Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy
dc.contributor.author
dc.date.accessioned
2024-02-06T13:15:40Z
dc.date.available
2024-02-06T13:15:40Z
dc.date.issued
2013-10
dc.identifier.issn
1769-7212
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dc.description.abstract
Introduction: Arrhythmogenic right ventricular cardiomyopathy is an inherited disease characterized by a progressive myocardium fibrofatty replacement. This abnormality disrupts electrical transmission causing ventricular arrhythmias and sudden cardiac death. This genetic disease is transmitted mainly with an autosomal dominant pattern. Our aim was to identify the genetic defect responsible for the pathology in a Spanish family, and to perform its phenotype connotations. Material and methods: A total of 15 individuals in a three-generation Spanish family were screened after the sudden cardiac death of one family member. All they underwent a complete physical examination, 12-lead electrocardiogram, 2-dimensional echocardiography, magnetic resonance imaging, exercise stress test, 24-h Holter and genetic testing. Results: Autopsy revealed the presence of biventricular arrhythmogenic dysplasia in deceased member. Six family members showed clinical symptoms but only three of them fulfilled definite diagnostic criteria of the disease. Genetic analysis showed a novel nonsense genetic variation in nine family members. All family members with clinical symptoms carried the genetic variation. Conclusions: Genetic testing in families affected by arrhythmogenic right ventricular cardiomyopathy helps to identify the genetic cause responsible for the disease. The incomplete penetrance and variable phenotypic expression highlights the need of comprehensive genetic analysis and further phenotype implications of genetics to clarify the pathophysiology of the disease
dc.format.extent
5 p.
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application/pdf
dc.language.iso
eng
dc.publisher
Elsevier
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Versió postprint del document publicat a: https://doi.org/10.1016/j.ejmg.2013.08.001
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European Journal of Medical Genetics (Títol anterior: Annales de Génétique), 2013, vol. 56, num. 10, p. 541-545
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Articles publicats (D-CM)
dc.rights
Reconeixement-NoComercial-SenseObraDerivada 4.0 Internacional
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dc.source
Campuzano Larrea, Oscar Alcalde Masegu, Mireia Berne, Paola Zorio, Esther Iglesias, Anna Navarro-Manchón, Josep Brugada Terradellas, Josep Brugada, Ramon 2013 Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy European Journal of Medical Genetics (Títol anterior: Annales de Génétique) 56 10 541 545
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dc.title
Role of novel DSP_p.Q986X genetic variation in arrhythmogenic right ventricular cardiomyopathy
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/acceptedVersion
dc.identifier.doi
dc.identifier.idgrec
017994
dc.type.peerreviewed
peer-reviewed
dc.identifier.eissn
1878-0849