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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound
Sofiya Andreeva1, Olga Chumakova2, Elena Karelkina3
1Institute of Molecular Biology and Genetics and World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, Russia.
Frontiers in Genetics
|March 11, 2022
Summary
Hypertrophic cardiomyopathy (HCM) in young athletes can be caused by rare TRIM63 gene variants. These cases highlight the need for updated risk models for genetic cardiomyopathies.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease with variable clinical presentations.
- Most HCM cases stem from sarcomere protein gene mutations, but rare variants require further investigation.
- Existing risk models for HCM are not validated for cohorts with rare genetic causes.
Observation:
- Two young male sportsmen presented with hypertrophic cardiomyopathy (HCM) linked to TRIM63-compound heterozygous variants.
- Cases showed progressive cardiac hypertrophy, diastolic dysfunction, and significant fibrosis on MRI.
- One patient exhibited extreme hypertrophy, a novel presentation for TRIM63-HCM.
Findings:
- TRIM63 variants, causing autosomal-recessive HCM, present unique clinical challenges.
- The identified variants led to severe cardiac phenotypes in young athletes.
- This study details the clinical course and imaging findings in TRIM63-HCM.
Implications:
- These findings underscore the importance of considering rare genetic variants in HCM diagnosis and management.
- Further research into TRIM63's role is crucial for understanding its molecular mechanisms in cardiac and muscle phenotypes.
- Updated risk stratification models are needed for patients with rare genetic causes of HCM, particularly athletes.
