Published online March 1, 2005
PEDIATRICS Vol. 115 No. 3 March 2005, pp. 732-735 (doi:10.1542/peds.2004-1369)
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Association Between Fetal Lymphedema and Congenital Cardiovascular Defects in Turner Syndrome

Melissa L. Loscalzo, MD*, Phillip L. Van, MS{ddagger}, Vincent B. Ho, MD§, Vladimir K. Bakalov, MD{ddagger}, Douglas R. Rosing, MD||, Carol A. Malone, PA-C||, Harry C. Dietz, MD*,¶ and Carolyn A. Bondy, MD{ddagger}

* McKusick-Nathans Institute of Genetic Medicine and
Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland
{ddagger} Developmental Endocrinology Branch, National Institute of Child Health, National Institutes of Health, Bethesda, Maryland
§ Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, National Institutes of Health, and Department of Radiology, Uniformed Services University of the Health Sciences, Bethesda, Maryland
|| National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland

Objectives. Turner syndrome (TS) is associated with congenital cardiovascular defects (CCVDs), most commonly bicuspid aortic valve (BAV) and aortic coarctation (COARC), congenital renal anomalies, and fetal lymphedema. It has been theorized that compressive or obstructive effects of fetal lymphedema may actually cause cardiovascular and renal dysmorphogenesis in TS. The objective of this study was to determine whether there is a specific association between a history of fetal lymphedema and CCVDs in monosomy X, or TS, independent of karyotype or general severity of the phenotype.

Methods. This was a prospective study of 134 girls and women who have TS (mean age: 30 years) and were clinically evaluated for evidence of fetal lymphedema, classified as central (signified by the presence of neck webbing) or peripheral (current or perinatal, or dysplastic fingernails). The presence of BAV and/or COARC was detected by magnetic resonance imaging combined with echocardiography, and renal anomalies were determined by ultrasound.

Results. There is a strong association between developmental central lymphedema, signified by neck webbing, and the presence of BAV ({chi}2 = 10) and COARC ({chi}2 = 8). The association between webbed neck and CCVDs was independent of karyotype. There was, in contrast, no significant association between renal anomalies and webbed neck or CCVDs.

Conclusions. The strong, statistically significant association between neck webbing and the presence of BAV and COARC in TS suggests a pathogenetic connection between fetal lymphatic obstruction and defective aortic development. The presence of neck webbing in TS should alert the clinician to the possibility of congenital cardiovascular defects.

Key Words: X-chromosome • aortic coarctation • bicuspid aortic valve • lymphedema

Abbreviations: CCVD, congenital cardiovascular defect • BAV, bicuspid aortic valve • COARC, coarctation • TS, Turner syndrome

Accepted Jul 26, 2004.


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