Research Article

Congenital heart disease in Down's syndrome: two year prospective early screening study.

BMJ 1991; 302 doi: (Published 15 June 1991) Cite this as: BMJ 1991;302:1425
  1. T R Tubman,
  2. M D Shields,
  3. B G Craig,
  4. H C Mulholland,
  5. N C Nevin
  1. Cardiac Unit, Royal Belfast Hospital for Sick Children.


    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.