MULTIPLE VALVULAR SCLEROSIS IN TURNER PHENOTYPES AND RUBELLA SYNDROME

Five patients presented early in infancy with failure to thrive and congestive heart failure. The pathologic examination of the heart in each patient revealed sclerosis of all the cardiac valves, a rarely reported finding. One patient had the phenotypic expression of the XY Turner phenotype. Another presented with a history of maternal rubella. The rubella virus was subsequently recovered from the patent ductus and from the heart at autopsy. A third patient had the XX Turner phenotype and a history of maternal rubella in the first trimester. These cases (1) call attention to the presence of an unusual cardiac abnormality in patients having, separately or simultaneously, the congenital rubella syndrome and the Turner phenotype syndrome, and (2) present an opportunity to consider the interplay of genetic background and teratogenic insult. © 1969.