Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: Leaky RyR2 channels under non-stress conditions
Ryanodine Receptor Calcium Release Channel
The RyR2-H29D mutation is associated with a clinical phenotype of short-coupled PMVT at rest. In contrast to catecholaminergic PMVT-associated RyR2 mutations, RyR2-H29D causes a leaky channel at diastolic levels of Ca(2+) under non-stress conditions. Leaky RyR2 may be an under-recognized mechanism for idiopathic PMVT at rest.