| Arrhythmogenic Right Ventricular Cardiomyopathy: The Challenge of Genetic Interpretation in Clinically Suspected Cases. | |
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MedLine Citation:
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PMID: 23147450 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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This is the case of a 43-year-old Caucasian man with frequent episodes of paroxysmal atrial fibrillation (AF) and normal resting electrocardiogram (ECG), who fulfilled two minor diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC): late potentials by signal-averaged ECG and regional right ventricular outflow tract (RVOT) dyskinesia with mildly dilated RVOT end-diastolic diameter. Genetic test results revealed a disease-associated missense mutation in DSC2 (p.E102K), adding a major diagnostic criterion according to recently published modified Task Force Criteria. However, 2 years after successful ablative therapy for AF, the patient remains completely asymptomatic, without any clinical signs of ARVC. Both ventricular and supraventricular arrhythmias had vanished after AF ablation. Our patient mainly suffered AF without significant ventricular arrhythmias, a very uncommon clinical presentation of ARVC. |
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Authors:
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Aris Anastasakis; Apostolos-Ilias Vouliotis; Nikos Protonotarios; Christodoulos Stefanadis |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-11-07 |
Journal Detail:
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Title: Cardiology Volume: 123 ISSN: 1421-9751 ISO Abbreviation: Cardiology Publication Date: 2012 Nov |
Date Detail:
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Created Date: 2012-11-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 1266406 Medline TA: Cardiology Country: - |
Other Details:
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Languages: ENG Pagination: 190-194 Citation Subset: - |
Copyright Information:
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Copyright © 2012 S. Karger AG, Basel. |
Affiliation:
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Unit of Inherited Cardiovascular Diseases, 1st Department of Cardiology, Athens University Medical School, Athens, Greece. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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