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Familial dilated cardiomyopathy linked with hearing loss in brothers: case report

机译:家族性扩张型心肌病与兄弟姐妹的听力损失相关:病例报告

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Dilated cardiomyopathy (DCM) is the third leading cause of severe heart failure and the most common cause of heart transplantation. Many cases (25–30%) of DCM are familial, indicating a genetic contribution to the etiology. The diagnosis of Familial dilated cardiomyopathy (FDC) is clinically based on the clinical manifestation, with at least two affected members from the same family. More than 30 genes associated with FDC have been identified, but still theses explain only a minority of the etiology of FDC. Here we present a strange case of FDC accompanied by hearing loss and rapid progressive course. The manifestations of FDC in this family was really rare and it is anticipated that more susceptibility genes may be discovered.
机译:扩张型心肌病(DCM)是严重心力衰竭的第三大主要原因,也是心脏移植的最常见原因。 DCM的许多病例(25–30%)是家族性的,表明其对病因的遗传贡献。家族性扩张型心肌病(FDC)的临床诊断是基于临床表现,并且至少有两个受影响的成员来自同一家庭。已经鉴定出与FDC相关的30多个基因,但这些仍然只能解释FDC的病因中的一小部分。在这里,我们介绍了一个奇怪的FDC案例,伴有听力损失和快速进行过程。 FDC在该家族中的表现确实很少见,并且有望发现更多的易感基因。

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