Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome
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.
Key wordsParachute mitral valve Trisomy 18 Cardiac defects Extracardiac defects Radial aplasia Omphalocele
Unable to display preview. Download preview PDF.
- Edwards, J. H., Harnden, D. G., Cameron, A. H., Crosse, V. M., Wolff, O. H.: A new trisomic syndrome. Lancet 1960 I, 787–790Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- Lewis, A. J.: The pathology of 18 trisomy. J. Pediatr. 65, 92–101 (1964)Google Scholar
- Ozonoff, M. B., Steinbach, H. L., Mamunes, P.: The trisomy 18 syndrome. Am. J. Roentgenol. 91, 618–628 (1964)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- 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)Google Scholar
- Smith, D. W., Patau, K., Therman, E., Inhorn, S. L.: The No. 18 trisomy syndrome. J. Pediatr. 60, 513–527 (1962)Google Scholar
- 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)Google Scholar