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Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk
Cristian Orlando Porras Bueno1, Cesar Augusto Balaguera1, Alejandro Mariño Correa1,2
1Departamento de Medicina Interna Pontificia Universidad Javeriana Bogotá Colombia.
Clinical Case Reports
|January 22, 2026
Summary
Genetic variants in the RBM20 gene cause familial dilated cardiomyopathy (DCM) and heart failure. Genetic testing aids early diagnosis and personalized treatment for RBM20 cardiomyopathy patients and their families.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- The RBM20 gene encodes a protein crucial for cardiac gene splicing.
- Pathogenic RBM20 variants are linked to familial dilated cardiomyopathy (DCM), heart failure, and sudden cardiac death.
Purpose of the Study:
- To report a case of DCM caused by a novel RBM20 variant.
- To emphasize the importance of genetic testing in diagnosing DCM and identifying at-risk relatives.
Main Methods:
- Clinical evaluation of a patient with heart failure and reduced ejection fraction.
- Genetic testing to identify the RBM20 variant (c.1907G>A; p.Arg636His).
- Family screening to confirm genetic transmission.
Main Results:
- A 23-year-old male diagnosed with DCM due to a heterozygous RBM20 missense variant.
- The same variant identified in his asymptomatic mother and DCM-affected sister.
- Patient received guideline-directed therapy and referral for an implantable cardioverter-defibrillator.
Conclusions:
- Genetic testing is vital for young patients with non-ischemic cardiomyopathy.
- Early identification of at-risk family members enables personalized management.
- Antisense oligonucleotide therapy and gene editing show potential for future RBM20 cardiomyopathy treatments.
Keywords:
case reportsdilated cardiomyopathyhuman ribonucleic acid binding motif protein 20hypertrophic cardiomyopathyrestrictive cardiomyopathyMore Related Videos
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