Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation

Author:

Chang Yi-Han,Lin Pei,Lin Jia-Ling,Huang Hsin-Yu,Hsu Chao-Kai,Hsu Chih-Hsin

Abstract

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.

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

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1. Multiple drugs;Reactions Weekly;2023-04-01

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