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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...

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Autores principales: Groeneweg, J. A., van der Heijden, J. F., Dooijes, D., van Veen, T. A. B., van Tintelen, J. P., Hauer, R. N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2014
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.
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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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