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Low clinical penetrance in causal mutation carriers for cardiac channelopathies.
MedLine Citation:
PMID:  23265794     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
INTRODUCTION AND OBJECTIVES: Cardiac channelopathies are genetic alterations that can cause sudden death. Long QT syndrome and Brugada syndrome are 2 such conditions. Both are diagnosed according to previously published criteria. Our objective was to determine the sensitivity of these criteria in a consecutive series of patients carrying the mutations that cause them.
METHODS: We enrolled 15 families and 31 causal mutation carriers with a high pathogenic probability of having long QT syndrome and Brugada syndrome. We conducted clinical and electrocardiographic studies to analyze the extent to which these patients fulfilled the diagnostic criteria. Statistical analysis was with SPSS 17.0.
RESULTS: Some 48.3% of the subjects met the criteria indicating a high probability of long QT syndrome or Brugada syndrome. Among those with the mutation for long QT syndrome, only 10 out of 21 had a Schwartz index score≥4. Both the median Schwartz score and the cQT interval were lower in relatives than in probands. Of those with the mutation for Brugada syndrome, 60% failed to meet current diagnostic criteria, which were more frequently fulfilled in relatives. Pharmacological tests with epinephrine and flecainide helped establish the diagnosis in 2 mutation carriers with negative phenotype.
CONCLUSIONS: Current diagnostic criteria for long QT syndrome and Brugada syndrome had low sensitivity in our sample of genetic carriers. Genetic tests supported by pharmacological tests can increase diagnostic sensitivity, especially in asymptomatic relatives. Full English text available from:www.revespcardiol.org.
Authors:
Juan Jiménez-Jáimez; Miguel Alvarez; María Algarra; Rosa Macías Ruíz; Rocío Peñas; Francisca Valverde; Gustavo Tortajada; Jose Antonio Lorente; Rafael Melgares; Luis Tercedor
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Publication Detail:
Type:  Journal Article     Date:  2012-12-20
Journal Detail:
Title:  Revista española de cardiología (English ed.)     Volume:  66     ISSN:  1885-5857     ISO Abbreviation:  Rev Esp Cardiol (Engl Ed)     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-26     Completed Date:  2013-07-25     Revised Date:  2014-09-16    
Medline Journal Info:
Nlm Unique ID:  101587954     Medline TA:  Rev Esp Cardiol (Engl Ed)     Country:  Spain    
Other Details:
Languages:  eng; spa     Pagination:  275-81     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Sociedad Española de Cardiología. Publicado por Elsevier España. All rights reserved.
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