Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.
Authors
Sen-Chowdhry, SrijitaSyrris, Petros
Ward, Deirdre
Asimaki, Angeliki
Sevdalis, Elias
McKenna, William J
Affiliation
The Heart Hospital, University College London, United Kingdom.Issue Date
2007-04-03MeSH
AdolescentAdult
Aged
Arrhythmogenic Right Ventricular Dysplasia
Child
Codon, Nonsense
Cohort Studies
DNA Mutational Analysis
Desmocollins
Desmoglein 2
Desmoplakins
Desmosomes
Disease Progression
Electrocardiography
Female
Genetic Heterogeneity
Genotype
Heart Function Tests
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Mutation, Missense
Myocardium
Phenotype
Physical Endurance
Plakophilins
Sports
Metadata
Show full item recordCitation
Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. 2007, 115 (13):1710-20 CirculationPublisher
CirculationJournal
CirculationDOI
10.1161/CIRCULATIONAHA.106.660241PubMed ID
17372169Abstract
According to clinical-pathological correlation studies, the natural history of arrhythmogenic right ventricular dysplasia/cardiomyopathy is purported to progress from localized to global right ventricular dysfunction, followed by left ventricular (LV) involvement and biventricular pump failure. The inevitable focus on sudden death victims and transplant recipients may, however, have created a skewed perspective of a genetic disease. We hypothesized that unbiased representation of the spectrum of disease expression in arrhythmogenic right ventricular dysplasia/cardiomyopathy would require in vivo assessment of families in a genetically heterogeneous population.Item Type
ArticleLanguage
enISSN
1524-4539ae974a485f413a2113503eed53cd6c53
10.1161/CIRCULATIONAHA.106.660241
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