Document Detail

Arrhythmogenic Right Ventricular Cardiomyopathy: The Challenge of Genetic Interpretation in Clinically Suspected Cases.
MedLine Citation:
PMID:  23147450     Owner:  NLM     Status:  Publisher    
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.
Aris Anastasakis; Apostolos-Ilias Vouliotis; Nikos Protonotarios; Christodoulos Stefanadis
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-07
Journal Detail:
Title:  Cardiology     Volume:  123     ISSN:  1421-9751     ISO Abbreviation:  Cardiology     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  1266406     Medline TA:  Cardiology     Country:  -    
Other Details:
Languages:  ENG     Pagination:  190-194     Citation Subset:  -    
Copyright Information:
Copyright © 2012 S. Karger AG, Basel.
Unit of Inherited Cardiovascular Diseases, 1st Department of Cardiology, Athens University Medical School, Athens, Greece.
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