Cardiovascular abnormalities in patients with SHANK3 pathogenic variants : Beyond neurodevelopmental disorders and epilepsy
Esmel Vilomara, Roger (Institut de Recerca Sant Pau)
Dougherty-De Miguel, Lucy (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Artigas-Baleri, Alícia (Institut de Recerca Sant Pau)
Turon-Viñas, E. (Institut de Recerca Sant Pau)
Cusco, Ivon (Institut de Recerca Sant Pau)
Díaz-Gómez, Asunción (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Panadés-De Oliveira, Luisa (Hospital del Mar (Barcelona, Catalunya))
Rocamora Zúñiga, Rodrigo Alberto (Hospital del Mar (Barcelona, Catalunya))
Boronat, Susana (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública

Fecha:	2024
Resumen:	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.
Nota:	Altres ajuts: acords transformatius de la UAB
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	SHANK3 variant ; Neurodevelopmental disorders ; Phelan-McDermid syndrome ; Myocardial dysfunction ; Congenital heart defects ; Cardiac arrhythmias
Publicado en:	European journal of medical genetics, Vol. 71 (october 2024) , p. 104965, ISSN 1878-0849
Obra relacionada:	Esmel Vilomara, Roger; Dougherty-De Miguel, Lucy; Artigas, Alicia; [et al.], 2024, "Replication data for: Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy.", https://doi.org/10.34810/data1718, CORA.Repositori de Dades de Recerca, V1 https://doi.org/10.34810/data1718

DOI: 10.1016/j.ejmg.2024.104965

6 p, 4.3 MB

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