AIMS: We investigated the presence of a clinical diagnosis of @entity1121 ( @entity1121 ), risk factors for @entity1164 ( @entity10479 ), and @entity299 during follow-up in predictively tested-not known to have a clinical diagnosis of @entity1121 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 @entity1121 at one or more cardiological evaluation(s). Male gender and higher age were associated with @entity66 . Incidence of newly diagnosed manifest @entity1121 was <10% per @entity1 -year under the age of 40 years and >10% in older carriers, although numbers were small in carriers <15 years. Twenty-three percent of carriers, with and without @entity66 , had established risk factor(s) for @entity10479 (no @entity10479 ). During an average follow-up of 3.5    1.7 years two carriers, both with @entity66 , died suddenly (0.13% per @entity1 -year). A high-risk status for @entity10479 (>= 2 risk factors and manifest @entity1121 ) was present in 17 carriers during follow-up (2.4% per @entity1 -year). Age but not gender was associated with a high-risk status for @entity10479 . CONCLUSION: Thirty percent of carriers had or developed manifest @entity1121 after predictive DNA testing and risk factors for @entity10479 were frequently present. Our data suggest that the @entity10479 risk is low and risk stratification for @entity10479 can be omitted in carriers without @entity66 and that frequency of cardiological evaluations can possibly be decreased in carriers between 15 and 40 years as long as @entity1184 is absent.

@entity66 , risk factors for @entity1164 , and @entity299 in a large nationwide cohort of predictively tested XXXX mutation carriers: determining the best cardiological screening strategy.

@entity1164 :: ('MESH:D016757', 'Disease') :: ['sudden cardiac death'] @entity1 :: ('9606', 'Species') :: ['person'] @entity10479 :: ('MESH:D065309', 'Disease') :: ['SCD', 'significant difference'] @entity66 :: ('MESH:D004194', 'Disease') :: ['manifest disease'] @entity1184 :: ('MESH:D006984', 'Disease') :: ['hypertrophy'] @entity299 :: ('MESH:D006331', 'Disease') :: ['cardiac events'] @entity1121 :: ('MESH:D002312', 'Disease') :: ['HCM', 'hypertrophic cardiomyopathy']
@entity1121 :: (MESH:D002312,Disease) :: ['hypertrophic cardiomyopathy']
