Non-ventricular, clinical, and functional features of the RyR2R420Q mutation causing catecholaminergic polymorphic ventricular tachycardia
D Domingo, P Neco, E Fernandez-Pons… - Revista Española de …, 2015 - Elsevier
Introduction and objectives Catecholaminergic polymorphic ventricular tachycardia is a
malignant disease, due to mutations in proteins controlling Ca 2+ homeostasis. While the
phenotype is characterized by polymorphic ventricular arrhythmias under stress,
supraventricular arrhythmias may occur and are not fully characterized. Methods Twenty-five
relatives from a Spanish family with several sudden deaths were evaluated with
electrocardiogram, exercise testing, and optional epinephrine challenge. Selective RyR2 …
malignant disease, due to mutations in proteins controlling Ca 2+ homeostasis. While the
phenotype is characterized by polymorphic ventricular arrhythmias under stress,
supraventricular arrhythmias may occur and are not fully characterized. Methods Twenty-five
relatives from a Spanish family with several sudden deaths were evaluated with
electrocardiogram, exercise testing, and optional epinephrine challenge. Selective RyR2 …
