OBJECTIVES: In the molecular era, two types of phenotypic differences are recognized between electrocardiography (ECG) and echocardiography in @entity1121 ( @entity1121 ); ECG abnormalities in carriers without @entity4346 ( @entity4346 ), and normal ECG patterns in carriers with @entity4346 . The goal of this study was to evaluate the diagnostic value of ECG for detecting carriers without @entity4346 , and also to assess normal ECG patterns in carriers with @entity4346 from the genetic standpoint of @entity1121 . SETTING: A matched case-control study in a university hospital and general hospitals in Japan. @entity1 AND DESIGN: ECG and echocardiographic findings were analysed in 173 genotyped subjects (107 genetically affected, 66 unaffected) from families with disease-causing mutations in four genes. RESULTS: ECG abnormalities were found in 18 (54.5%) of 33 nonhypertrophic carriers, but only nine (13.6%) of 66 noncarriers (P < 0.001). For detecting nonhypertrophic carriers, @entity854 showed the highest accuracy amongst the three major ECG criteria. In contrast, normal ECG patterns were found in eight (10.8%) of 74 carriers with @entity4346 . The sensitivity of ECG for detecting carriers with @entity4346 in families with the cardiac myosin-binding protein C, @entity299 and cardiac troponin I gene mutations was 83%, 88% and 94% respectively. CONCLUSION: These findings suggest that ECG may have favourable diagnostic value even for detecting nonhypertrophic carriers. Furthermore, diagnostic value of ECG may differ according to the genes involved. Our data may contribute to interpretation of phenotypic differences between ECG and echocardiography from the viewpoint of molecular genetics of @entity1121 .

Phenotypic differences between electrocardiographic and echocardiographic determination of XXXX in genetically affected subjects.

@entity1 :: ('9606', 'Species') :: ['PATIENTS'] @entity854 :: ('MESH:D018376', 'Disease') :: ['ST-T abnormalities'] @entity4346 :: ('MESH:D017379', 'Disease') :: ['LVH', 'left ventricular hypertrophy'] @entity299 :: ('MESH:D006331', 'Disease') :: ['cardiac troponin T'] @entity1121 :: ('MESH:D002312', 'Disease') :: ['HCM', 'hypertrophic cardiomyopathy']
@entity1121 :: (MESH:D002312,Disease) :: ['hypertrophic cardiomyopathy']
