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Congenital heart disease in Down's syndrome: two year prospective early screening study
T R Tubman1, M D Shields, B G Craig
1Cardiac Unit, Royal Belfast Hospital for Sick Children.
Insights
Echocardiography is crucial for early detection of congenital heart disease in infants with Down syndrome, as standard clinical exams, chest X-rays, and ECGs are less sensitive. Early diagnosis prevents complications and improves surgical outcomes.
Area of Science:
- Pediatric Cardiology
- Medical Diagnostics
- Genetics
Background:
- Congenital heart disease (CHD) is common in children with Down syndrome.
- Early detection of CHD is vital to prevent complications like pulmonary vascular disease.
Purpose of the Study:
- To compare the effectiveness of clinical examination, chest radiography, and electrocardiography with echocardiography in detecting CHD in newborns with Down syndrome.
Main Methods:
- A prospective two-year screening survey was conducted.
- 81 newborn infants with Down syndrome underwent clinical examination, chest radiography, and electrocardiography, followed by Doppler echocardiography.
Main Results:
- Echocardiography detected CHD in 34 infants. Individual methods showed low sensitivity (clinical exam: 0.53, radiography: 0.44, ECG: 0.41) but high specificity.
- Combined clinical examination, radiography, and ECG improved sensitivity to 0.71 and specificity to 0.91.
Conclusions:
- Early echocardiography is essential for identifying CHD in infants with Down syndrome that may be missed by other methods.
- Prompt diagnosis facilitates timely intervention, potentially preventing adverse outcomes from complications such as pulmonary vascular disease and improving surgical results.
Objective:
To determine the effectiveness of clinical examination, chest radiography, and electrocardiography compared with echocardiography in detecting congenital heart disease early in the life of children with Down's syndrome.
Design:
Prospective two year screening survey.
Setting:
Regional paediatric cardiology service, Northern Ireland.
Patients:
81 newborn infants with Down's syndrome born in Northern Ireland between November 1987 and November 1989.
Interventions:
Clinical examination, chest radiography, and electrocardiography soon after birth followed by cross sectional Doppler echocardiography.
Main Outcome Measures:
Diagnostic ability of clinical examination, radiography, and electrocardiography compared with echocardiographic findings.
Results:
34 babies had congenital heart disease detected by echocardiography (13 had atrioventricular septal defects, seven secundum atrial septal defects, six a solitary patent ductus arteriosus, five isolated ventricular septal defects, and three combinations of heart defects). Individual examination methods were insensitive (the sensitivity of clinical examination was 0.53, of radiography 0.44, and of electrocardiography 0.41) but highly specific (the specificity of clinical examination was 0.94, of radiography 0.98, and of electrocardiography 1.0), although sensitivity improved when the three techniques were combined (the sensitivity was 0.71, the specificity 0.91).
Conclusion:
Echocardiography performed early in life can detect congenital heart disease that might otherwise be missed. Early detection may help prevent complications such as pulmonary vascular disease that may adversely affect the outcome of cardiac surgery.