Document Detail


High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening.
MedLine Citation:
PMID:  20106799     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIM: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease predisposing to life-threatening arrhythmias. We aimed to determine the prevalence of arrhythmias and efficacy of beta-blocker treatment in mutation-positive family members diagnosed by cascade genetic screening. METHODS AND RESULTS: Relatives of six unrelated CPVT patients were tested for the relevant mutation in the ryanodine receptor-2 gene. Mutation carriers underwent an exercise test at inclusion time and 3 months after the initiation of beta-blocker therapy in the highest tolerable dose. The occurrence of ventricular premature beats, couplets, and non-sustained ventricular arrhythmias (nsVT) were recorded in addition to the heart rate at which they occurred. Thirty family members were mutation carriers and were followed for 22 (13-288) months. Previous undiagnosed CPVT-related symptoms were reported by eight subjects. Exercise test induced ventricular arrhythmias in 23 of the 30 mutation carriers. On beta-blocker treatment, exercise-induced arrhythmias occurred at a lower heart rate (117 +/- 17 vs. 135 +/- 34 beats/min, P = 0.02) but at similar workload (P = 0.78). Beta-blocker treatment suppressed the occurrence of exercise-induced nsVT in three of the four patients, while less severe arrhythmias were unchanged. One patient died during follow-up. CONCLUSION: Exercise test revealed a high prevalence of arrhythmias in CPVT mutation carriers diagnosed by cascade genetic screening. beta-Blocker therapy appeared to suppress the most severe exercise-induced arrhythmias, while less severe arrhythmias occurred at a lower heart rate.
Authors:
Kristina Hermann Haugaa; Ida Skrinde Leren; Knut Erik Berge; J?rn Bathen; Jan P?l Loennechen; Ole-Gunnar Anfinsen; Andreas Fr?h; Thor Edvardsen; Erik Kongsg?rd; Trond P Leren; Jan P Amlie
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-01-26
Journal Detail:
Title:  Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology     Volume:  12     ISSN:  1532-2092     ISO Abbreviation:  Europace     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-02-22     Completed Date:  2010-05-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100883649     Medline TA:  Europace     Country:  England    
Other Details:
Languages:  eng     Pagination:  417-23     Citation Subset:  IM    
Affiliation:
Department of Cardiology, Oslo University Hospital Rikshospitalet, Oslo 0027, Norway. kristina.haugaa@rr-research.no
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adrenergic beta-Antagonists / therapeutic use
Adult
Aged
Catecholamines / genetics*
Child
Defibrillators, Implantable
Electrocardiography
Exercise*
Exercise Test
Family Health
Female
Genetic Testing
Heart Rate
Humans
Male
Middle Aged
Point Mutation
Prevalence
Ryanodine Receptor Calcium Release Channel / genetics*
Tachycardia, Ventricular / drug therapy,  epidemiology*,  genetics*
Young Adult
Chemical
Reg. No./Substance:
0/Adrenergic beta-Antagonists; 0/Catecholamines; 0/Ryanodine Receptor Calcium Release Channel

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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