Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is often a life-threatening arrhythmia disorder with variable penetrance and expressivity. Little is known about the incidence or outcomes of CPVT patients with ≥2 variants. The phenotypes, genotypes and outcomes of patients in the Pediatr...

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Veröffentlicht in:	PloS one 2018-11, Vol.13 (11), p.e0205925-e0205925
Hauptverfasser:	Roston, Thomas M, Haji-Ghassemi, Omid, LaPage, Martin J, Batra, Anjan S, Bar-Cohen, Yaniv, Anderson, Chris, Lau, Yung R, Maginot, Kathleen, Gebauer, Roman A, Etheridge, Susan P, Potts, James E, Van Petegem, Filip, Sanatani, Shubhayan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Arrhythmia Binding sites Biochemistry Biology and Life Sciences Cardiac arrhythmia Cardiology Cardiomyopathy Child Child, Preschool Children Classification Criteria Departments Electrophysiology Female Gene mapping Genes Genetic counseling Genetic diversity Genetic Predisposition to Disease Genetic screening Genetic variance Genetics Genotypes Heart Hospitals Humans Infant, Newborn Kinases Long QT syndrome Male Mapping Medicine Medicine and Health Sciences Molecular biology Mutation Myocardium - pathology Pathogenicity Pathogens Patients Pediatrics Phenotypes Physical Sciences Protein Domains Registries Ryanodine Receptor Calcium Release Channel - chemistry Ryanodine Receptor Calcium Release Channel - genetics Ryanodine receptors Tachycardia Tachycardia, Ventricular - genetics Tachycardia, Ventricular - therapy Three dimensional models Treatment Outcome Ventricle
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