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Updated: Aug 29, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
[Incidence of heart defects in Down syndrome]
J A Granzotti1, I L Paneto, F T Amaral
1Departmento de Puericultura e Pediatria da FMRPUSP.
Abstract:
Eighty-six patients with Down Syndrome were studied with the main purpose of quantifying the incidence of congenital heart defects and the risk of occurrence according to the mothers age. Thirty-eight patients had the cariotypes determined, 35 of them having trissomy of chromosome 21 and translocation in 3 cases. Congenital heart disease was found in 44 (51%) of the patients, the most common one being ventricular septal defect. An important incidence of Fallot's tetralogy was also found (20%). These 86 children were submitted to 41 surgical procedures, most of them on the cardiovascular system. The maternal mean age was 33 -/+ 8.6 years and the estimated risk of Down Syndrome was 1/590, a lower value than the one reported in other studies.
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