Key result
A heterozygous c.1900C>T variant in the RBM20 gene was identified in a 19-year-old Indian male with severe familial dilated cardiomyopathy, leading to sudden cardiac death.
Why the study?
Dilated cardiomyopathy is genetically heterogeneous, and early-onset disease associated with an RBM20 pathogenic variant had not been reported in an Indian patient.
Case Report (n=1)
The RBM20 p.Arg634Trp variant is associated with severe, early-onset familial dilated cardiomyopathy and sudden cardiac death in the Indian population, highlighting the importance of genetic and echocardiographic screening for family members.
Supports cascade genetic testing now in similar pedigrees; leaves open ethnicity-specific risks of this RBM20 variant.
BACKGROUND: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. CASE PRESENTATION: A 19-year-old Indian male diagnosed with DCM was suggested for heart transplantation. His ECG showed LBBB and echocardiography showed an ejection fraction of 14%. He had a sudden cardiac death. A detailed family history revealed it to be a case of familial DCM. Genetic screening identified the c.1900C>T variant in the RBM20 gene which led to a missense variant of amino acid 634 (p.Arg634Trp). CONCLUSION: To the best of our knowledge, the variant p.Arg634Trp has been earlier reported in the Western population, but this is the first case of p.Arg634Trp in an Indian patient. The variant has been reported to be pathogenic at an early age of onset; therefore, close clinical follow-up should be done for the family members caring for the variant.
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Das et al. (2021) conducted a case report in Familial dilated cardiomyopathy (n=1). RBM20 gene mutation (c.1900C>T) was evaluated on Genetic diagnosis and clinical outcome. A heterozygous c.1900C>T variant in the RBM20 gene was identified in a 19-year-old Indian male with severe familial dilated cardiomyopathy, leading to sudden cardiac death.
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