Open AccessArrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report
Author(s) -
Rui Huang,
Yinhua Luo,
Jingbo Zhao,
Ke Su,
Yuhua Lei,
Yuanhong Li
Publication year - 2021
Publication title -
international medical case reports journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.198
H-Index - 11
ISSN - 1179-142X
DOI - 10.2147/imcrj.s309668
Subject(s) - medicine , missense mutation , proband , penetrance , mutation , frameshift mutation , genetic testing , genetics , gene mutation , cardiology , gene , biology , phenotype
ARVC is a rare genetic-related disease characterized by fibrous fat replacement in the ventricular myocardium, caused by mutations in genes encoding for the desmosomal proteins, such as the desmoglein-2 gene (DSG2). It is reported in the literature that other genetic factors may play a role in disease penetrance. Herein, we report a Chinese proband with ARVC, which was probably caused by DSG2 p.Val149Ile mutation as genetic background when carrying heterozygous PRRT2 p.Arg217ProfsTer8 mutation.