PEDIATRICS Vol. 91 No. 4 April 1993, pp. 714-715
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Cardiovascular Abnormalities in Children With Fragile X Syndrome

Linda S. Crabbe MD1, Lusia Hornstein MD1, Andrew S. Bensky MD2, and David C. Schwartz MD2

1 From the Department of Pediatrics, Cincinnati Center for Developmental Disorders, Cincinnati, OH.
2 From the Division of Cardiology, Children's Hospital Medical Center, Cincinnati, OH.

It has been suggested by several authors that the prevalence of mitral valve prolapse and aortic root dilation is increased in individuals with the fragile X syndrome. The prevalence of these abnormalities in young children with fragile X has not been established. Sixteen boys and 1 girl 13 years or younger were studied. Only 1 child (6%) had the typical examination findings of mitral valve prolapse, although his echocardiogram was normal. From this study it appears that cardiac abnormalities in fragile X syndrome develop in late childhood and adolescence. It seems important to follow these children carefully so that these cardiac abnormalities can be documented when they do develop.

Key Words: fragile X • mitral valve prolapse • aortic root dilation

Submitted on July 6, 1992
Accepted on November 3, 1992