The standard electrocardiogram as a screening test for XXXX .

@entity1 @entity1121 @entity1184
Phenotypic heterogeneity in @entity1121 ( @entity1121 ) makes definitive diagnosis difficult, particularly during family screening. We studied the electrocardiogram (ECG) as a potential initial screening test in @entity1 with @entity1121 . Using accepted diagnostic criteria, we examined the ECGs and echocardiograms of 159 @entity1 with a confirmed clinical or genetic diagnosis of @entity1121 . An abnormal ECG was found in 154 @entity1 (97%) while only 146 (92%) showed an abnormal echocardiogram. Of the former, 9 @entity1 (6%) had normal echocardiograms and had been diagnosed on the basis of identification of a mutation in the beta myosin heavy chain gene (n = 8) or obligate carrier status (n = 1). Only 1 of these 9 @entity1 was under age 20, the time at which @entity1184 is normally expressed on the echocardiogram. The remaining 5 @entity1 (3%) without ECG abnormality consisted of 1 @entity1 with an echocardiogram clearly diagnostic of @entity1121 and 4 clinically normal @entity1 (aged 13, 24, 29, and 33 years) with normal echocardiograms who had been diagnosed by mutation identification (n = 3) or obligate carrier status (n = 1). Thus only these latter 4 @entity1 (3%) would not have been diagnosed as having @entity1121 based on an abnormal ECG and/or abnormal echocardiogram. Screening relatives for @entity1121 by ECG criteria alone detects all those whom an echocardiogram will diagnose. While echocardiography aids in the specificity of @entity1121 diagnosis, the ECG, within the context of a family with a proven case of @entity1121 , is a more sensitive marker of the disease. It is therefore both a cost-effective and useful tool for screening those to proceed to echocardiography.
