Key result
Apical variant HCM is linked to ~75% negative genetic tests, primarily involving MYBPC3 and MYH7 mutations.
Why the study?
What is the spectrum of mutations and do genotype-phenotype correlations predict adverse events in patients with apical hypertrophic cardiomyopathy?
Cohort (n=1,053)
Blinded assessment
What is the spectrum of mutations and do genotype-phenotype correlations predict adverse events in patients with apical hypertrophic cardiomyopathy?
Apical hypertrophic cardiomyopathy is an uncommon morphological subtype associated with a low yield of positive genetic testing (25%), predominantly involving MYBPC3 and MYH7 mutations, with genotype status not significantly impacting adverse event rates.
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Genotype status may not guide risk stratification in apical HCM; leaves open prospective validation of mutation-specific outcomes.
Towe et al. (2014) conducted a cohort in Hypertrophic cardiomyopathy (n=1,053). Sarcomeric genetic testing vs. Genotype-negative patients was evaluated on Occurrence rates of adverse events. Apical variant hypertrophic cardiomyopathy occurred in <10% of patients and was associated with a negative genetic test 75% of the time, with MYBPC3 and MYH7 being the most common mutations.
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