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Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy.
- Source :
-
Circulation. Arrhythmia and electrophysiology [Circ Arrhythm Electrophysiol] 2016 Mar; Vol. 9 (3). - Publication Year :
- 2016
-
Abstract
- Background: We previously showed a survival benefit of the implantable cardioverter defibrillator (ICD) in males with arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. We present long-term data (median follow-up 8.5 years) after ICD for primary (PP) and secondary prophylaxis in males and females, determine whether ICD discharges for ventricular tachycardia/ventricular fibrillation were equivalent to an aborted death, and assess relevant clinical predictors.<br />Methods and Results: We studied 24 multiplex families segregating an autosomal dominant p.S358L mutation in TMEM43. We compared survival in 148 mutation carriers with an ICD to 148 controls matched for age, sex, disease status, and family. Of 80 male mutation carriers with ICDs (median age at implantation 31 years), 61 (76%) were for PP; of 68 females (median age at implantation 43 years), 66 (97%) were for PP. In males, irrespective of indication, survival was better in the ICD groups compared with control groups (relative risk 9.3 [95% confidence interval 3.3-26] for PP and 9.7 [95% confidence interval 3.2-29.6] for secondary prophylaxis). For PP females, the relative risk was 3.6 (95% confidence interval 1.3-9.5). ICD discharge-free survival for ventricular tachycardia/ventricular fibrillation ≥ 240 beats per minute was equivalent to the control survival rate. Ectopy (≥ 1000 premature ventricular complexes/24 hours) was the only independent clinical predictor of ICD discharge in males, and no predictor was identified in females.<br />Conclusions: ICD therapy is indicated for PP in postpubertal males and in females ≥ 30 years with the p.S358L TMEM43 mutation. ICD termination of rapid ventricular tachycardia/ventricular fibrillation can reasonably be considered an aborted death.<br /> (© 2016 American Heart Association, Inc.)
- Subjects :
- Adult
Age Factors
Arrhythmogenic Right Ventricular Dysplasia diagnosis
Arrhythmogenic Right Ventricular Dysplasia genetics
Arrhythmogenic Right Ventricular Dysplasia mortality
Arrhythmogenic Right Ventricular Dysplasia physiopathology
DNA Mutational Analysis
Death, Sudden, Cardiac etiology
Electrocardiography
Female
Genetic Predisposition to Disease
Heredity
Humans
Kaplan-Meier Estimate
Male
Middle Aged
Patient Selection
Pedigree
Phenotype
Proportional Hazards Models
Retrospective Studies
Risk Factors
Sex Factors
Tachycardia, Ventricular diagnosis
Tachycardia, Ventricular genetics
Tachycardia, Ventricular mortality
Tachycardia, Ventricular physiopathology
Time Factors
Treatment Outcome
Ventricular Fibrillation diagnosis
Ventricular Fibrillation genetics
Ventricular Fibrillation mortality
Ventricular Fibrillation physiopathology
Arrhythmogenic Right Ventricular Dysplasia therapy
Death, Sudden, Cardiac prevention & control
Defibrillators, Implantable
Electric Countershock instrumentation
Membrane Proteins genetics
Mutation
Primary Prevention instrumentation
Secondary Prevention instrumentation
Tachycardia, Ventricular therapy
Ventricular Fibrillation therapy
Subjects
Details
- Language :
- English
- ISSN :
- 1941-3084
- Volume :
- 9
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Circulation. Arrhythmia and electrophysiology
- Publication Type :
- Academic Journal
- Accession number :
- 26966288
- Full Text :
- https://doi.org/10.1161/CIRCEP.115.003589