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

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

JOURNAL=Frontiers in Genetics

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.954931

DOI=10.3389/fgene.2022.954931

ISSN=1664-8021

ABSTRACT=Around one third of patients diagnosed with idiopathic dilated cardiomyopathy (DCM) turn out to be familial cases, with the subsequent identification of a pathogenic variant. Cardiomyopathy caused by desmoplakin gene mutations represents a distinct form with a high prevalence of left ventricle involvement. We report a novel desmoplakin mutation in a Taiwanese family, in which the proband recovered well after heart transplantation and under medical control. 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.