Shehzad Mustafa, Shehzad Dawood, Ahmad Muhammad, Huma Sundus, Minhas Shaheer, Wassey Abdul
Internal Medicine, Hackensack University Medical Center, Hackensack, USA.
Internal Medicine, University of South Dakota, Sioux Falls, USA.
Eur J Case Rep Intern Med. 2024 Dec 4;11(12):005029. doi: 10.12890/2024_005029. eCollection 2024.
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.
A male in his mid-20s with class 3 obesity presented to the emergency department with a week-long history of worsening chest pain, orthopnoea and fatigue. His family history was significant for sudden cardiac death affecting both his mother and brother, with his father having died from complications of Wolff-Parkinson-White syndrome. Cardiovascular examination revealed an S3 heart sound and elevated brain natriuretic peptide levels at 875 pg/ml, with undetectable troponins; potassium level on admission was 3.6 mEq/l. An electrocardiogram showed normal sinus rhythm, first-degree heart block, left atrial enlargement, left bundle branch block and a prolonged QTc of 486 ms. A transthoracic echocardiogram demonstrated a 15-20% reduction in ejection fraction with global left ventricular hypokinesis and left atrial enlargement. Ultimately, he was diagnosed with non-ischaemic dilated cardiomyopathy and referred for genetic testing, which revealed a variant. Shortly after discharge, he experienced a 55-second run of ventricular tachycardia, necessitating the placement of a single-chamber ICD. Currently, the patient remains on guideline-directed medical therapy and is listed for a heart transplant.
Dilated cardiomyopathy, although a rare manifestation in ATS, can profoundly increase the risk of fatal arrythmias, necessitating the need for a low threshold of suspicion, to ensure timely diagnosis and management.
Andersen-Tawil syndrome (ATS) can present with heart failure with reduced ejection fraction, even without the typical triad of periodic paralysis, dysmorphic features and arrhythmias. Early genetic testing is essential for confirming ATS, especially in atypical cases with unexplained heart failure or arrhythmias.ATS has incomplete penetrance so it may present without the typical features, making diagnosis challenging and requiring a high suspicion in cases with unexplained arrhythmias or family history of sudden cardiac death.
安徒生-陶威尔综合征（ATS）是一种由该基因变异引起的罕见常染色体显性疾病。它与周期性麻痹、畸形特征和心律失常有关。该综合征表现为不完全外显率，导致临床表现范围广泛，诊断具有挑战性。
一名25岁左右的男性，患有3级肥胖，因胸痛加重、端坐呼吸和疲劳长达一周而就诊于急诊科。他的家族史中有其母亲和哥哥均因心源性猝死去世，父亲死于预激综合征并发症。心血管检查发现S3心音，脑钠肽水平升高至875 pg/ml，肌钙蛋白检测不到；入院时血钾水平为3.6 mEq/l。心电图显示窦性心律正常、一度房室传导阻滞、左心房扩大、左束支传导阻滞以及QTc延长至486毫秒。经胸超声心动图显示射血分数降低15%-20%，左心室整体运动减弱和左心房扩大。最终，他被诊断为非缺血性扩张型心肌病，并接受基因检测，结果发现一个变异。出院后不久，他经历了一次持续55秒的室性心动过速，需要植入单腔植入式心脏除颤器（ICD）。目前，该患者仍接受指南指导的药物治疗，并被列入心脏移植名单。
扩张型心肌病虽然是ATS的罕见表现，但可显著增加致命性心律失常的风险，因此需要保持较低的怀疑阈值，以确保及时诊断和管理。
安徒生-陶威尔综合征（ATS）可表现为射血分数降低的心力衰竭，即使没有周期性麻痹、畸形特征和心律失常的典型三联征。早期基因检测对于确诊ATS至关重要，尤其是在伴有不明原因心力衰竭或心律失常的非典型病例中。ATS具有不完全外显率，因此可能不表现出典型特征，这使得诊断具有挑战性，对于伴有不明原因心律失常或心源性猝死家族史的病例需要高度怀疑。
