Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome

  • 25 Accesses

  • 6 Citations


A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect.

The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice.

Many forms of congenital cardiac defects have been described in the 18 trisomy syndrome. However, parachute mitral valve has not, to our knowledge, been part of the spectrum of cardiac defects in trisomy 18.

Other anomalies were absent radii, omphalocele, and cleft palate and cleft lip; these have been observed previously in the 18 trisomy syndrome.

This is a preview of subscription content, log in to check access.


  1. Edwards, J. H., Harnden, D. G., Cameron, A. H., Crosse, V. M., Wolff, O. H.: A new trisomic syndrome. Lancet 1960 I, 787–790

  2. Glancy, D. L., Chang, M. Y., Dorney, E. R., Roberts, W. C.: Parachute mitral valve. Further observations and associated lesions. Am. J. Cardiol. 27, 309–313 (1971)

  3. Greenwood, R. D., Rosenthal, A., Parisi, L., Fyler, D. C., Nadas, A. S.: Extracardiac abnormalities in infants with congenital heart disease. Pediatrics 55, 485–492 (1975)

  4. Harris, L. C., Osborne, W. P.: Congenital absence or hypoplasia of the radius with ventricular septal defect: Ventriculo-radial dysplasia. J. Pediatr. 68, 265–272 (1966)

  5. Jue, K. L., Lockman, L. A., Edwards, J. E.: Anomalous origins of pulmonary arteries from pulmonary trunk (“crossed pulmonary arteries”). Observation in a case with 18 trisomy syndrome. Am. Heart J. 71, 807–812 (1966)

  6. Kurien, V. A., Duke, M.: Trisomy 17–18 syndrome. Report of a case with diffuse myocardial fibrosis and review of cardiovascular abnormalities. Am. J. Cardiol. 21, 431–435 (1968)

  7. Lewis, A. J.: The pathology of 18 trisomy. J. Pediatr. 65, 92–101 (1964)

  8. Ozonoff, M. B., Steinbach, H. L., Mamunes, P.: The trisomy 18 syndrome. Am. J. Roentgenol. 91, 618–628 (1964)

  9. Rabinowitz, J. G., Moseley, J. E., Mitty, H. A., Hirschhorn, K.: Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia. Radiology 89, 488–491 (1967)

  10. Rohde, R. A., Hodgman, J. E., Cleland, R. S.: Multiple congenital anomalies in the E1-trisomy (group 16–18) syndrome. Pediatrics 33, 258–270 (1964)

  11. Rogers, T. R., Hagstrom, J. W. C., Engle, M. A.: Origin of both great vessels from the right ventricle associated with the trisomy-18 syndrome. Circulation 32, 802–897 (1965)

  12. Rosenquist, G. C.: Congenital mitral valve disease associated with coarctation of the aorta: A spectrum that includes parachute deformity of the mitral valve. Circulation 49, 985–993 (1974)

  13. Schiebler, G. L., Edwards, J. E., Burchell, H. B., DuShane, J. W., Ongley, P. A., Wood, E. H.: Congenital corrected transposition of the great vessels: A study of 33 cases. Pediatrics (Suppl.) 27, 851–888 (1961)

  14. Smith, D. W., Patau, K., Therman, E., Inhorn, S. L.: The No. 18 trisomy syndrome. J. Pediatr. 60, 513–527 (1962)

  15. Townes, P. L., Kreutner, K. A., Kreutner, A., Manning, J.: Observations on the pathology of the trisomy 17–18 syndrome. J. Pediatr. 62, 703–709 (1963)

Download references

Author information

Correspondence to Shizen Ishikawa.

Additional information

Studies supported by DHEW/PHS Grant GM20130 from the National Institute of General Medical Sciences

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Ishikawa, S., Gilbert, E.F., Meisner, L.F. et al. Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome. Eur J Pediatr 130, 59–64 (1979). https://doi.org/10.1007/BF00441900

Download citation

Key words

  • Parachute mitral valve
  • Trisomy 18
  • Cardiac defects
  • Extracardiac defects
  • Radial aplasia
  • Omphalocele