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[Down's dyndrome and congenital heart disease (author's transl)]
Insights
Congenital heart disease is common in Down syndrome, with endocardial cushion defects and ventricular septal defects being most frequent. Early diagnosis and intervention are crucial for better surgical outcomes in these children.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Congenital Anomalies
Context:
- Down syndrome is frequently associated with congenital heart disease (CHD).
- Understanding the spectrum and prevalence of CHD in Down syndrome is critical for management.
- This study analyzes CHD in a cohort of 113 children with Down syndrome.
Purpose:
- To characterize the types and prevalence of congenital heart disease in children with Down syndrome.
- To investigate the association between specific cardiac defects and clinical presentation (e.g., cyanosis, pulmonary hypertension).
- To emphasize the importance of early diagnosis and surgical intervention for CHD in Down syndrome.
Summary:
- 50 out of 113 children with Down syndrome had confirmed congenital heart disease.
- Endocardial cushion defects (40%) and ventricular septal defects (26%) were the most common anomalies.
- Pulmonary hypertension was prevalent, particularly in endocardial cushion defects (80%), often in infants.
Impact:
- Highlights the high incidence of CHD in Down syndrome, necessitating specialized cardiac evaluation.
- Underscores the need for early surgical correction or palliation to improve outcomes.
- Informs clinical practice regarding timely diagnosis and management strategies for CHD in this population.
Abstract:
Out of a group of 113 cases of Down's syndrome 50 were associated with congenital heart disease, confirmed by haemodynamic, angiographic and surgical means. The mean age was 36.6 months. Twelve were cyanotic, six of them because of an inverted previous left-toright shunt. The endocardial cushion defect, alone or in association, accounted for 40% of these anomalies, and ventricular septal defect for 26%. If the cases with right ventricle outflow obstruction are excluded, 50% presented pulmonary pressures over 70 mmHg. In addition, 80% of endocardial cushion defects presented pulmonary hypertension, being the three fourths under one year of life. On the basis of the data presented, authors remark the need of an early approach to specialized diagnosis of these children, in order to allow an earlier surgical correction or palliation than in children without Down syndrome.