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Identification of genetic variants and chromosomal abnormalities associated with Ebstein anomaly

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dc.creatorCabrera, Rodrigospa
dc.creatorMiranda, Marta Catalinaspa
dc.creatorRestrepo Fernández, Carlos Martín
dc.creatorHuertas-quiñones, Victor Manuelspa
dc.creatorLaissue, Paulspa
dc.creatorTamar Silva, Claudiaspa
dc.creatorTomás Hernández, Camilo Joséspa
dc.creatorQuero, Rossispa
dc.creatorOrtiz, Angela Maríaspa
dc.creatorPrograma Pinocchiospa
dc.date.accessioned2020-08-06T16:24:05Z
dc.date.available2020-08-06T16:24:05Z
dc.date.created2017-07spa
dc.description.abstractBackground/Hypothesis: Ebstein Anomaly (EA) is an infrequent congenital heart defect (CHD) with considerable phenotypic heterogeneity in which right ventricle, tricuspid valve and electrical abnormalities prevail. Phenotypic diversity likely reflects an underlying genetic heterogeneity, which combined with studies based on small cohorts, has hindered high-confidence associations with genetic variants. Although a few chromosomal abnormalities and mutations have been linked to the disease, genetic etiologies have not been identified in most cases. Our Cardiovascular Care Center, a referral institution for CHD, has an unusually large cohort of EA patients that allows a comprehensive study of EA genetics. Materials and Methods: We carried out a thorough phenotypic characterization of 147 EA patients, followed by unsupervised two-step cluster analysis to classify patients according to the presence or absence of comorbidities. Selected syndromic/familial cases were subjected to whole exome sequencing and/or comparative genomic hybridization. Variant filtering was accomplished using family members to identify high confidence associations with identified variants. Results: In the cohort analysis, we identified a large proportion of syndromic (10.9%) and familial cases (11.6%). Molecular testing revealed high likelihood causative variants/abnormalities in most of the syndromic/familial cases studied. Our results suggest a novel association of EA with a rare chromosomal abnormality, the identification of a single gene in the 1p36 EA-associated region, as well as novel variants in familial cases with high likelihood of causality. Cluster analysis identified homogeneous endophenotypes that possibly reflect different underlying genetic etiologies. We are currently expanding our analysis to isolated cases. Conclusions: Our data suggest that major causative genetic variants/ chromosomal abnormalities can be found in a significant proportion of EA cases with thorough phenotypic evaluations and genome-scale molecular testing, raising the possibility of a role for genetic testing in the management of EA.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1017/s104795111700110x
dc.identifier.issnISSN: 1047-9511
dc.identifier.issnEISSN: 1467-1107
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/26456
dc.language.isoengspa
dc.publisherCambridge University Pressspa
dc.relation.citationIssueNo. S4
dc.relation.citationStartPageS109
dc.relation.citationTitleCardiology in the Young;7th World Congress of Pediatric Cardiology & Cardiac Surgery Abstracts
dc.relation.citationVolumeVol. 27
dc.relation.ispartofCardiology in the Young, ISSN: 1047-9511 ; EISSN: 1467-1107, Vol.27, No.S4 (July, 2017); pp.S109spa
dc.relation.ispartofWorld Congress of Pediatric Cardiology & Cardiac Surgery, No.7 (July, 2017); P1604spa
dc.relation.urihttps://www.cambridge.org/core/services/aop-cambridge-core/content/view/9E812D0EB5A2C33365174EBF430B255C/S104795111700110Xa.pdf/7th_world_congress_of_pediatric_cardiology_cardiac_surgery_abstracts.pdf#page=109spa
dc.rights.accesRightsinfo:eu-repo/semantics/closedAccess
dc.rights.accesoBloqueado (Texto referencial)spa
dc.sourceCardiology in the Youngspa
dc.source7th World Congress of Pediatric Cardiology & Cardiac Surgery Abstractsspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordCardiorespiratory Medicine and Haematologyspa
dc.subject.keywordMedical and Health Sciencesspa
dc.titleIdentification of genetic variants and chromosomal abnormalities associated with Ebstein anomalyspa
dc.title.TranslatedTitleIdentificación de variantes genéticas y anomalías cromosómicas asociadas con la anomalía de Ebstein.spa
dc.typeconferenceObjecteng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaDocumento de conferenciaspa
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