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Identification of large families in early repolarization syndrome.

Abstract：

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.

journal_name

J Am Coll Cardiol

journal_title

Journal of the American College of Cardiology

authors

Gourraud JB,Le Scouarnec S,Sacher F,Chatel S,Derval N,Portero V,Chavernac P,Sandoval JE,Mabo P,Redon R,Schott JJ,Le Marec H,Haïssaguerre M,Probst V

doi

10.1016/j.jacc.2012.09.040

subject

Has Abstract

pub_date

2013-01-15 00:00:00

pages

164-72

issue

2

eissn

0735-1097

issn

1558-3597

pii

S0735-1097(12)05306-5

journal_volume

61

pub_type

杂志文章

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