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Ventricular septal defect in Down syndrome. Anatomic types and associated malformations
1Department of Pediatric Cardiology, Bambino Gesú Hospital, Rome, Italy.
Insights
Children with Down syndrome have a higher prevalence of inlet ventricular septal defects and mitral valve clefts. These cardiac anomalies differ significantly from those found in patients without Down syndrome.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Ventricular septal defect (VSD) is a frequent congenital heart defect.
- Down syndrome is associated with a high incidence of cardiac anomalies.
Purpose of the Study:
- To determine the prevalence of different anatomic types of VSD.
- To identify associated cardiac malformations in children with Down syndrome and VSD.
- To compare VSD patterns in children with and without Down syndrome.
Main Methods:
- Retrospective analysis of echocardiographic and angiocardiographic data.
- Inclusion of 73 children with VSD and Down syndrome.
- Comparison with 303 children with VSD but without Down syndrome.
Main Results:
- Inlet VSD was significantly more common in the Down syndrome group.
- Muscular and subpulmonary VSDs were exclusively found in the non-Down syndrome group.
- Mitral valve clefts were more frequent in Down syndrome, while left-sided heart obstructions were seen only in the non-Down syndrome group.
Conclusions:
- Distinct patterns of VSD anatomy and associated cardiac malformations exist between patients with and without Down syndrome.
- These findings highlight specific congenital heart disease profiles associated with Down syndrome.
Abstract:
Ventricular septal defect is a common cardiac anomaly in Down syndrome. To detect the prevalence of anatomic types and associated cardiac malformations we analyzed the echocardiographic and angiocardiographic findings of 73 children with ventricular septal defect and Down syndrome. We compared these results with those obtained in 303 patients with ventricular septal defect without Down syndrome. The prevalence of inlet ventricular septal defect was significantly higher in patients with Down syndrome, while muscular and subpulmonary ventricular septal defects were present only in patients without Down syndrome. The incidence of a cleft of the mitral valve was significantly higher in Down syndrome, while left-ventricular inflow and outflow obstructions were present only in patients without Down syndrome. Different patterns of ventricular septal defect and associated anomalies exist in patients with and without Down syndrome.