturbances) occurs in the majority of patients and is therefore inconsistent with an athlete's heart. If the diagnosis could not be stated using echocardiography, methods like cardiac-MRI, metabolic exercise testing, histological studies of endomyocardial biopsies and genetic testing can provide further information. A correct diagnosis may on the one hand prevent some athletes from sudden cardiac death. On the other hand sportsmen with an athlete's heart are reassured and able to continue as competitors. New insights into electrophysiological changes during physiological hypertrophy could probably change this view.
16Interest of non-invasive and semi-invasive testings in asymptomatic children with pre-excitation syndrome.PubMed
B Brembilla-Perrot, F Chometon, L Groben, et al.
Europace. 2007 Sep;9(9):837-43. doi: 10.1093/europace/eum153. Epub 2007 Aug 1.
AIMS: To determine the feasibility and the results of exercise testing (ET) and electrophysiological study (EPS) in outpatient asymptomatic children with a Wolff-Parkinson-White (WPW) syndrome. METHODS AND RESULTS: Exercise testing and transesophageal EPS were performed in 55 outpatient asymptomatic children aged 6 to 19 years old (14 +/- 3) with WPW. Wolff-Parkinson-White persisted during maximal exercise. Isoproterenol was not required in five children younger than 10 years old, because they developed a catecholaminergic sinus tachycardia. Maximal rate conducted through accessory pathway (AP) was higher in children younger than 16 years old than in teenagers (P < 0.05). Atrioventricular re-entrant tachycardia (AVRT) was induced in six children; atrial fibrillation (AF) in 12 children. The induction of tachycardias and the dangerous forms (18%) were not influenced by age. After 5 +/- 1 years, one child, 12 year old with inducible rapid AF, had a sudden cardiac arrest; two children became symptomatic after ablation. CONCLUSIONS: Transesophageal EPS was required to determine the prognosis of asymptomatic WPW in children. The maximal rate conducted in AP was higher in children younger than 16 years old than in teenagers; other data did not differ. AVRT was rare; 71% of children had no inducible arrhythmia and were authorized to resume physical activities.
17Screening young athletes for prevention of sudden cardiac death: Practical recommendations for sports physicians.PubMed
J-C Chatard, I Mujika, J J Goiriena, et al.
Scand J Med Sci Sports. 2016 Apr;26(4):362-74. doi: 10.1111/sms.12502. Epub 2015 Oct 3.
Regular intensive exercise in athletes increases the relative risk of sudden cardiac death (SCD) compared with the relatively sedentary population. Most cases of SCD are due to silent cardiovascular diseases, and pre-participation screening of athletes at risk of SCD is thus of major importance. However, medical guidelines and recommendations differ widely between countries. In Italy, the National Health System recommends pre-participation screening for all competitive athletes including personal and family history, a physical examination, and a resting 12-lead electrocardiogram (ECG). In the United States, the American College of Cardiology and the American Heart Association recommend a pre-participation screening program limited to the use of specific questionnaires and a clinical examination. The value of a 12-lead ECG is debated based on issues surrounding cost-efficiency and feasibility. The aim of this review was to focus on (i) the incidence rate of cardiac diseases in relation to SCD; (ii) the value of conducting a questionnaire and a physical examination; (iii) the value of a 12-lead resting ECG; (iv) the importance of other cardiac evaluations in the prevention of SCD; and (v) the best practice for pre-participation screening.
18Preparticipation screening and prevention of sudden cardiac death in athletes: implications for primary care.PubMed
Emily Morse, Marjorie Funk
J Am Acad Nurse Pract. 2012 Feb;24(2):63-9. doi: 10.1111/j.1745-7599.2011.00694.x. Epub 2012 Jan 30.
PURPOSES: The purposes of this article are to explore the mechanism of sudden cardiac death (SCD) in young athletes and examine how preparticipation screenings help identify precipitating cardiac abnormalities. Electrocardiogram (ECG) testing has been implicated to play an important role in detecting subtle abnormalities that may cause SCD, but the routine implementation of this diagnostic tool remains a debate among experts. DATA SOURCES: This report was compiled by reviewing the scientific literature on SCD in athletes, preparticipation exams, and current screening guidelines using CINAHL, MEDLINE, and PubMed search engines. CONCLUSIONS: Although the American Heart Association guidelines do not include ECG testing for preparticipation screenings, the implementation of routine ECG testing for preparticipation sports physicals is effective in preventing SCD in athletes. IMPLICATIONS FOR PRACTICE: Primary care providers should be aware of current guidelines for screening patients for heart diseases that predispose them to SCD and their legal obligations to be sure these athletes are safe. The implementation of ECG testing will assist in the decision whether to disqualify an athlete from participation as a result of preexisting cardiac conditions, and ultimately preventing the untimely death of a young athlete.
19Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.PubMed
Luis R Lopes, Petros Syrris, Oliver P Guttmann, et al.
Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.
OBJECTIVE: A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene mutations and test the hypothesis that variation in non-sarcomere genes modifies the phenotype. METHODS: Unrelated and consecutive patients were clinically evaluated and prospectively followed in a specialist clinic. High-throughput sequencing was used to analyse 41 genes implicated in inherited cardiac conditions. Variants in SP and non-SP genes were tested for associations with phenotype and survival. RESULTS: 874 patients (49.6±15.4 years, 67.8% men) were studied; likely disease-causing SP gene variants were detected in 383 (43.8%). Patients with SP variants were characterised by younger age and higher prevalence of family history of HCM, family history of sudden cardiac death, asymmetric septal hypertrophy, greater maximum LV wall thickness (all p values<0.0005) and an increased incidence of cardiovascular death (p=0.012). Similar associations were observed for individual SP genes. Patients with ANK2 variants had greater maximum wall thickness (p=0.0005). Associations at a lower level of significance were demonstrated with variation in other non-SP genes. CONCLUSIONS: Patients with HCM caused by rare SP variants differ with respect to age at presentation, family history of the disease, morphology and survival from patients without SP variants. Novel associations for SP genes are reported and, for the first time, we demonstrate possible influence of variation in non-SP genes associated with other forms of cardiomyopathy and arrhythmia syndromes on the clinical phenotype of HCM.