Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.
Sen-Chowdhry, Srijita Syrris, Petros Ward, Deirdre Asimaki, Angeliki Sevdalis, Elias McKenna, William J
Sen-Chowdhry, Srijita
Syrris, Petros
Ward, Deirdre
Asimaki, Angeliki
Sevdalis, Elias
McKenna, William J
Advisors
Editors
Other Contributors
Date
2007-04-03
Date Submitted
Keywords
Other Subjects
Subject Mesh
Adolescent
Adult
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
Adult
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
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Abstract
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.
Language
en
ISSN
1524-4539
eISSN
ISBN
DOI
10.1161/CIRCULATIONAHA.106.660241
PMID
17372169