Document Detail

Identification of large families in early repolarization syndrome.
MedLine Citation:
PMID:  23273290     Owner:  NLM     Status:  In-Data-Review    
OBJECTIVES: 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.
Jean-Baptiste Gourraud; Solena Le Scouarnec; Frederic Sacher; Stéphanie Chatel; Nicolas Derval; Vincent Portero; Pascal Chavernac; Juan E Sandoval; Philippe Mabo; Richard Redon; Jean-Jacques Schott; Hervé Le Marec; Michel Haïssaguerre; Vincent Probst
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the American College of Cardiology     Volume:  61     ISSN:  1558-3597     ISO Abbreviation:  J. Am. Coll. Cardiol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2012-12-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8301365     Medline TA:  J Am Coll Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  164-72     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2013 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
INSERM, UMR1087, L'Institut du Thorax, Nantes, France; CNRS, UMR 6291, Nantes, France; Université de Nantes, Nantes, France; CHU de Nantes, L'Institut du Thorax, Nantes, France. Electronic address:
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