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Congenital cardiovascular malformations in Chinese children with Down's syndrome
Insights
This study found ventricular septal defects are more common in Chinese children with Down syndrome and congenital heart disease compared to Caucasians. Multiple cardiac lesions were also frequent in this population.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Down syndrome is associated with a high prevalence of congenital heart disease (CHD).
- Understanding the specific patterns of CHD in different ethnic populations with Down syndrome is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the spectrum and frequency of congenital heart disease in Chinese children with Down syndrome.
- To compare the prevalence of specific cardiac lesions with findings in Caucasian populations.
Main Methods:
- Retrospective analysis of 149 Chinese children diagnosed with Down syndrome and CHD.
- Cardiac abnormalities were diagnosed using cardiac catheterization, two-dimensional echocardiography, and autopsy.
- Literature review on CHD patterns in Down syndrome.
Main Results:
- Ventricular septal defect was the most common lesion (43.6%), occurring more frequently than in Caucasians.
- Other frequent lesions included atrioventricular septal defect (15.4%), atrial septal defect (13.4%), tetralogy of Fallot (13.4%), and patent ductus arteriosus (12.1%).
- Multiple cardiac lesions were present in 36% of cases, with patent ductus arteriosus being the most common coexisting lesion. Aberrant right subclavian artery (16.5%) and radial artery abnormalities (19%) were also noted.
Conclusions:
- Chinese children with Down syndrome exhibit a distinct pattern of congenital heart disease, notably a higher incidence of ventricular septal defects.
- The findings highlight the importance of considering ethnic variations in the presentation of CHD in Down syndrome.
- Further research into the genetic and environmental factors influencing these patterns is warranted.
Abstract:
149 Chinese children (70 boys, 79 girls) with Down's syndrome and congenital heart disease were studied. Diagnosis of the cardiac abnormality was made by cardiac catheterisation in 119, two-dimensional echocardiography in 23 and autopsy in 7. The commonest lesion was ventricular septal defect which was present in 43.6%, a higher frequency than that reported in Caucasians. Other common lesions included atrioventricular septal defect (15.4%), atrial septal defect (13.4%), tetralogy in Fallot (13.4%) and patent ductus arteriosus (12.1%). Multiple lesions occurred in 36% of the cases, with patent ductus arteriosus, the most frequent coexisting lesion. Other cyanotic congenital heart conditions were very rare and coarctation of aorta was not seen. An aberrant right subclavian artery arising from the descending aorta was present in 16.5% and abnormalities of the radial artery at the wrist were found in 19%. The literature on patterns of congenital heart diseases seen in Down's syndrome was reviewed.