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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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Familial Hypertrophic Cardiomyopathy With Fasciculoventricular Accessory Pathway
Vikas Kalra1, Krittapoom Akrawinthawong2, Maitri Kalra1
1Department of Cardiology, Indiana University School of Medicine, Muncie, Indiana, USA.
JACC. Case Reports
|February 24, 2022
Summary
Familial hypertrophic cardiomyopathy (HCM) with a rare fasciculoventricular bypass tract (FVBT) was identified. This condition was linked to a specific MYBPC3 gene variant, offering new insights into cardiac disorders.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent yet frequently underdiagnosed cardiac condition.
- Fasciculoventricular bypass tract (FVBT) represents a rare congenital anomaly of the cardiac conduction system.
- The co-occurrence of HCM and FVBT is notably associated with Danon disease.
Observation:
- This report details a rare case of familial HCM presenting with an coexisting fasciculoventricular bypass tract.
- The identified genetic link is a heterozygous pathogenic variant, c.655G>C (p.Val219Leu), within the MYBPC3 gene.
Findings:
- A novel association between familial hypertrophic cardiomyopathy and fasciculoventricular bypass tract is described.
- The study identifies a specific MYBPC3 gene variant (c.655G>C, p.Val219Leu) as the genetic driver for this combined condition.
- This finding expands the known spectrum of MYBPC3-related cardiac disorders.
Implications:
- This case highlights the importance of considering rare conduction anomalies in patients with familial HCM.
- Genetic testing for MYBPC3 variants may be crucial for diagnosing and managing familial HCM with FVBT.
- Understanding this genetic link can inform risk stratification and family screening for hypertrophic cardiomyopathy and related conditions.
Keywords:
CMR, cardiac magnetic resonanceDanon diseaseECG, electrocardiogramFVBT, fasciculoventricular bypass tractHCM, hypertrophic cardiomyopathyICD, implantable cardioverter-defibrillatorLAMP-2, lysosome-associated membrane protein 2MYBPC3, cardiac myosin binding protein C3NSVT, nonsustained ventricular tachycardiaWPW, Wolff-Parkinson-White syndromeaccessory pathwayfamilialhypertrophic cardiomyopathy
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