Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18

J Am Coll Cardiol. 1990 Mar 1;15(3):673-7. doi: 10.1016/0735-1097(90)90644-5.


To investigate the role that cardiac anomalies play in the early death frequently seen in the trisomy 13 and the trisomy 18 syndromes, two-dimensional and Doppler echocardiograms from 31 newborn infants with cytogenetic confirmation of these syndromes seen at one institution over a 4.5 year period (1983 to 1988) were reviewed. The mean age at echocardiography was 1.5 days, and the median age at death was 14 days. Significant cyanosis was present in 58%. Cardiac anomalies that would be considered lethal within the neonatal period were present in only 19% of patients. The most common lesions were atrial septal defect (81%), ventricular septal defect (61%) and patent ductus arteriosus (85%). Most ventricular septal defects and patent ductus arteriosus were large. Valvular dysplasia of one or more valves, graded as mild in most cases, was found in 68%, but was not associated with Doppler evidence of significant regurgitation or stenosis in any subject. Of the four valves, the pulmonary valve, followed by the tricuspid valve, was the most commonly dysplastic. Doppler evidence suggestive of elevated pulmonary artery pressure (low velocity bidirectional flow across the ventricular septal defect and patent ductus arteriosus), although expected, was accompanied by greater than normal mean right ventricular cavity and free wall dimensions in these patients. Thus, although the cardiac anomalies most frequently encountered in trisomy 13 and trisomy 18 are nonlethal, the combined findings of frequent cyanosis and increased right ventricular dimensions suggest that other factors such as pulmonary hypertension, perhaps related to maldevelopment of the pulmonary vasculature, may contribute to early death in some of these infants.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / mortality
  • Abnormalities, Multiple / physiopathology*
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 18*
  • Echocardiography, Doppler*
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / mortality
  • Heart Defects, Congenital / physiopathology*
  • Humans
  • Infant, Newborn
  • Longevity
  • Survival Rate
  • Trisomy*