Key result
Cardiological evaluation of asymptomatic MYBPC3 gene mutation carriers identified hypertrophic cardiomyopathy in 22.6%, with 11% having manifest disease and risk factors for sudden cardiac death.
Why the study?
What is the yield of risk stratification for sudden cardiac death and clinical diagnosis of HCM at the first cardiological evaluation in asymptomatic MYBPC3 gene mutation carriers?
Population
235 asymptomatic carriers of an MYBPC3 gene mutation
Design
Cross-sectional
Authors
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Screening asymptomatic MYBPC3 carriers may detect HCM and SCD risk; leaves open optimal screening strategies.
Cross-Sectional (n=235)
What is the yield of risk stratification for sudden cardiac death and clinical diagnosis of HCM at the first cardiological evaluation in asymptomatic MYBPC3 gene mutation carriers?
Predictive genetic testing in asymptomatic MYBPC3 mutation carriers yields a clinical diagnosis of HCM in 22.6% of individuals at first evaluation, identifying 11% at risk for sudden cardiac death.
Christiaans et al. (2009) conducted a cross-sectional in Hypertrophic cardiomyopathy (n=235). Cardiological evaluation was evaluated on Clinical diagnosis of hypertrophic cardiomyopathy. Cardiological evaluation of asymptomatic MYBPC3 gene mutation carriers identified hypertrophic cardiomyopathy in 22.6%, with 11% having manifest disease and risk factors for sudden cardiac death.
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