Abstract 17747: Gynecological Manifestations in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy: A Desmosomal Link?

Abstract

Introduction: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is inherited cardiomyopathy which is caused by desmosomal protein gene mutations, primarily in the desmoplakin (DSP), plakophilin-2 (PKP2), and desmoglein-2 (DSG2) genes. It is characterized pathologically by myocardial atrophy, fibrofatty replacement, and fibrosis, precipitating ventricular arrhythmias (VA). Desmosomal mutations have been linked to impaired follicular development and leiomyoma formation. However, there is little information about the association of their expression in myocardial with ovarian or uterine tissues. As incidences of ARVC/D in women increase, it is crucial to determine if women with the gynecological manifestations of these mutations are at a higher risk of developing ARCV/D. Case: We report a case of a 32-year-old female who presented with exercise-induced palpitations and syncopal episodes. She has a history of severe dysmenorrhea but has no medical conditions otherwise. On monitoring, she was found to have a high burden of ventricular premature complexes (VPCs). VAs were thought to have precipitated her syncopal episodes. She was started on antiarrhythmics. Echocardiogram demonstrated right ventricular dilatation and wall thinning. The patient later underwent genetic testing, which confirmed ARVC-associated mutations. Her dysmenorrhea was managed with combined oral contraceptives and nonsteroidal anti-inflammatory drugs. Pelvic ultrasound revealed leiomyomas, which were surgically removed. Discussion: This case supports the possible complex interplay between cardiovascular and gynecological conditions in patients with desmosomal mutations. Desmosomes are specialized protein complexes crucial in maintaining tissue's structural and mechanical stability. Mutations in desmosome genes disrupt the normal functioning of these protein complexes, leading to impaired cell-cell adhesion and increased vulnerability to tissue damage. The next step is to conduct studies to better understand the risk of developing cardiovascular disease in patients presenting with these gynecological conditions and vice versa to provide early monitoring and treatment.