PEDIATRICS Vol. 81 No. 3 March 1988, pp. 445-451
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Coarctation of the Aorta in Turner Syndrome: A Pathologic Study of Fetuses With Nuchal Cystic Hygromas, Hydrops Fetalis, and Female Genitalia

Ronald V. Lacro MD1, Kenneth Lyons Jones MD1, and Kurt Benirschke MD1

1 From the Division of Dysmorphology, Department of Pediatrics, and Departments of Pathology and Reproductive Medicine; University of California, San Diego, School of Medicine, La Jolla

Congenital heart disease is a frequent feature of Turner syndrome. Although the most frequent cardiac lesion is coarctation of the aorta, a spectrum of cardiac defects occurs which is limited almost exclusively to defects associated with decreased blood flow through the left heart. We report the results of gross anatomic and microscopic dissection of 12 fetuses aborted between 16 and 26 weeks' gestation, with the classic Turner phenotype of nuchal cystic hygromas, hydrops fetalis, and female genitalia. Eight fetuses showed a consistent constellation of cardiac defects: diminution of the ascending aorta, large pulmonary artery ranging from 1frac12 to three times the size of the aorta, large patent ductus arteriosus, and juxtaductal coarctation. Another fetus had hypoplastic left heart and aortic atresia. The remaining three fetuses had normal cardiac anatomy. The lymphatic vessels at the base of the great vessels were carefully examined in nine of the fetuses. Although there was no definite correlation between the degree of cardiac pathology and the extent of lymphatic aberrations at the base of the heart at the time of postmortem examination, the high incidence (75%) of left-sided flow defects among these fetuses, all of whom had large hygromas and severe edema, supports the hypothesis that there is a pathogenetic relationship between lymphatic obstruction and congenital heart disease in the 45,X Turner fetus.

Key Words: Turner syndrome • coarctation of the aorta • congenital heart defect • lymphatic malformation • cystic hygroma

Submitted on January 26, 1987
Accepted on May 27, 1987




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