Abstract. AIMS: We investigated the presence of a clinical diagnosis of hypertrophic cardiomyopathy (HCM) and of risk factors for sudden cardiac death (SCD) at the first cardiological evaluation after predictive genetic testing in asymptomatic carriers of an MYBPC3 gene mutation. METHODS AND RESULTS: Two hundred and thirty-five mutation carriers were cardiologically evaluated on the presence of HCM and risk factors. A clinical diagnosis of HCM was made in 53 carriers (22.6%). Disease penetrance at 65 years was incomplete for all types of MYBPC3 gene mutations. Women were affected less often than men (15 and 32% respectively, P = 0.003) and disease penetrance was lower in females than in males (13 and 30% at 50 years, respectively, P = 0.024). One risk factor was present in 87 carriers and 9 had two or more risk factors. Twenty-five carriers (11%) with one or more risk factors and manifest HCM could be at risk for SCD. CONCLUSION: At first cardiological evaluation almost one-quarter of asymptomatic carriers was diagnosed with HCM. Risk factors for SCD were frequently present and 11% of carriers could be at risk for SCD. Predictive genetic testing in HCM families and frequent cardiological evaluation on the presence of HCM and risk factors for SCD are justified until advanced age.

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Keywords Adolescent, Adult, Aged, Aged, 80 and over, Analysis of Variance, Cardiomyopathy, Hypertrophic, Familial/*genetics, Carrier Proteins/*genetics, Child, Child, Preschool, Death, Sudden, Cardiac/*prevention & control, Female, Genetic Testing, Heterozygote, Humans, Infant, Male, Middle Aged, Mutation/*genetics, Penetrance, Risk Assessment, Risk Factors, Young Adult
Persistent URL dx.doi.org/10.1093/eurheartj/ehp539, hdl.handle.net/1765/23135
Christiaans, I., Birnie, E., van Langen, I.M., van Spaendonck-Zwarts, K.Y., van Tintelen, J.P., van den Berg, M.P., … Wilde, A.A.M.. (2010). The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. European Heart Journal, 31(7), 842–848. doi:10.1093/eurheartj/ehp539