• Juan Jiménez-Jáimez, Miguel Álvarez, María Algarra, Rosa Macías Ruíz, Rocío Peñas, Francisca Valverde, Gustavo Tortajada, Jose Antonio Lorente, Rafael Melgares, and Luis Tercedor.
• Servicio de Cardiología, Hospital Universitario Virgen de las Nieves, Granada, Spain. Electronic address: jimenez.jaimez@gmail.com.
• Rev Esp Cardiol (Engl Ed). 2013 Apr 1; 66 (4): 275-81.

Introduction And ObjectivesCardiac 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.MethodsWe 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.ResultsSome 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.ConclusionsCurrent 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.Copyright © 2012 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

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