A De Novo Novel Cardiac Ryanodine Mutation (Ser4155Tyr) Associated with Catecholaminergic Polymorphic Ventricular Tachycardia

We describe the case of a 14‐year‐old girl with a history of syncopal episodes triggered by stress or exercise. Catecholaminergic polymorphic ventricular tachycardia was diagnosed with the aid of an implantable loop recorder. The genetic testing of the patient and her family revealed a de novo novel...

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Bibliographic Details
Published in:Ann Noninvasive Electrocardiol
Main Authors: Mantziari, Lilian, Vassilikos, Vassilios, Anastasakis, Aris, Kotsaka, Xanthippi, Paraskevaidis, Stelios, Styliadis, Ioannis H, Luria, David
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2013
Subjects:
Hereditary Arrhythmia Corner
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6932309/
https://ncbi.nlm.nih.gov/pubmed/24147812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/anec.12089
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