Document Detail

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature.
MedLine Citation:
PMID:  22426942     Owner:  NLM     Status:  Publisher    
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is heritable cardiomyopathy that may result in arrhythmia, heart failure, and sudden cardiac death (SCD). Approximately 50-60% of ARVD/C patient will have an identifiable pathogenic mutation in one of seven genes associated with the cardiac desmosome and other cardiac pathways. Genetic counseling remains complicated, however, because of great variable expressivity and reduced penetrance, even within members of the same family. Diagnosis of ARVD/C is made by meeting a set of major and minor diagnostic criteria, revised in 2010. Despite this, misdiagnosis is a chronic problem. Management of ARVD/C is aimed at reducing risk of sudden death/arrhythmias and preventing progression of disease. Strenuous physical activity is increasingly recognized as a significant risk factor in disease presentation and progression and is an important factor in preventative management. Anticipation of the psychosocial implications of this disease is also an important aspect of patient management. This review presents an overview of the clinical diagnosis, management, as well as disease mechanism and genetics of this rare cardiomyopathy.
Brittney Murray
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-17
Journal Detail:
Title:  Journal of genetic counseling     Volume:  -     ISSN:  1573-3599     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206865     Medline TA:  J Genet Couns     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Division of Cardiology, ARVD/C Program, Johns Hopkins Hospital, 600 N. Wolfe St. Carnegie 530, Baltimore, MD, 21287, USA,
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