A Unique Case of Biventricular Arrhythmogenic Cardiomyopathy

TL;DR

A 62-year-old man with a RYR2 gene mutation developed biventricular arrhythmogenic cardiomyopathy, an unusual case not previously reported.

Contribution

The paper presents a novel phenotypic manifestation of arrhythmogenic cardiomyopathy linked to a RYR2 mutation affecting both ventricles.

Findings

The patient had biventricular dilation despite a RYR2 mutation typically associated with right ventricle dilation.

This case suggests a new clinical presentation of arrhythmogenic cardiomyopathy.

No prior literature reports this biventricular manifestation with RYR2 mutations.

Abstract

Arrhythmogenic cardiomyopathy is a type of heart disease that is a well-recognized cause of sudden cardiac death among the young population. It can affect the right ventricle, left ventricle, or both ventricles of the heart. This condition involves the replacement of heart muscle with fatty tissue, which can disrupt the heart’s normal electrical and mechanical function, leading to arrhythmias, heart failure, and increased risk of sudden cardiac death. We report the case of a 62-year-old man who came to the emergency room with nausea, vomiting, and palpitations. After further evaluation, he was diagnosed with heart failure secondary to biventricular arrhythmogenic cardiomyopathy. The patient was found to have a genetic mutation in the RYR2 gene, which usually causes dilation of the right ventricle. However, in this case, both the right and left ventricles were dilated, which is unusual since RYR2 mutations are typically linked to right ventricle dilation only. This may represent a potentially novel phenotypic manifestation of the disease associated with this mutation, as no other cases have been reported in the literature.

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