Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?
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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Neck webbing and an increased anterior-posterior thoracic diameter are strong predictors of arterial and venous anomalies in TS.
“Neck webbing and an increased anterior–posterior thoracic diameter are strong predictors of arterial and venous anomalies in TS.390,392,393”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [392]
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- Authors
- Clark, E. B.
- Affiliations
- University of Iowa (US)
- Corresponding author
- Clark, Edward B.
- ORCID
- 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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