Wells Quinn S, Ausborn Natalie L, Funke Birgit H, Pfotenhauer Jean P, Fredi Joseph L, Baxter Samantha, Disalvo Thomas D, Hong Charles C
Center for Inherited Heart Disease, Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232.
Cardiogenetics. 2011 Aug 22;1(1). doi: 10.4081/cardiogenetics.2011.e10.
Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 genes known to be associated with DCM, rare variants in the and genes have been reported in several cases of DCM. In this report, we describe a family with DCM and congenital abnormalities who carry a novel missense mutation in the gene. More severely affected family members also possess a second missense variant in , raising the possibility that this variant may be a disease modifier. Interestingly, many of the affected individuals also have congenital defects, including two with bicuspid aortic valve with aortic regurgitation. We discuss the implications of the family history and genetic information on management of at-risk individuals with aortic regurgitation.
特发性扩张型心肌病（DCM）是一种原发性心肌疾病，其特征为心室腔扩大和收缩功能障碍。20%至50%的特发性DCM病例被认为有遗传原因。在已知与DCM相关的30多个基因中，已有数例DCM病例报告了 和 基因中的罕见变异。在本报告中，我们描述了一个患有DCM和先天性异常的家系，该家系携带 基因中的一种新型错义突变。受影响更严重的家庭成员在 基因中还存在另一种错义变异，这增加了该变异可能是疾病修饰因子的可能性。有趣的是，许多受影响个体还患有先天性缺陷，包括两名患有主动脉瓣二瓣化伴主动脉反流的患者。我们讨论了家族史和遗传信息对有主动脉反流风险个体管理的影响。
