Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis

Pediatr Cardiol. 1990 Jul;11(3):138-42. doi: 10.1007/BF02238843.


Congenital heart disease is known to occur in greater than 90% of patients with trisomy 18, with ventricular septal defect and patent ductus arteriosus being the most frequently encountered lesions. The presence of congenital polyvalvular disease in trisomy 18 as assessed by pathological specimens has also been noted. Echocardiograms were obtained in 15 patients with trisomy 18 and in 12 infants with dysmorphic features, who did not have chromosomal abnormalities, in order to obtain an echocardiographic assessment of the frequency of polyvalvular disease in living patients with trisomy 18. In this series all patients with trisomy 18 had structural defects (seven ventricular septal defects, three patent ductus arteriosus, five both). All trisomy 18 patients also had congenital polyvalvular disease with six patients having four affected valves, five patients having three affected valves, and four patients with two affected valves. In patients with normal chromosomes, two had a single abnormal valve, and structural lesions included patent ductus arteriosus (3), ventricular septal defect (2), pulmonary atresia with ventricular septal defect (1), transposition of the great arteries (1), and atrioventricular canal with patent ductus arteriosus and coarctation (1). In infants with features suggestive of trisomy 18, structural cardiac lesions are a nonspecific finding. However, the presence of polyvalvular disease may be a more specific and useful adjunct to other clinical investigations pending chromosomal analysis for definitive diagnosis.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 18*
  • Ductus Arteriosus, Patent / genetics
  • Echocardiography*
  • Female
  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects, Ventricular / genetics
  • Heart Valve Diseases / genetics*
  • Heart Valves / abnormalities
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Retrospective Studies
  • Trisomy*