期刊
FRONTIERS IN GENETICS
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.954931
关键词
familial dilated cardiomyopathy (FDC); desmoplakin gene (DSP); heart transplantation (HTx); whole exome sequencing; dilated cardiomyopathy (DCM)
Approximately one-third of cases of dilated cardiomyopathy are familial, and a novel desmoplakin mutation was found in two individuals of a Taiwanese family. The patient recovered well after heart transplantation and medical control, while her son underwent different treatment.
Around one-third of patients diagnosed with idiopathic dilated cardiomyopathy (DCM) turn out to be familial cases, in only a few of which the identification of a pathogenic/likely pathogenic variant could be achieved. Cardiomyopathy caused by desmoplakin gene mutations represents a distinct form with a high prevalence of left ventricle involvement. We report a novel desmoplakin mutation carried by two individuals in a Taiwanese family, in which the proband recovered well after heart transplantation and under medical control, while her son had received an implantable cardioverter defibrillator and has been under guideline-directed medical therapy. The present study broadens the genetic spectrum of this disease entity and strengthens the notion that a detailed family history with genetic study contributes to the early detection and treatment of inherited diseases.
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