BackgroundAlthough atrial fibrillation (AF) is common in hypertrophic cardiomyopathy (HCM) patients, the relationship between genetic variation and AF has been poorly defined. Characterizing genetic subtypes of HCM and their associations with AF may help to improve personalized medical care. We aimed to investigate the link between sarcomeric gene variation and incident AF in HCM patients.Methods and ResultsPatients from the multinational Sarcomeric Human Cardiomyopathy Registry were followed for incident AF. Those with likely pathogenic or pathogenic variants in sarcomeric genes were included. The AF incidence was ascertained by review of medical records and electrocardiograms at each investigative site. One thousand forty adult HCM patients, without baseline AF and with likely pathogenic or pathogenic variation in either MYH7 (n=296), MYBPC3 (n=659), or thin filament genes (n=85), were included. Compared with patients with variation in other sarcomeric genes, those with MYH7 variants were younger on first clinical encounter at the Sarcomeric Human Cardiomyopathy Registry site and more likely to be probands than the MYBPC3 variants. During an average follow-up of 7.2 years, 198 incident AF events occurred. Patients with likely pathogenic or pathogenic mutations in MYH7 had the highest incidence of AF after adjusting for age, sex, proband status, left atrial size, maximal wall thickness, and peak pressure gradient (hazard ratio, 1.7; 95% CI, 1.1–2.6; P=0.009).ConclusionsDuring a mean follow-up of 7.2 years, new-onset AF developed in 19% of HCM patients with sarcomeric mutations. Compared with other sarcomeric genes, patients with likely pathogenic or pathogenic variation in MYH7 had a higher rate of incident AF independent of clinical and echocardiographic factors.

中文翻译：

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房颤与肥厚型心肌病中的MYH7肌节基因变异有关。

背景尽管肥厚型心肌病（HCM）患者常见房颤（AF），但遗传变异与AF之间的关系尚不明确。表征HCM的遗传亚型及其与AF的关联可能有助于改善个性化医疗服务。我们的目的是调查HCM患者肌节基因变异与房颤的相关性。方法和结果随访多国肌节人类心肌病登记中心的患者进行房颤的研究。那些在肌节基因中可能具有致病性或致病性变异的患者也包括在内。通过检查每个研究部位的病历和心电图确定房颤发生率。一百四十例成人HCM患者，无基线房颤，或两者中均可能具有致病性或致病性变异包括MYH7（n = 296），MYBPC3（n = 659）或细丝基因（n = 85）。与具有其他肌节基因变异的患者相比，具有MYH7变体的患者在肌型人类心肌病登记处首次临床遭遇时较年轻，并且比MYBPC3变体更可能成为先证者。在平均7.2年的随访中，发生了198起AF事件。在调整了年龄，性别，先证者身份，左心房大小，最大壁厚和峰值压力梯度后，MYH7可能具有致病性或致病性突变的患者发生房颤的发生率最高（危险比，1.7； 95％CI，1.1–2.6 ；P= 0.009）结论在平均7.2年的随访期间，有19％的肌节突变型HCM患者发生了新发房颤。与其他肌节基因相比，MYH7可能具有致病性或致病性变异的患者发生房颤的发生率较高，而与临床和超声心动图因素无关。