Cardiac screening of children with Down's syndrome.

OBJECTIVE

To establish the role of clinical and laboratory investigation of the cardiovascular system in children with Down's syndrome.

DESIGN

Prospective evaluation; examiners blinded to results of laboratory studies.

SETTING

Tertiary pediatric referral centre.

PATIENTS

Fifty consecutive children with Down's syndrome presenting to a regional genetic centre. Children less than six weeks of age or with known heart disease were excluded.

MEASURES

Following independent examinations by a geneticist and a pediatric cardiologist, an electrocardiogram (ECG) and two-dimensional and Doppler echocardiograms were carried out.

RESULTS

Assessment by the geneticist yielded two false positives and five false negatives (sensitivity 67%, specificity 88%). Addition of an ECG to clinical evaluation increased the sensitivity to 80% and specificity to 90%, a rate comparable with clinical assessment by a cardiologist. No lesion requiring surgical correction was missed by this combination.

CONCLUSIONS

Where expertise in pediatric echocardiography is not readily available, careful clinical assessment coupled with the interpretation of an ECG is adequate and appropriate screening of the child with Down's syndrome.