Cited by 160Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesCongenital Heart Disease StudiesVascular anomalies and interventions

Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?

Clark, Edward B.·1984·Teratology

Abstract

This study explores the association between neck web and congenital heart disease in patients with Turner syndrome. Of 193 cases with documented 45 X-O karyotype, 106 (55%) had a web neck and 87 (45%) had a normal neck. The incidence of congenital heart disease was significantly different between these two groups, occurring in 30% of those with web neck and 9% of those with normal neck (x2 = 12.82, P less than .0005). The difference was most striking in coarctation of the aorta for which the prevalence was 25% with web neck and 3% with normal neck (X2 = 17.65, P less than .0001). The association between web neck and congenital heart disease suggests a pathogenic relationship exists between the two. The following hypothesis is proposed to explain the association. Increased lymphatic pressure associated with jugular lymphatic sac obstruction distends the thoracic ducts, which compress the ascending aorta altering intracardiac blood flow. Redirection of intracardiac blood flow produces coarctation of the aorta and other defects in the spectrum of left heart obstruction. This proposed mechanism is an example of a teratogenic event remote from the heart, which alters cardiovascular morphology.

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Crossref · 10.1002/tera.1420290305

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Authors
Clark, E. B.
Affiliations
University of Iowa (US)
Corresponding author
Clark, Edward B.
Venue
Teratology
Publisher
Wiley
Published
1984-06
Volume
29
Issue
3
Pages
355-361
ISSN
  • 0040-3709 (ISSN-L)
  • 1096-9926
OpenAlex
W1965471413
Cited by
160
References
32
Citations by year
2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 1 · 2020: 2 · 2019: 1 · 2018: 8 · 2017: 6 · 2016: 4 · 2015: 2 · 2014: 4 · 2013: 6 · 2012: 3
FWCI
2.25
Type
journal article
Language
en
Open access
closed
Locations
  • Teratology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
  • Health Sciences › Medicine › Surgery › Vascular anomalies and interventions
Keywords
Turner syndrome, congenital heart disease, coarctation of the aorta, left heart obstruction, intracardiac blood flow, teratogenic mechanisms
MeSH terms
Abnormalities, Multiple, Aortic Coarctation, Female, Fetal Heart, Heart Defects, Congenital, Humans, Neck, Thoracic Duct, Turner Syndrome

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