Article
Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.
Molecular genetics & genomic medicine - 1 Nov 2017
Josephs Katherine, Patel Kunjan, Janson Christopher M, Montagna Cristina, McDonald Thomas V
Abstract excerpt
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal inherited cardiac disorder characterized by episodic ventricular tachycardia during adrenergic stimulation. It is associated with significant morbidity and mortality. Knowledge of the underlying genetic cause, pathogenesis, and the natural history of the disease remains incomplete. Approximately 50% of CPVT cases are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.