title: Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathy.
abstract: OBJECTIVE
  To study the diagnostic value of a new 2D left ventricle hypertrophy (2D LVH) score in families with hypertrophic cardiomyopathy (HCM) in comparison with the conventional maximal wall thickness (MWT) measurement (>13 mm in adults), which is limited by a low sensitivity in relatives.
  
  
  RESULTS
  The study was performed in 237 adults from genotyped families with HCM. Population A (derivation sample) comprised 109 adults and population B (validation sample) comprised 128 adults. MWT and 2D LVH scores (sum of thicknesses of four segments) were determined by echocardiography. Genotyping was the gold standard for diagnosis. In population A, a theoretical value for LVH score was determined in the healthy population by a multiple linear regression model including age, sex, and body surface area. An abnormal cut-off value was defined as an LVH score above a maximum theoretical value according to receiver operating characteristic analysis. Sensitivity and specificity were, respectively, 73 and 96% for 2D LVH score and 62.5 and 100% for MWT. Improvement of sensitivity was particularly important in adults <50 years of age (69 vs. 54%, respectively, P<0.04). These results were validated in population B: sensitivity and specificity of LVH score were, respectively, 75 and 96% in this sample and 67 and 97%, in the subgroup <50 years. In the latter, sensitivity of LVH score increased when compared with that of MWT (67 vs. 53%, P<0.03).
  
  
  CONCLUSIONS
  The LVH score has a higher diagnostic value for HCM than the conventional criterion of MWT, particularly in young adults. This echographic parameter may be proposed as an alternative diagnostic criterion for familial screening.
authors.affiliation: Service de Cardiologie, Hôpital Ambroise Paré, AP-HP, 9 Avenue Charles De Gaulle, Boulogne, France.
authors.forename: Jean F
authors.initials: JF
authors.lastname: Forissier
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Sophie
authors.initials: S
authors.lastname: Tezenas du Montcel
authors.forename: Albert
authors.initials: A
authors.lastname: Hagège
authors.forename: Richard
authors.initials: R
authors.lastname: Isnard
authors.forename: Lucie
authors.initials: L
authors.lastname: Carrier
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Michel
authors.initials: M
authors.lastname: Desnos
authors.forename: Jean B
authors.initials: JB
authors.lastname: Bouhour
authors.forename: Ketty
authors.initials: K
authors.lastname: Schwartz
authors.forename: Michel
authors.initials: M
authors.lastname: Komajda
authors.forename: Olivier
authors.initials: O
authors.lastname: Dubourg
mesh_terms: D000328:Adult; D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis*; D004452:Echocardiography; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D012680:Sensitivity and Specificity