Key result
Clinical screening and predictive genetic testing of at-risk child relatives demonstrated a 6% (95% CI 2-18) penetrance of hypertrophic cardiomyopathy after 12 years of follow-up.
Why the study?
What is the penetrance of hypertrophic cardiomyopathy in child and adolescent relatives of patients with HCM?
Cohort (n=451)
What is the penetrance of hypertrophic cardiomyopathy in child and adolescent relatives of patients with HCM?
The low 6% penetrance of HCM in at-risk children over 12 years, with conversions occurring in the mid-20s, supports the need for continued screening into adulthood.
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Supports screening of at-risk relatives into adulthood; leaves open optimal surveillance duration and frequency.
Jensen et al. (2012) conducted a cohort in Hypertrophic cardiomyopathy (HCM) (n=451). Clinical screening and predictive genetic testing vs. Noncarriers was evaluated on Development of the HCM phenotype in at-risk child relatives who were phenotype negative at inclusion (95% CI 2-18). Clinical screening and predictive genetic testing of at-risk child relatives demonstrated a 6% (95% CI 2-18) penetrance of hypertrophic cardiomyopathy after 12 years of follow-up.
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