Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

Am J Med Genet. 2002 Dec 1;113(3):238-41. doi: 10.1002/ajmg.10803.


Congenital heart disease is present in 40-50% of individuals with Down syndrome. Although cardiovascular evaluation is a standard component of the diagnostic work-up in patients with Down syndrome, the value of routine neonatal echocardiography in this population is debated. We studied 114 neonates with Down syndrome who underwent both cardiac physical examination and echocardiography in the neonatal period to assess the accuracy of physical examination for identifying cardiovascular anomalies in this population. We retrospectively reviewed physical examination records and echocardiogram reports in 114 neonates with Down syndrome and trisomy 21. A patient was considered to have an abnormal cardiac physical examination if there was a pathologic cardiac murmur and/or cyanosis or an abnormal systemic arterial oxygen saturation. The median age at the time of physical examination was 2 days (1-30 days). Physical examination findings suggestive of cardiovascular pathology were noted in 77 patients (68%), with an abnormal cardiac murmur in 34 (30%), cyanosis and/or a pulse oximeter reading of < or = 92% in 35 (31%), and both in 7 (6%). The echocardiogram was abnormal in 75 patients (66%), with an atrioventricular septal defect in 33, tetralogy of Fallot in 13, both of these anomalies in 2, a ventricular septal defect in 17, a patent ductus arteriosus beyond 7 days of age in 7, and other anomalies in 2. The sensitivity of physical examination findings for detection of cardiovascular anomalies was 80% and the specificity was 56%. The positive predictive value of an abnormal physical examination was 78% and the negative predictive value of a normal physical examination was 59%. Fifteen patients had a normal physical examination but an abnormal echocardiogram, nine of whom eventually required surgery. Physical examination alone is not sufficient to identify cardiovascular anomalies in neonates with Down syndrome. In the newborn with Down syndrome, the potential benefits of early diagnosis, in the context of physical examination findings, should be considered in determining whether an echocardiogram should be performed in the neonatal period.

MeSH terms

  • Down Syndrome / physiopathology*
  • Ductus Arteriosus, Patent / diagnostic imaging
  • Female
  • Heart Defects, Congenital / diagnostic imaging*
  • Humans
  • Infant, Newborn
  • Male
  • Ultrasonography