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Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management
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 A...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bohn Stafleu van Loghum
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099433/ https://www.ncbi.nlm.nih.gov/pubmed/24817548 http://dx.doi.org/10.1007/s12471-014-0563-7 |
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author | Groeneweg, J. A. van der Heijden, J. F. Dooijes, D. van Veen, T. A. B. van Tintelen, J. P. Hauer, R. N. |
author_facet | Groeneweg, J. A. van der Heijden, J. F. Dooijes, D. van Veen, T. A. B. van Tintelen, J. P. Hauer, R. N. |
author_sort | Groeneweg, J. A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4099433 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Bohn Stafleu van Loghum |
record_format | MEDLINE/PubMed |
spelling | pubmed-40994332014-07-18 Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management Groeneweg, J. A. van der Heijden, J. F. Dooijes, D. van Veen, T. A. B. van Tintelen, J. P. Hauer, R. N. Neth Heart J Review Article 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. Bohn Stafleu van Loghum 2014-05-10 2014-08 /pmc/articles/PMC4099433/ /pubmed/24817548 http://dx.doi.org/10.1007/s12471-014-0563-7 Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. |
spellingShingle | Review Article Groeneweg, J. A. van der Heijden, J. F. Dooijes, D. van Veen, T. A. B. van Tintelen, J. P. Hauer, R. N. Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
title | Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
title_full | Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
title_fullStr | Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
title_full_unstemmed | Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
title_short | Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
title_sort | arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099433/ https://www.ncbi.nlm.nih.gov/pubmed/24817548 http://dx.doi.org/10.1007/s12471-014-0563-7 |
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