Key result
Novel RYR2 mutation links to biventricular arrhythmogenic cardiomyopathy with bi-ventricular dilation.
Why the study?
Arrhythmogenic cardiomyopathy can affect one or both ventricles, but biventricular involvement associated with RYR2 gene mutation is unusual and not previously reported.
Case Report (n=1)
This case highlights a potentially novel phenotypic manifestation of biventricular arrhythmogenic cardiomyopathy associated with an RYR2 missense mutation, which typically only causes right ventricular dilation.
Documents arrhythmogenic cardiomyopathy at age 62; leaves open questions on prevalence and screening in older adults.
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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Rana et al. (2025) conducted a case report in Biventricular arrhythmogenic cardiomyopathy (n=1). RYR2 gene mutation was evaluated. A 62-year-old man with an RYR2 gene mutation presented with a potentially novel phenotype of biventricular arrhythmogenic cardiomyopathy involving both right and left ventricular dilation.
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