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Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report
1Department of Cardiology, All India Institute of Medical Science, New Delhi, India.
Insights
This study reports the first case of the RBM20 gene variant p.Arg634Trp in an Indian patient with early-onset dilated cardiomyopathy (DCM). This pathogenic variant necessitates close clinical monitoring for affected family members.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
Background:
- Dilated cardiomyopathy (DCM) involves ventricular dilation and reduced ejection fraction (<40%).
- Numerous genes are implicated in DCM, distinguishing it from HCM and ARVC.
- Early-onset DCM can be associated with specific genetic mutations.
Purpose of the Study:
- To report a case of early-onset DCM in an Indian patient.
- To identify the genetic basis of familial DCM in this patient.
- To highlight the significance of the RBM20 gene variant in DCM.
Main Methods:
- Case presentation of a 19-year-old Indian male with DCM.
- Genetic screening to identify pathogenic variants.
- Analysis of the RBM20 gene for mutations.
Main Results:
- The patient presented with severe left ventricular dysfunction (ejection fraction 14%) and LBBB.
- Genetic analysis revealed a pathogenic variant c.1900C>T in the RBM20 gene, resulting in p.Arg634Trp.
- This is the first documented case of the p.Arg634Trp variant in an Indian population.
Conclusions:
- The RBM20 p.Arg634Trp variant is pathogenic and associated with early-onset DCM.
- This variant was previously reported in Western populations, but this is the first identification in an Indian patient.
- Family members carrying this variant require close clinical follow-up due to the risk of early-onset disease.
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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