Di Lenarda Francesca, Balestrucci Angela, Terzi Riccardo, Lopes Pedro, Ciliberti Giuseppe, Marchetti Davide, Schillaci Matteo, Doldi Marco, Melotti Eleonora, Ratti Angelo, Provera Andrea, Paolisso Pasquale, Andreini Daniele, Conte Edoardo
Department of Medical and Surgical Sciences, Faculty of Medicine and Surgery, School of Cardiovascular Diseases, University of Milan, 20126 Milan, Italy.
Department of Cardiology, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Carnaxide, 2799-134 Lisbon, Portugal.
J Clin Med. 2024 Sep 30;13(19):5833. doi: 10.3390/jcm13195833.
Family history for CAD (coronary artery disease) is an established cardiovascular (CV) risk factor and it is progressively acquiring importance in patients' CV risk stratification. Numerous studies have demonstrated that individuals with a first-degree relative affected by CAD have a significantly higher risk of developing the condition themselves; in particular, when CAD occurs at an early age in relatives. Indeed, recently published CCS (chronic coronary syndrome) ESC (European Society of Cardiology) guidelines include family history (FH) as a risk factor to consider when calculating pre-test risk for CAD. ESC guidelines on preventive cardiology (2021) only suggested CV risk assessment in the presence of a positive FH for CV disease, not considering it in the actual risk scores. Evidence suggests that positive anamnesis for relatives affected by CAD correlates with ACS (acute coronary syndrome) and CAD, with slight differences in relative risk as far as the degree of kinship is concerned. Genetic factors contribute to this correlation by influencing key processes that affect heart health, such as cholesterol metabolism, blood pressure regulation, and inflammatory responses. New technologies in the genetics field are increasing the availability of genome sequencing, and new polymorphism panels are being tested as predictive for CAD, objectifying familiarity. Advances in imaging techniques allow the assessment of coronary atherosclerosis and its composition, and these are acquiring strength in evidence and recommendations in ESC guidelines as a way to define coronary disease in low and low-to-intermediate risk patients and to guide medical therapy and interventional procedures. Use of these emerging tools to guide screening is likely to be extended, beyond high CV risk patients, to individuals with FH for early CAD and/or specific genetic profiles, as recent evidence in the literature is suggesting.
冠心病(CAD)家族史是一种既定的心血管(CV)危险因素,在患者的心血管风险分层中日益重要。大量研究表明,有一级亲属患CAD的个体自身患该病的风险显著更高;特别是当亲属在年轻时患CAD时。事实上,最近发布的欧洲心脏病学会(ESC)慢性冠状动脉综合征(CCS)指南将家族史(FH)作为计算CAD预测试风险时需考虑的危险因素。ESC预防心脏病学指南(2021年)仅建议在有心血管疾病阳性家族史时进行心血管风险评估,未将其纳入实际风险评分。有证据表明,亲属患CAD的阳性既往史与急性冠状动脉综合征(ACS)和CAD相关,就亲属关系程度而言,相对风险略有差异。遗传因素通过影响影响心脏健康的关键过程,如胆固醇代谢、血压调节和炎症反应,促成了这种相关性。遗传学领域的新技术增加了基因组测序的可及性,新的多态性检测板正在作为CAD的预测指标进行测试,从而客观化家族关系。成像技术的进步使得能够评估冠状动脉粥样硬化及其成分,并且这些技术在ESC指南中的证据和建议中越来越有力度,可作为在低风险和低至中风险患者中定义冠状动脉疾病以及指导药物治疗和介入程序的一种方法。正如文献中的最新证据所表明的,使用这些新兴工具来指导筛查可能会从高心血管风险患者扩展到有早发性CAD家族史和/或特定基因谱的个体。