Rushakoff Joshua A, Flores Rosario Karen, Grover Phoenix, Wang Andrew
Duke University Medical Center, Division of Cardiology, Box 3182, Durham, NC 27710, USA.
Eur Heart J Case Rep. 2025 Aug 23;9(9):ytaf415. doi: 10.1093/ehjcr/ytaf415. eCollection 2025 Sep.
Genetic aetiologies of early-onset arrhythmias and cardiomyopathy (CM) are common, but timely diagnosis requires a high index of suspicion.
An asymptomatic 47-year-old man presented to cardiology clinic for smartwatch low-rate alarms. His brother had exertional syncope and died in his 20s from heart failure. Transthoracic echocardiogram showed reduced left ventricular ejection fraction (35%). A Holter monitor showed third-degree atrioventricular block and frequent pauses (longest 4.9 s). He was admitted to the hospital and following a cardiac magnetic resonance imaging with late gadolinium enhancement a cardiac resynchronization therapy-defibrillator was placed. Genetic testing identified a pathogenic variant in the lamins protein A and C (LMNA) gene.
Left ventricular dysfunction with or without arrhythmias should raise concern for familial CM and warrants further evaluation. Lamin A/C cardiomyopathy is the second most prevalent cause of familial dilated CM and is notable for an indolent course with conduction disturbances that frequently precede left ventricular dysfunction. Smartwatch alarms can potentially help with the early identification of patients with risk factors for familial CM before the development of overt symptoms.
早发性心律失常和心肌病(CM)的遗传病因很常见,但及时诊断需要高度的怀疑指数。
一名47岁无症状男性因智能手表低心率警报前往心脏病诊所就诊。他的哥哥有劳力性晕厥,20多岁时死于心力衰竭。经胸超声心动图显示左心室射血分数降低(35%)。动态心电图监测显示三度房室传导阻滞和频繁停搏(最长4.9秒)。他入院后,在进行心脏磁共振成像及延迟钆增强检查后,植入了心脏再同步化治疗除颤器。基因检测在核纤层蛋白A和C(LMNA)基因中发现了一个致病变异。
伴有或不伴有心律失常的左心室功能障碍应引起对家族性CM的关注,并需要进一步评估。核纤层蛋白A/C心肌病是家族性扩张型CM的第二大常见病因,其特点是病程隐匿,传导障碍常先于左心室功能障碍出现。智能手表警报可能有助于在明显症状出现之前早期识别有家族性CM危险因素的患者。