Why the study?
What is the prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy?
Population
79 consecutive patients diagnosed with hypertrophic cardiomyopathy (HCM) aged 13 years or younger
Design
Cross-sectional
Key result
Genetic screening of preadolescent children with hypertrophic cardiomyopathy identified sarcomere protein gene mutations in 53.2% of patients, demonstrating familial disease is common.
Authors
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May support family screening in pediatric HCM; leaves open prospective validation of yield and outcomes.
Observational (n=79)
What is the prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy?
Familial disease caused by sarcomere protein gene mutations is a common cause of hypertrophic cardiomyopathy in infants and children, indicating that first-degree relatives should be offered screening.
Kaski et al. (2009) conducted an observational in Hypertrophic cardiomyopathy (n=79). Genetic screening was evaluated on Prevalence of sarcomere protein gene mutations. Genetic screening of preadolescent children with hypertrophic cardiomyopathy identified sarcomere protein gene mutations in 53.2% of patients, demonstrating familial disease is common.
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