title: Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children.
abstract: OBJECTIVE
  The aim of the study was to evaluate electrocardiography and echocardiography in the diagnosis of familial hypertrophic cardiomyopathy in children, using the genetic status as the criterion of reference.
  
  
  RESULTS
  We analysed 35 children (<18 years) from 13 families with identified mutations: 16 were genetically affected (11.2 +/- 3 years), 19 unaffected (13.1 +/- 2.8 years). Conventional major diagnostic criteria were: left ventricular wall thickness >95% confidence interval on the echocardiogram; abnormal Q waves, left ventricular hypertrophy (voltage >95th percentile), or marked ST-T changes on the electrocardiogram. Twenty-two minor electrocardiographic and echocardiographic criteria were also analysed. Using major criteria, the specificity of the electrocardiogram and echocardiogram was excellent (100% for both) but sensitivity was particularly low (38% and 50% respectively). However, when four relevant additional criteria (QRS axis, left atrium dimension, intraventricular septum/posterior wall ratio, E/A wave ratio) were taken into account, sensitivity increased to 88% and specificity remained high (95%).
  
  
  CONCLUSIONS
  (1) Familial hypertrophic cardiomyopathy was diagnosed in only approximately 50% of genetically affected children by conventional electrocardiographic and/or echocardiographic criteria. (2) Relevant additional diagnostic criteria were selected so that nearly all children considered as healthy carriers of a mutation (based on conventional criteria) could be identified with excellent specificity.
authors.affiliation: Service de Cardiologie, Hôpital Pitié-Salpêtrière, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Charron
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: M
authors.initials: M
authors.lastname: Desnos
authors.forename: J B
authors.initials: JB
authors.lastname: Bouhour
authors.forename: R
authors.initials: R
authors.lastname: Isnard
authors.forename: A
authors.initials: A
authors.lastname: Hagege
authors.forename: L
authors.initials: L
authors.lastname: Carrier
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: F
authors.initials: F
authors.lastname: Tesson
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: B
authors.initials: B
authors.lastname: Hainque
authors.forename: K
authors.initials: K
authors.lastname: Schwartz
authors.forename: M
authors.initials: M
authors.lastname: Komajda
mesh_terms: D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity; D018709:Statistics, Nonparametric