Key result
Genetic testing of a 65-year-old man with recurrent ventricular tachycardia identified a novel likely pathogenic variant in the DSC2 gene and a variant of uncertain significance in the RYR2 gene.
Why the study?
ARVC is a heritable cardiomyopathy and a common cause of sudden cardiac death in young athletes, making early identification, correct prevention, and treatment essential to avoid adverse outcomes.
Case Report (n=1)
This case report identifies a novel likely pathogenic DSC2 variant and a RYR2 variant of uncertain significance in a 65-year-old man with ARVC and recurrent ventricular tachycardia.
Alerts clinicians to DSC2 in late-onset ARVC with VT; leaves open variant pathogenicity and screening utility pending validation.
Background. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants of genes encoding desmosomal (JUP, DSP, PKP2, DSG2, DSC2) and non-desmosomal proteins, and is one of the most common causes of sudden cardiac death in young athletes. Therefore, early identification, correct prevention and treatment can prevent adverse outcomes.Case report. Our case presents a 65-years-old man with recurrent ventricular tachycardia. The ischemic cause was the first to rule out. Echocardiography revealed right ventricular structural and functional abnormalities. After suspicion of ARVC, magnetic resonance imaging was performed showing reduced right ventricular ejection fraction with local aneurysms, structural changes ir the right and left myocardium. Subsequently performed genetic testing identified a novel ARVC likely pathogenic variant in DSC2 gene and variant of uncertain significance in RYR2 gene.Conclusions. Diagnostic evaluation of ARVC is challenging and requires multidisciplinary team collaboration. Further functional tests for elucidation of the clinical significance of the two novel variants of ARVC-associated genes could be suggested.
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Gabartaitė et al. (2021) conducted a case report in Arrhythmogenic right ventricular cardiomyopathy (n=1). Genetic testing was evaluated on Identification of genetic variants. Genetic testing of a 65-year-old man with recurrent ventricular tachycardia identified a novel likely pathogenic variant in the DSC2 gene and a variant of uncertain significance in the RYR2 gene.
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