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

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

研究成果: Article同行評審

摘要

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.

原文English
文章編號954931
期刊Frontiers in Genetics
13
DOIs
出版狀態Published - 2022 9月 23

All Science Journal Classification (ASJC) codes

  • 分子醫學
  • 遺傳學
  • 遺傳學(臨床)

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