Why the study?
Does variant pathogenicity correlate with histopathological damage and clinical severity in patients with obstructive hypertrophic cardiomyopathy?
Population
193 Chinese Obstructive Hypertrophic Cardiomyopathy patients, median age at operation 40.2 years, 111 men.
Comparison
Genetic testing using a 93-cardiomyopathy-related… vs Patients with VUS and no variants
Design
Cohort
Key result
Higher-grade pathogenic variants in obstructive hypertrophic cardiomyopathy were associated with more severe histopathological damage, earlier diagnosis, and pronounced clinical and rhythm alterations.
Authors
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Supports targeted genetic testing in HOCM with sudden death family history; leaves open histopathology's mediating role in genotype-phenotype links.
Cohort (n=193)
Does variant pathogenicity correlate with histopathological damage and clinical severity in patients with obstructive hypertrophic cardiomyopathy?
Higher-grade pathogenic variants in HOCM are associated with more severe histopathological changes, earlier diagnosis, and pronounced clinical alterations, highlighting a genotype-histology-phenotype interplay.
Yin et al. (2026) conducted a cohort in Obstructive Hypertrophic Cardiomyopathy (HOCM) (n=193). Pathogenic, likely pathogenic, or VUS-LP genetic variants vs. Variants of unknown significance (VUS) or no variants was evaluated on Clinical phenotype severity and histopathological alterations. Higher-grade pathogenic variants in obstructive hypertrophic cardiomyopathy were associated with more severe histopathological damage, earlier diagnosis, and pronounced clinical and rhythm alterations.