Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.

Hdl Handle:
http://hdl.handle.net/10147/253637
Title:
Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.
Authors:
Sen-Chowdhry, Srijita; Syrris, Petros; Ward, Deirdre; Asimaki, Angeliki; Sevdalis, Elias; McKenna, William J
Affiliation:
The Heart Hospital, University College London, United Kingdom.
Citation:
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 Circulation
Publisher:
Circulation
Journal:
Circulation
Issue Date:
3-Apr-2007
URI:
http://hdl.handle.net/10147/253637
DOI:
10.1161/CIRCULATIONAHA.106.660241
PubMed ID:
17372169
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.
Item Type:
Article
Language:
en
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
ISSN:
1524-4539

Full metadata record

DC FieldValue Language
dc.contributor.authorSen-Chowdhry, Srijitaen_GB
dc.contributor.authorSyrris, Petrosen_GB
dc.contributor.authorWard, Deirdreen_GB
dc.contributor.authorAsimaki, Angelikien_GB
dc.contributor.authorSevdalis, Eliasen_GB
dc.contributor.authorMcKenna, William Jen_GB
dc.date.accessioned2012-11-28T12:05:48Z-
dc.date.available2012-11-28T12:05:48Z-
dc.date.issued2007-04-03-
dc.identifier.citationClinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. 2007, 115 (13):1710-20 Circulationen_GB
dc.identifier.issn1524-4539-
dc.identifier.pmid17372169-
dc.identifier.doi10.1161/CIRCULATIONAHA.106.660241-
dc.identifier.urihttp://hdl.handle.net/10147/253637-
dc.description.abstractAccording 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.en_GB
dc.language.isoenen
dc.publisherCirculationen_GB
dc.rightsArchived with thanks to Circulationen_GB
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshAged-
dc.subject.meshArrhythmogenic Right Ventricular Dysplasia-
dc.subject.meshChild-
dc.subject.meshCodon, Nonsense-
dc.subject.meshCohort Studies-
dc.subject.meshDNA Mutational Analysis-
dc.subject.meshDesmocollins-
dc.subject.meshDesmoglein 2-
dc.subject.meshDesmoplakins-
dc.subject.meshDesmosomes-
dc.subject.meshDisease Progression-
dc.subject.meshElectrocardiography-
dc.subject.meshFemale-
dc.subject.meshGenetic Heterogeneity-
dc.subject.meshGenotype-
dc.subject.meshHeart Function Tests-
dc.subject.meshHumans-
dc.subject.meshMagnetic Resonance Imaging-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshMutation-
dc.subject.meshMutation, Missense-
dc.subject.meshMyocardium-
dc.subject.meshPhenotype-
dc.subject.meshPhysical Endurance-
dc.subject.meshPlakophilins-
dc.subject.meshSports-
dc.titleClinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression.en_GB
dc.typeArticleen
dc.contributor.departmentThe Heart Hospital, University College London, United Kingdom.en_GB
dc.identifier.journalCirculationen_GB
dc.description.provinceLeinsteren

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