Key result
Mutation screening of sarcomere genes established a genetic diagnosis in approximately 40% of families, with a higher yield in familial HCM (53%) compared to sporadic cases (19%).
Why the study?
Does combined genetic and clinical screening improve diagnostic yield and risk stratification in families with hypertrophic cardiomyopathy compared to clinical evaluation alone?
Population
90 Danish hypertrophic cardiomyopathy (HCM) index patients and their close relatives (total n=451)
Comparison
Family screening combining clinical evaluation… vs Clinical investigation alone
Design
Cohort
Authors
Loading...
Supports genetic screening to identify low-risk HCM relatives for potential discharge from follow-up; leaves open whether combined screening improves stratification over clinical evaluation alone.
Observational (n=451)
Does combined genetic and clinical screening improve diagnostic yield and risk stratification in families with hypertrophic cardiomyopathy compared to clinical evaluation alone?
Absolute Event Rate: 53% vs 19%
Mutation screening in HCM families is superior to clinical investigation alone for identifying individuals not at increased risk, allowing 60% of relatives to be safely discharged from follow-up.
Andersen et al. (2008) conducted an observational in Hypertrophic cardiomyopathy (n=451). Mutation screening of sarcomere encoding genes vs. Clinical investigation was evaluated on Genetic diagnostic yield in familial HCM vs. sporadic or unclear inheritance. Mutation screening of sarcomere genes established a genetic diagnosis in approximately 40% of families, with a higher yield in familial HCM (53%) compared to sporadic cases (19%).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: