Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations

Area of Science:

• Genetics
• Cardiology
• Neurology

Background:

• MYH7-related disease (MRD) is the most frequent hereditary primary cardiomyopathy.
• Pathogenic MYH7 variants cause ~40% of familial hypertrophic cardiomyopathies.
• MRD can manifest as skeletal myopathies, with or without cardiac involvement.

Observation:

• MYH7 variants lead to diverse clinical phenotypes, ranging from mild to fatal cardiac and skeletal myopathies.
• Genotype-phenotype correlations in MRD are often unclear, complicating clinical application.
• Six MRD pedigrees with rare genotypes and varied presentations were analyzed.

Findings:

• The study identified new genotype-phenotype correlations within the MYH7-related disease spectrum.
• Analysis revealed diverse clinical presentations and inheritance patterns associated with rare MYH7 variants.
• Insights into the variability of MRD manifestations were gained.

Implications:

• Understanding genotype-phenotype correlations aids in personalized treatment strategies for MRD.
• This data facilitates improved surveillance and genetic counseling for affected families.
• The findings offer direct clinical applicability for managing MYH7-related diseases.