AUTHOR=Li Kun , Wang Yifei , Yang Jing , Liu Fang , Liu Fulan , Zhang Ping 

TITLE=Case Report: Identification of novel CDH2 mutation (p. P183A het)-induced arrhythmogenic cardiomyopathy in China

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2023.1258807

DOI=10.3389/fcvm.2023.1258807

ISSN=2297-055X

ABSTRACT=Background:
Arrhythmogenic Cardiomyopathy/Dysplasia (ACM) is an inheritable heart disease closely related to gene variations induced heart fibrofatty replacement, which increased risk of arrhythmia events and even sudden cardiac death. In this study, we reported a 10-year-old patient diagnosed as ACM with novel mutation.
Case Presentation:
We present the case of a 10-year-old patient admitted with recurrent palpitation, whose electrocardiogram suggested the existence of right ventricle origin premature ventricular contractions and ε wave. Besides, echocardiography showed enlarged right ventricle corrected to body surface area 29.57mm/m2. The diagnosis of ACM was clear. Further gene sequencing revealed a novel heterozygous missense mutation of CDH2 (cadherin-2) c.547C>G (p. P183A) that potentially increase ACM risk by affecting adherens junctions of the intercalated discs.
Conclusions:
This is the first case of CDH2 mutation (c.547C>G, p. P183A) related ACM in Chinese population. Compared to previously reported mutations inducing ACM by affecting desmosome function, the newly reported CDH2 variation revealed novel potential mechanism inducing ACM by disturbing cell-cell adhesion.