title: Identification of large families in early repolarization syndrome.
abstract: OBJECTIVE
  The aim of this study was to identify families affected by early repolarization syndrome (ERS) and to determine the mode of transmission of the disease.
  
  
  BACKGROUND
  Early repolarization (ER) has recently been linked to idiopathic ventricular fibrillation. Familial inheritance of the disease has been suggested but not demonstrated.
  
  
  METHODS
  We screened relatives of 4 families affected by ERS. ER was defined as a distinct J-wave in at least 2 consecutive leads and a 1-mm amplitude above baseline. The Valsalva maneuver was performed in affected and unaffected family members to decrease heart rate and thus increase or reveal an ER pattern.
  
  
  RESULTS
  Twenty-two sudden cardiac deaths occurred in the 4 families including 10 before 35 years of age. In the 4 families, the prevalence of ER was 56%, 34%, 61%, and 33% of, respectively, 30, 82, 29, and 30 screened relatives. In these families, transmission of an ER pattern is compatible with an autosomal dominant mode of inheritance. All probands were screened for genes identified in ERS, and no mutation was found. The Valsalva maneuver was performed in 80 relatives, resulting in increased J-wave amplitude for 17 of 20 affected patients and revealing an ER pattern in 17 relatives in whom 5 are obligate transmitters of an ER pattern.
  
  
  CONCLUSIONS
  ERS can be inherited through autosomal dominant transmission and should be considered a real inherited arrhythmia syndrome. Familial investigation can be facilitated by using the Valsalva maneuver to reveal the electrocardiographic pattern in family members. The prognosis value of this test remains to be assessed.
authors.affiliation: INSERM, UMR1087, L'Institut du Thorax, Nantes, France. jbgourraud@gmail.com
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Gourraud
authors.forename: Solena
authors.initials: S
authors.lastname: Le Scouarnec
authors.forename: Frederic
authors.initials: F
authors.lastname: Sacher
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Chatel
authors.forename: Nicolas
authors.initials: N
authors.lastname: Derval
authors.forename: Vincent
authors.initials: V
authors.lastname: Portero
authors.forename: Pascal
authors.initials: P
authors.lastname: Chavernac
authors.forename: Juan E
authors.initials: JE
authors.lastname: Sandoval
authors.forename: Philippe
authors.initials: P
authors.lastname: Mabo
authors.forename: Richard
authors.initials: R
authors.lastname: Redon
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Schott
authors.forename: Hervé
authors.initials: H
authors.lastname: Le Marec
authors.forename: Michel
authors.initials: M
authors.lastname: Haïssaguerre
authors.forename: Vincent
authors.initials: V
authors.lastname: Probst
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D004562:Electrocardiography; D005260:Female; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014636:Valsalva Maneuver; D055815:Young Adult