Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
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- dc.contributor.author Esmel-Vilomara, Roger
- dc.contributor.author Dougherty-De Miguel, Lucy
- dc.contributor.author Artigas-Baleri, Alícia
- dc.contributor.author Turón-Viñas, Eulàlia
- dc.contributor.author Cuscó Martí, Ivon, 1973-
- dc.contributor.author Díaz-Gómez, Asunción
- dc.contributor.author Panadés-de Oliveira, Luisa
- dc.contributor.author Rocamora, Rodrigo
- dc.contributor.author Boronat i Llop, Susanna, 1965-
- dc.date.accessioned 2025-05-19T06:15:54Z
- dc.date.available 2025-05-19T06:15:54Z
- dc.date.issued 2024
- dc.description.abstract Neurodevelopmental disorders have been linked to numerous genes, particularly pathogenic variants in genes encoding postsynaptic scaffolding proteins, like SHANK3. This study aims to provide insights into the cardiovascular profile of patients with pathogenic SHANK3 variants, expanding beyond the well-established associations with neurodevelopmental disorders and epilepsy. We conducted a prospective study involving patients affected by neurodevelopmental disorders with pathogenic SHANK3 variants. Comprehensive cardiovascular assessments were performed and molecular genetic testing included chromosomal microarray followed by clinical exome sequencing. We identified five patients with de novo SHANK3 variants, all of whom exhibited cardiac involvement, including myocardial dysfunction, congenital heart disease (patent ductus arteriosus), and a case of postictal atrial fibrillation. Our findings emphasize an elevated risk of cardiovascular abnormalities in patients with SHANK3 pathogenic variants compared to prior reports. Despite their young age, these patients displayed significant cardiac abnormalities. The study highlights the necessity of integrating cardiac evaluation and ongoing cardiovascular monitoring into multidisciplinary care, facilitating early detection of heart failure and assessment of the risk of sudden unexpected death in epilepsy (SUDEP). Further research is needed to elucidate the underlying mechanisms of cardiac manifestations in SHANK3 mutation carriers.
- dc.format.mimetype application/pdf
- dc.identifier.citation Esmel-Vilomara R, Dougherty-De Miguel L, Artigas-Baleri A, Turón-Viñas E, Cuscó I, Díaz-Gómez A, et al. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy. Eur J Med Genet. 2024 Oct;71:104965. DOI: 10.1016/j.ejmg.2024.104965
- dc.identifier.doi http://dx.doi.org/10.1016/j.ejmg.2024.104965
- dc.identifier.issn 1769-7212
- dc.identifier.uri http://hdl.handle.net/10230/70428
- dc.language.iso eng
- dc.publisher Elsevier
- dc.relation.ispartof Eur J Med Genet. 2024 Oct;71:104965
- dc.rights © 2024 The Authors. Published by Elsevier Masson SAS. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/4.0/
- dc.subject.keyword Cardiac arrhythmias
- dc.subject.keyword Congenital heart defects
- dc.subject.keyword Myocardial dysfunction
- dc.subject.keyword Neurodevelopmental disorders
- dc.subject.keyword Phelan-McDermid syndrome
- dc.subject.keyword SHANK3 variant
- dc.title Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion