Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
Arq. bras. cardiol; 108 (1), 2017
Abstract Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by geneti...
Aleteo Atrial/genética, Aleteo Atrial/fisiopatología, Síndrome de Brugada/genética, Síndrome de Brugada/fisiopatología, Electrocardiografía, Predisposición Genética a la Enfermedad, Heterocigoto, Mutación, Canal de Sodio Activado por Voltaje NAV1.5/genética, Linaje, Fenotipo, Índice de Severidad de la Enfermedad