Document Detail


Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
MedLine Citation:
PMID:  14998624     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: We hypothesized that neonatal long QT syndrome (LQTS) with 2:1 atrioventricular block (AVB) could be related to HERG mutations. BACKGROUND: Early onset of LQTS is rare but carries a high risk of life-threatening events such as ventricular arrhythmias and conduction disorders. There are no data on possible gene specificity. METHODS: We analyzed the characteristics and outcomes of 23 neonate probands from our LQTS population. Samples of DNA were available in 18 cases. RESULTS: Long QT syndrome was diagnosed because of corrected QT interval (QTc) prolongation (mean QTc of 558 +/- 62 ms) and neonatal bradycardia attributable to sinus bradycardia (n = 8) or 2:1 AVB (n = 15). Symptoms included syncope (n = 2), torsades de pointes (n = 7), and hemodynamic failure (n = 6). Three infants with 2:1 AVB died during the first month of life. During the neonatal period, all living patients received beta-blockers (BB) and 13 had a combination of BB and permanent cardiac pacing. Under treatment, patients remained asymptomatic, with a mean follow-up of seven years. Mutations were identified in HERG (n = 8) and KCNQ1 (n = 8), and one child had three mutations (HERG, KCNQ1, and SCN5A). Conduction disorders were associated with LQT2, whereas sinus bradycardia was associated with LQT1. CONCLUSIONS: Two-to-one AVB seems preferentially associated with HERG mutations, either isolated or combined. Long QT syndrome with relative bradycardia attributable to 2:1 AVB has a poor prognosis during the first month of life. In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy.
Authors:
Jean-Marc Lupoglazoff; Isabelle Denjoy; Elisabeth Villain; Véronique Fressart; Françoise Simon; André Bozio; Myriam Berthet; Nawal Benammar; Bernard Hainque; Pascale Guicheney
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the American College of Cardiology     Volume:  43     ISSN:  0735-1097     ISO Abbreviation:  J. Am. Coll. Cardiol.     Publication Date:  2004 Mar 
Date Detail:
Created Date:  2004-03-04     Completed Date:  2004-04-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8301365     Medline TA:  J Am Coll Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  826-30     Citation Subset:  AIM; IM    
Affiliation:
Pediatric Cardiology, Necker-Enfants-Malades (AP/HP), Paris, France. jean=marc.lupoglazo@rdb.ap-hop-paris.fr
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MeSH Terms
Descriptor/Qualifier:
Bradycardia / genetics*
Cation Transport Proteins / genetics*
Ether-A-Go-Go Potassium Channels
Female
Follow-Up Studies
Humans
Infant, Newborn
KCNQ Potassium Channels
KCNQ1 Potassium Channel
Long QT Syndrome / genetics*
Male
Mutation*
Potassium Channels / genetics*
Potassium Channels, Voltage-Gated*
Chemical
Reg. No./Substance:
0/Cation Transport Proteins; 0/Ether-A-Go-Go Potassium Channels; 0/KCNH6 protein, human; 0/KCNQ Potassium Channels; 0/KCNQ1 Potassium Channel; 0/KCNQ1 protein, human; 0/Potassium Channels; 0/Potassium Channels, Voltage-Gated

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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