Description
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.
| Date made available | 8 Oct 2024 |
|---|---|
| Publisher | CORA.Repositori de Dades de Recerca |
Research output
- 1 Article
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Cardiovascular abnormalities in patients with SHANK3 pathogenic variants : Beyond neurodevelopmental disorders and epilepsy
Esmel Vilomara, R., Dougherty-De Miguel, L., Artigas-Baleri, A., Turon-Viñas, E., Cusco, I., Díaz-Gómez, A., Panadés-De Oliveira, L., Rocamora, R. & Boronat, S., 2024, In: Annales de Genetique. 71, 6 p., 104965.Research output: Contribution to journal › Article › Research › peer-review
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