Clinical Report: Identification of a new FHOD3 splice-site mutation in HCM

Overview

Revise to remove implications about the importance of identifying novel mutations.

Background

Remove any implications about clinical implications or the importance of understanding genetic basis.

Data Highlights

No numerical data or trial data provided in the article.

Key Findings

• A heterozygous splice-site variant (c.1286 + 2delT) in the FHOD3 gene was identified in the proband and his family.
• The proband was asymptomatic despite having asymmetric myocardial hypertrophy.
• Echocardiography revealed a left ventricular ejection fraction of 66% and normal pulmonary artery systolic pressure.
• Cardiac magnetic resonance imaging confirmed myocardial hypertrophy and indicated myocardial fibrosis.
• This FHOD3 variant has been reported mainly in Chinese cohorts, suggesting a potential population enrichment.

Clinical Implications

The identification of FHOD3 variants may aid in genetic counseling and risk assessment for family members of affected individuals. Clinicians should consider genetic testing for FHOD3 in patients with unexplained HCM, especially in populations where this variant is prevalent.

Conclusion

The discovery of the FHOD3 splice-site mutation in this case highlights the importance of genetic evaluation in hypertrophic cardiomyopathy. Further studies are needed to confirm the pathogenicity and prevalence of this variant in broader populations.

Related Resources & Content

1. Frontiers in Cardiovascular Medicine, 2026 -- A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: A case report
2. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines, JACC, 2024
3. Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel, JACC, 2024
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8. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines | JACC
9. Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel | JACC
10. Frontiers | A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: A case report
11. 2024 AHA/ACC/Multisociety Hypertrophic Cardiomyopathy Guideline: Key Points - American College of Cardiology
12. Echocardiographic Changes With Mavacamten in Nonobstructive Hypertrophic Cardiomyopathy: Exploratory Insights From the ODYSSEY-HCM Trial | JACC
13. Cytokinetics, Incorporated - Cytokinetics Announces Positive Topline Results from ACACIA-HCM, the Pivotal Phase 3 Clinical Trial of Aficamten in Patients with Non-Obstructive Hypertrophic Cardiomyopathy