Follow-Up with Exercise Test of Effort-Induced Ventricular Arrhythmias Linked to Ryanodine Receptor Type 2 Gene Mutations

The aim of this study was to assess exercise test results and efficacy of therapy with a β blocker (acebutolol) in ryanodine receptor type 2 (RyR2) mutation carriers with documented ventricular arrhythmias (VAs) and long-term follow-up. Twenty RyR2 mutation carriers belonging to 8 families and regul...

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Published in:The American journal of cardiology 2012-04, Vol.109 (7), p.1015-1019
Main Authors: Steriotis, Alexandros Klavdios, MD, PhD, Nava, Andrea, MD, Rampazzo, Alessandra, PhD, Basso, Cristina, MD, PhD, Thiene, Gaetano, MD, Daliento, Luciano, MD, Folino, Antonio Franco, MD, PhD, Rigato, Ilaria, MD, PhD, Mazzotti, Elisa, MD, PhD, Beffagna, Giorgia, PhD, Carturan, Elisa, PhD, Corrado, Domenico, MD, PhD, Bauce, Barbara, MD, PhD
Format: Article
Language:English
Subjects:
Acebutolol - therapeutic use
Adolescent
Adult
Anti-Arrhythmia Agents - therapeutic use
Arrhythmias and Conduction Disturbances
Beta blockers
Biological and medical sciences
Cardiac arrhythmia
Cardiac dysrhythmias
Cardiology. Vascular system
Cardiovascular
Cohort Studies
Death, Sudden, Cardiac - prevention & control
Drug therapy
Echocardiography
Electrocardiography
Exercise Test - adverse effects
Family
Female
Follow-Up Studies
Genetic Markers - genetics
Genetic Testing
Heart
Heterozygote
Humans
Male
Medical sciences
Mutation
Pedigree
Phenotype
Physical Exertion
Ryanodine Receptor Calcium Release Channel - genetics
Tachycardia, Ventricular - diagnosis
Tachycardia, Ventricular - drug therapy
Tachycardia, Ventricular - etiology
Tachycardia, Ventricular - genetics
Treatment Outcome
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Summary:The aim of this study was to assess exercise test results and efficacy of therapy with a β blocker (acebutolol) in ryanodine receptor type 2 (RyR2) mutation carriers with documented ventricular arrhythmias (VAs) and long-term follow-up. Twenty RyR2 mutation carriers belonging to 8 families and regularly followed at our center were analyzed using a study protocol involving electrocardiography, exercise tests off and on β-blocker therapy, 2-dimensional echocardiography, and signal-averaged electrocardiography. Off-therapy exercise testing triggered the onset of VAs at different heart rates (mean 132 ± 13 beats/min) with various patterns that worsened while exercising and disappeared immediately after stopping. The most severe VAs detected were nonsustained ventricular tachycardia in 35% and ventricular couplets in 35%. In the remaining subjects single ventricular premature beats were recorded. In 15% of patients single monomorphic ventricular premature beats were detected and identified to be linked to RyR2 mutations owing to the presence of sudden deaths of their family members and subsequent family screening. Acebutolol made the VAs disappear completely in 20% of subjects and decreased their complexity in 50%, whereas it did not change VAs appreciably in 30% of patients with less complex VAs. After 11 ± 8 years of follow-up 2 patients developed syncope. In conclusion, exercise testing was a fundamental tool for assessing the clinical phenotype and efficacy of therapy in RyR2 mutation carriers and therapy with acebutolol led in most subjects to a decreased complexity of the arrhythmic pattern or to complete suppression.
ISSN:0002-9149
1879-1913
DOI:10.1016/j.amjcard.2011.11.033