Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation

M Koponen, A Marjamaa, AM Tuiskula, M Viitasalo… - Plos one, 2020 - journals.plos.org
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe
inherited arrhythmic disease associated with a risk of syncope and sudden cardiac death …

Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: Disease penetrance and expression in cardiac ryanodine receptor mutation–carrying …

C van der Werf, I Nederend, N Hofman… - Circulation …, 2012 - Am Heart Assoc
Background—Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmia syndrome associated with mutations in the cardiac ryanodine receptor gene …

Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations

M Yamazoe, T Furukawa - Circulation Journal, 2016 - jstage.jst.go.jp
1893 Prognosis of CPVT Patients With RYR2 Mutations ate treatment are well understood,
data for risk stratification are lacking, 5 particularly for identifying those CPVT patients with a …

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

F Wangüemert, CB Calero, C Pérez, O Campuzano… - Heart Rhythm, 2015 - Elsevier
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-
diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals …

Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations

AK Broendberg, JC Nielsen, J Bjerre, LN Pedersen… - Heart, 2017 - heart.bmj.com
Objective The aim of this study was to characterise disease penetrance, course of disease
and use of antiarrhythmic medication and implantable cardioverter-defibrillator (ICD) therapy …

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular …

M Tung, F Van Petegem, S Lauson… - … Genetics & Genomic …, 2020 - Wiley Online Library
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare
inherited arrhythmia syndrome characterized by adrenergically driven ventricular arrhythmia …

Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia. A systematic review …

H Beqaj, L Sittenfeld, A Chang, M Miotto, H Dridi… - medRxiv, 2024 - medrxiv.org
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare
inherited arrhythmia caused by mutations in the ryanodine receptor type 2 (RyR2) …

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

AV Postma, I Denjoy, J Kamblock, M Alders… - Journal of medical …, 2005 - jmg.bmj.com
Background: The aim of the study was to assess underlying genetic cause (s), clinical
features, and response to therapy in catecholaminergic polymorphic ventricular tachycardia …

A case report of familial catecholaminergic polymorphic ventricular tachycardia with a novel mutation in the ryanodine receptor 2

Y Shoji, S Hayashida, H Masuda… - … Heart Journal-Case …, 2024 - academic.oup.com
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is suspected by
clinical characteristics involving fatal arrhythmic events in childhood and adolescence. On …

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations–Long-Term Prognosis After Initiation …

H Kawata, S Ohno, T Aiba, H Sakaguchi… - Circulation …, 2016 - jstage.jst.go.jp
Background: The long-term prognosis of cardiac ryanodine receptor (RyR2) positive
catecholaminergic polymorphic ventricular tachycardia (CPVT) patients after initiation of …