Abstract：
Dilated cardiomyopathy (DCM) is defined as left ventricular enlargement accompanied by systolic dysfunction not explained by abnormal loading conditions or coronary heart disease. The DCM clinical spectrum is broad, ranging from subclinical to severe presentation with progression to end stage heart failure. To date, different genetic loci have been found to have moderate/definitive evidence for causality in DCM and pathogenic variants in the TTN gene represent the main genetic determinant. Here, we describe a family in which the co-occurrence of two genetic hits, one in the TTN and one in the BAG3 gene, was associated with heterogeneous clinical presentation ranging from subclinical phenotypes to acute cardiogenic shock mimicking fulminant myocarditis. We hypothesize that at least some specific BAG3 genotypes could be related to DCM presenting with acute heart failure and suggest that patients and relatives carrying BAG3 pathogenic variants should be addressed to a tertiary-level heart care center.
摘要：
扩张型心肌病（DCM）定义为左心室扩大伴有收缩功能障碍，无法由异常负荷状况或冠心病解释。DCM的临床范围很广，从亚临床到严重表现，进展到终末期心力衰竭。迄今为止,已发现不同的遗传基因座在DCM中具有中等/确定的因果关系的证据，并且TTN基因中的致病变异是主要的遗传决定因素。这里,我们描述了一个家族，其中两个遗传命中同时发生，一个在TTN，一个在BAG3基因，与从亚临床表型到模拟暴发性心肌炎的急性心源性休克的异质性临床表现相关。我们假设至少某些特定的BAG3基因型可能与伴有急性心力衰竭的DCM有关，并建议携带BAG3致病性变异的患者和亲属应前往三级心脏护理中心。
