Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia syndrome characterized by adrenergically driven ventricular arrhythmia predominantly caused by pathogenic variants in the cardiac ryanodine receptor (RyR2). We describe a novel variant associated...

Descripción completa

Detalles Bibliográficos
Autores principales: Tung, Matthew, Van Petegem, Filip, Lauson, Samantha, Collier, Ashley, Hodgkinson, Kathy, Fernandez, Bridget, Connors, Sean, Leather, Rick, Sanatani, Shubhayan, Arbour, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196448/
https://www.ncbi.nlm.nih.gov/pubmed/31994352
http://dx.doi.org/10.1002/mgg3.1151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196448/
https://www.ncbi.nlm.nih.gov/pubmed/31994352
http://dx.doi.org/10.1002/mgg3.1151

Ejemplares similares