Heart failure & cardiomyopathies
Gene-echocardiography: refining genotype–phenotype correlations in hypertrophic cardiomyopathy
Authors' conclusion
Our findings underscore a strong link between hypertrophic patterns and genetic variants in HCM, providing a foundation for more accurate genetic testing and personalized management of HCM patients.
Study context
- Population
- Hypertrophic cardiomyopathy (HCM)-affected families evaluated by whole exome sequencing and echocardiography392 HCM-affected families
- Exposure
- HCM patients with vs without gene mutations; hypertrophic patterns by gene
- Outcome
- Association between hypertrophic patterns on echocardiography and genetic variants
Methodological detailswhole exome sequencing
- Whole exome sequencing
Main finding
As reported in the abstract
Hypertrophic patterns by genotype
- Increased susceptibility to enhanced septal and interventricular septal thickness in mutation carriers vs non-carriers
- Mid-septal hypertrophy associated predominantly with myosin binding protein C3 (MYBPC3) variants
- Higher septum-to-posterior wall ratio correlated with MYH7 variants
- MYH7, MYBPC3 and other sarcomeric/myofilament genes (TNNI3, TPM1, TNNT2): increased hypertrophy in anterior wall, interventricular septum and lateral LV wall
- ALPK3-associated hypertrophy chiefly apical
- To titin (TTN)- and obscurin (OBSCN)-related hypertrophy uniformly distributed across the myocardium
Observational data: associations, not effects.
Original publication
Gene-echocardiography: refining genotype–phenotype correlations in hypertrophic cardiomyopathy. Eur Heart J Cardiovasc Imaging. Published 10 August 2023. doi:10.
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