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

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Koponen , M , Marjamaa , A , Tuiskula , A M , Viitasalo , M , Nallinmaa-Luoto , T , Leinonen , J T , Widen , E , Toivonen , L , Kontula , K & Swan , H 2020 , ' Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation ' , PLoS One , vol. 15 , no. 12 , 0243649 . https://doi.org/10.1371/journal.pone.0243649

Title: Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation
Author: Koponen, Mikael; Marjamaa, Annukka; Tuiskula, Annukka M.; Viitasalo, Matti; Nallinmaa-Luoto, Terhi; Leinonen, Jaakko T.; Widen, Elisabeth; Toivonen, Lauri; Kontula, Kimmo; Swan, Heikki
Contributor: University of Helsinki, University of Helsinki
University of Helsinki, HUS Heart and Lung Center
University of Helsinki, HUSLAB
University of Helsinki, HUS Heart and Lung Center
University of Helsinki, Genomics of Sex Differences
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, HUS Heart and Lung Center
University of Helsinki, HUS Internal Medicine and Rehabilitation
University of Helsinki, University of Helsinki
Date: 2020-12-14
Language: eng
Number of pages: 12
Belongs to series: PLoS One
ISSN: 1932-6203
URI: http://hdl.handle.net/10138/324591
Abstract: Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmic disease associated with a risk of syncope and sudden cardiac death (SCD). Aims We aimed at identifying RYR2 P2328S founder mutation carriers and describing the clinical course associated with the mutation. Methods The study population was drawn from the Finnish Inherited Cardiac Disorder Research Registry, and from the present genealogical study. Kaplan-Meier graphs, log-rank test and Cox regression model were used to evaluate the clinical course. Results Genealogical study revealed a common ancestor couple living in the late 17(th) century. A total of 1837 living descendants were tested for RYR2 P2328S mutation unveiling 62 mutation carriers aged mean 3923 years old. No arrhythmic deaths were documented among genotyped subjects, but 11 SCDs were detected in non-genotyped family members since 1970. Three genotyped patients (5%) suffered an aborted cardiac arrest (ACA), and 15 (25%) had a syncope triggered by exercise or stress. Rate of cardiac events was higher among patients who in exercise stress test showed a maximum rate of premature ventricular contractions >30/min (68% vs 17%, p-blocker medication. Conclusions Previously undiagnosed CPVT patients may be identified by well-conducted genealogical studies. The RYR2 P2328S mutation causes a potentially severe phenotype, but its expression is variable, thus calling for additional studies on modifying factors.
Subject: SUDDEN CARDIAC DEATH
MOLECULAR CHARACTERIZATION
BETA-BLOCKERS
ARRHYTHMIAS
GENE
ASSOCIATION
FLECAINIDE
CHILDREN
THERAPY
EVENTS
3121 General medicine, internal medicine and other clinical medicine
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