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Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management
- Source :
- Netherlands Heart Journal
- Publication Year :
- 2014
- Publisher :
- Bohn Stafleu van Loghum, 2014.
-
Abstract
- Arrhythmogenic cardiomyopathy (AC), also known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is a hereditary disease characterised by ventricular arrhythmias, right ventricular and/or left ventricular dysfunction, and fibrofatty replacement of cardiomyocytes. Patients with AC typically present between the second and the fourth decade of life with ventricular tachycardias. However, sudden cardiac death (SCD) may be the first manifestation, often at young age in the concealed stage of disease. AC is diagnosed by a set of clinically applicable criteria defined by an international Task Force. The current Task Force Criteria are the essential standard for a correct diagnosis in individuals suspected of AC. The genetic substrate for AC is predominantly identified in genes encoding desmosomal proteins. In a minority of patients a non-desmosomal mutation predisposes to the phenotype. Risk stratification in AC is imperfect at present. Genotype-phenotype correlation analysis may provide more insight into risk profiles of index patients and family members. In addition to symptomatic treatment, prevention of SCD is the most important therapeutic goal in AC. Therapeutic options in symptomatic patients include antiarrhythmic drugs, catheter ablation, and ICD implantation. Furthermore, patients with AC and also all pathogenic mutation carriers should be advised against practising competitive and endurance sports.
- Subjects :
- RIGHT-VENTRICULAR CARDIOMYOPATHY
medicine.medical_specialty
medicine.medical_treatment
PLAKOPHILIN-2
Arrhythmogenic cardiomyopathy
Cardiomyopathy
Catheter ablation
DYSPLASIA/CARDIOMYOPATHY
Disease
Review Article
030204 cardiovascular system & hematology
Ventricular tachycardia
Sudden death
Right ventricular cardiomyopathy
Sudden cardiac death
03 medical and health sciences
TASK-FORCE CRITERIA
0302 clinical medicine
SUDDEN-DEATH
FOUNDER MUTATIONS
Internal medicine
Diagnosis
medicine
Genetics
030212 general & internal medicine
CATHETER ABLATION
business.industry
Arrhythmogenic right ventricular dysplasia/cardiomyopathy
medicine.disease
Arrhythmogenic right ventricular dysplasia
CARDIOVERTER-DEFIBRILLATOR THERAPY
Cardiology
Cardiology and Cardiovascular Medicine
business
FOLLOW-UP
DESMOSOMAL MUTATION CARRIERS
Subjects
Details
- Language :
- English
- ISSN :
- 18766250 and 15685888
- Volume :
- 22
- Issue :
- 7-8
- Database :
- OpenAIRE
- Journal :
- Netherlands Heart Journal
- Accession number :
- edsair.doi.dedup.....fed260060cb8c573d8f3ec11a8b0829d