An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.

ABSTRACT:

Aims

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by right ventricular myocardial replacement and life-threatening ventricular arrhythmias. Desmosomal gene mutations are sometimes identified, but clinical and genetic diagnosis remains challenging. Desmosomal skin disorders can be caused by desmosomal gene mutations or autoantibodies. We sought to determine if anti-desmosome antibodies are present in subjects with ARVC.

Methods and results

We evaluated ARVC subjects and controls for antibodies to cardiac desmosomal cadherin proteins. Desmoglein-2 (DSG2), desmocollin-2, and N-cadherin proteins on western blots were exposed to sera, in primary and validation cohorts of subjects and controls, as well as the naturally occurring Boxer dog model of ARVC.

SUBMITTER: Chatterjee D 

PROVIDER: S-EPMC6247665 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature