Article
Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.
Journal of cardiac failure - 1 Jun 2021
Cambon-Viala Marie, Gerard Hilla, Nguyen Karine, Richard Pascale, Ader Flavie, Pruny Jean-François, Donal Erwan, Eicher Jean-Christophe, Huttin Olivier, Selton-Suty Christine, Raud-Raynier Pascale, Jondeau Guillaume, Mansencal Nicolas, Sawka Caroline, Casalta Anne-Claire, Michel Nicolas, Donghi Valeria, Martel Hélène, Faivre Laurence, Charron Philippe, Habib Gilbert
Abstract excerpt
BACKGROUND: Few data exist concerning genotype-phenotype relationships in left ventricular noncompaction (LVNC). METHODS AND RESULTS: From a multicenter French Registry, we report the genetic and clinical spectrum of 95 patients with LVNC, and their genotype-phenotype relationship. Among the 95 LVNC, 45 had at least 1 mutation, including 14 cases of mutation in ion channel genes. In a complementary analysis...
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