Pătru Alina Elena, Onciul Sebastian, Sturzu Adrian, Cinteză Eliza, Gima Eleonora, Popescu Bogdan A, Chevalier Philippe, Jurcuț Ruxandra
Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, Sos. Fundeni nr. 258, 022328 Bucharest, Romania.
Department 4-Cardiothoracic Pathology, University of Medicine and Pharmacy Carol Davila, Eroii Sanitari Bvd. 8, 050474 Bucharest, Romania.
Diagnostics (Basel). 2020 Aug 31;10(9):651. doi: 10.3390/diagnostics10090651.
The present case report describes a mother and son with arrhythmogenic cardiomyopathy (ACM) with early and greater left ventricle (LV) involvement. The presence of curly hair in both, together with the resuscitated sudden cardiac death of the mother, allowed timely genetic testing, which found a pathogenic nonsense mutation of the desmoplakin gene. While asymptomatic from an arrhythmic point of view, the son's evolution was characterized by a well-documented exercise-induced myocarditis-like stage.
本病例报告描述了一对患有致心律失常性心肌病(ACM)且早期左心室(LV)受累程度较重的母子。两人均有卷发,母亲曾复苏成功的心脏性猝死事件促使进行了及时的基因检测,结果发现桥粒斑蛋白基因存在致病性无义突变。从心律失常角度看,儿子并无症状,但其病程以有充分记录的运动诱发的心肌炎样阶段为特征。