Unit for Athletes & Hereditary Cardiovascular Diseases (EKKAN), 1st Cardiology Department, National & Kapodistrian University of Athens University Medical School, Hippokration Hospital, Athens, Greece.
Future Cardiol. 2020 Nov;16(6):629-634. doi: 10.2217/fca-2020-0030. Epub 2020 Jun 8.
Familial dilated cardiomyopathy predominantly affects younger adults and may cause advanced heart failure and sudden cardiac death. Therefore, detailed family history, family members screening, appropriate genetic testing and counselling may allow correct identification of cardiac remodeling etiology, as well as earlier disease detection. Accordingly, we present a case with an early diagnosis of an X-linked dilated cardiomyopathy guided by clinical features, cardiac MRI and genetic testing. The diagnostic workup was guided by the positive family history of cardiomyopathy and sudden cardiac deaths. Clinical implications including early management, better arrythmia risk stratification and the revealing of a potential endemic entity clustering in several male subjects of a community on Crete island are further discussed.
家族性扩张型心肌病主要影响年轻成年人，可能导致晚期心力衰竭和心源性猝死。因此，详细的家族史、家庭成员筛查、适当的基因检测和咨询可以帮助正确识别心脏重构的病因，并更早地发现疾病。因此，我们报告了一例由临床特征、心脏 MRI 和基因检测指导的 X 连锁扩张型心肌病的早期诊断。诊断工作由心肌病和心源性猝死的阳性家族史指导。进一步讨论了临床意义，包括早期管理、更好的心律失常风险分层，以及揭示克里特岛一个社区的几个男性对象中存在潜在的地方性实体聚集现象。
