AIMS: Phenotypic heterogeneity and incomplete penetrance are common in @entity1 with @entity1121 ( @entity1121 ). We aim to improve the understanding in genotype-phenotype correlations in @entity1121 , particularly the contribution of an @entity18964 founder mutation and risk factors to left @entity5707 . METHODS AND RESULTS: We analysed 14 @entity1121 families of whom 38 family members share the @entity18964 @entity60079 [ @entity63358 ] mutation and a common founder haplotype. In this unique cohort, we investigated factors influencing phenotypic outcome in addition to the primary mutation. The mutation alone showed benign disease manifestation with low penetrance. The co-presence of additional risk factors for @entity1184 such as @entity101 , @entity28 , or other sarcomeric gene mutation increased disease penetrance substantially and caused @entity1121 in 89% of @entity18964 mutation carriers (P = 0.0005). The most prominent risk factor was @entity101 , observed in 71% of mutation carriers with @entity1121 and an additional risk factor. CONCLUSION: The @entity18964 mutation @entity60079 on its own is incapable of triggering clinical @entity1121 in most carriers. However, the presence of an additional risk factor for @entity1184 , particularly @entity101 , adds to the development of @entity1121 . Early diagnosis of risk factors is important for early treatment of @entity18964 mutation carriers and close monitoring should be guaranteed in this case. Our findings also suggest that the presence of @entity101 or another risk factor for @entity1184 should not be an exclusion criterion for genetic studies.

@entity1184 remodelling in cardiac regulatory myosin light chain ( XXXX ) founder mutation carriers.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity60079 :: ('c|SUB|G|64|A', 'DNAMutation') :: ['c.64G > A'] @entity101 :: ('MESH:D006973', 'Disease') :: ['hypertension'] @entity28 :: ('MESH:D009765', 'Disease') :: ['obesity'] @entity1184 :: ('MESH:D006984', 'Disease') :: ['hypertrophy'] @entity18964 :: ('4633', 'Gene') :: ['MYL2'] @entity63358 :: ('p|SUB|E|22|K', 'ProteinMutation') :: ['p.(Glu22Lys)'] @entity5707 :: ('MESH:D020257', 'Disease') :: ['ventricular hypertrophic remodelling'] @entity1121 :: ('MESH:D002312', 'Disease') :: ['HCM', 'hypertrophic cardiomyopathy']
@entity18964 :: (4633,Gene) :: ['MYL2']
