Article
Low clinical penetrance in causal mutation carriers for cardiac channelopathies.
Revista espanola de cardiologia (English ed.) - 1 Apr 2013
Jiménez-Jáimez Juan, Álvarez Miguel, Algarra María, Macías Ruíz Rosa, Peñas Rocío, Valverde Francisca, Tortajada Gustavo, Lorente Jose Antonio, Melgares Rafael, Tercedor Luis
Abstract excerpt
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...
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