Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center, University of Health Sciences, İstanbul, Turkey.
Turk Kardiyol Dern Ars. 2022 Oct;50(7):531-534. doi: 10.5543/tkda.2022.21286.
Emery-Dreifuss muscular dystrophy is one of a group of muscular dystrophies caused by a deficiency in genes encoding nuclear proteins (emerin, lamin A/C, nesprin). It progresses with joint contractures, muscular dystrophy, and cardiac involvement. Cardiac findings include dilated cardiomyopathy, conduction defects, and an associated increased risk of sudden cardiac death. We report the case of a young boy, aged 16, with lamin A/C gene mutation and dilated cardiomyopathy. From the patient's history, it was learned that his father and sister also had dilated cardiomyopathy and both died of heart failure. Cardiac resynchronization therapy implantation was planned in the follow-up of the patient due to progressive left ventricular dysfunction and left ventricular dyssynchrony. But the family did not accept this treatment option. The patient was placed on the heart transplant list. While waiting for a suitable donor, he died as a result of sudden cardiac arrest while he was being treated in the intensive care unit.
先天性肌营养不良症是由核蛋白（核纤层蛋白 A/C、核膜蛋白）基因缺陷引起的一组肌营养不良症之一。其进展伴有关节挛缩、肌肉营养不良和心脏受累。心脏表现包括扩张型心肌病、传导缺陷和相关的心脏性猝死风险增加。我们报告了一例 16 岁男孩，携带核纤层蛋白 A/C 基因突变和扩张型心肌病。从患者的病史中得知，他的父亲和妹妹也患有扩张型心肌病，两人均因心力衰竭而死亡。由于左心室功能逐渐恶化和左心室不同步，计划在随访中对患者进行心脏再同步治疗植入。但该家庭未接受该治疗选择。患者被列入心脏移植名单。在等待合适供体期间，他在重症监护病房接受治疗时因心脏骤停而死亡。
