A 30-year-old lady was admitted to the hospital with progressive exertional dyspnoea and bradycardia. A complete atrioventricular block was diagnosed using 12‑lead electrocardiography and a transthoracic echocardiography revealed a severely impaired left ventricular systolic dysfunction with an ejection fraction of 20%. Following hospitalization, her coronary angiography was normal, so a whole exome sequencing was conducted. The novel Lamin A/C Gene missense mutation c.263C > A,p.Ala88Asp in exon 3 was identified. A CRT-D was implanted due to the high risk of life-threatening ventricular arrhythmias and low potential for left ventricular reverse remodelling. The patient is undergoing follow-ups at the outpatient clinic, showing a 25% improvement in left ventricular ejection fraction during the last visit.

一名 30 岁的女士因进行性劳力性呼吸困难和心动过缓入院。使用 12 导联心电图诊断完全性房室传导阻滞，经胸超声心动图显示左心室收缩功能障碍严重受损，射血分数为 20%。住院后，她的冠状动脉造影正常，因此进行了全外显子组测序。鉴定了外显子 3 中的新型 Lamin A/C 基因错义突变 c.263C > A,p.Ala88Asp。由于危及生命的室性心律失常的高风险和左心室逆转重构的可能性低，因此植入了 CRT-D。该患者正在门诊接受随访，最后一次就诊时左心室射血分数改善了 25%。