TY - JOUR
T1 - Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers
T2 - determining the best cardiological screening strategy
AU - Christiaans, Imke
AU - Birnie, Erwin
AU - Bonsel, Gouke J.
AU - Mannens, Marcel M. A. M.
AU - Michels, Michelle
AU - Majoor-Krakauer, Danielle
AU - Dooijes, Dennis
AU - van Tintelen, J. Peter
AU - van den Berg, Maarten P.
AU - Volders, Paul G. A.
AU - Arens, Yvonne H.
AU - van den Wijngaard, Arthur
AU - Atsma, Douwe E.
AU - Helderman-van den Enden, Apollonia T. J. M.
AU - Houweling, Arjan C.
AU - de Boer, Karin
AU - van der Smagt, Jasper J.
AU - Hauer, Richard N. W.
AU - Marcelis, Carlo L. M.
AU - Timmermans, Janneke
AU - van Langen, Irene M.
AU - Wilde, Arthur A. M.
PY - 2011/5
Y1 - 2011/5
N2 - Aims We investigated the presence of a clinical diagnosis of hypertrophic cardiomyopathy (HCM), risk factors for sudden cardiac death (SCD), and cardiac events during follow-up in predictively tested-not known to have a clinical diagnosis of HCM before the DNA test-carriers of a sarcomeric gene mutation and associations with age and gender to determine the best cardiological screening strategy.Methods and results One hundred and thirty-six (30%) of 446 mutation carriers were diagnosed with HCM at one or more cardiological evaluation(s). Male gender and higher age were associated with manifest disease. Incidence of newly diagnosed manifest HCM was 10% in older carriers, although numbers were small in carriers = 2 risk factors and manifest HCM) was present in 17 carriers during follow-up (2.4% per person-year). Age but not gender was associated with a high-risk status for SCD.Conclusion Thirty percent of carriers had or developed manifest HCM after predictive DNA testing and risk factors for SCD were frequently present. Our data suggest that the SCD risk is low and risk stratification for SCD can be omitted in carriers without manifest disease and that frequency of cardiological evaluations can possibly be decreased in carriers between 15 and 40 years as long as hypertrophy is absent.
AB - Aims We investigated the presence of a clinical diagnosis of hypertrophic cardiomyopathy (HCM), risk factors for sudden cardiac death (SCD), and cardiac events during follow-up in predictively tested-not known to have a clinical diagnosis of HCM before the DNA test-carriers of a sarcomeric gene mutation and associations with age and gender to determine the best cardiological screening strategy.Methods and results One hundred and thirty-six (30%) of 446 mutation carriers were diagnosed with HCM at one or more cardiological evaluation(s). Male gender and higher age were associated with manifest disease. Incidence of newly diagnosed manifest HCM was 10% in older carriers, although numbers were small in carriers = 2 risk factors and manifest HCM) was present in 17 carriers during follow-up (2.4% per person-year). Age but not gender was associated with a high-risk status for SCD.Conclusion Thirty percent of carriers had or developed manifest HCM after predictive DNA testing and risk factors for SCD were frequently present. Our data suggest that the SCD risk is low and risk stratification for SCD can be omitted in carriers without manifest disease and that frequency of cardiological evaluations can possibly be decreased in carriers between 15 and 40 years as long as hypertrophy is absent.
KW - Hypertrophic cardiomyopathy
KW - Sudden cardiac death
KW - Risk stratification
KW - Genetic
KW - BINDING-PROTEIN-C
KW - LEFT-VENTRICULAR HYPERTROPHY
KW - MYBPC3 GENE
KW - POPULATION
KW - STRATIFICATION
KW - NETHERLANDS
KW - PENETRANCE
KW - FAMILIES
KW - SOCIETY
KW - ONSET
U2 - 10.1093/eurheartj/ehr092
DO - 10.1093/eurheartj/ehr092
M3 - Article
SN - 0195-668X
VL - 32
SP - 1161
EP - 1170
JO - European Heart Journal
JF - European Heart Journal
IS - 9
ER -