Related Experiment Video

Updated: Aug 19, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome

Melissa L Loscalzo1, Phillip L Van, Vincent B Ho

  • 1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Pediatrics
|March 3, 2005
PubMed

Insights

Neck webbing in Turner syndrome (TS) is strongly linked to congenital cardiovascular defects like bicuspid aortic valve and aortic coarctation. This finding suggests fetal lymphatic obstruction may cause these heart issues in TS patients.

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology
  • Pediatrics

Background:

  • Turner syndrome (TS) is characterized by congenital cardiovascular defects (CCVDs), renal anomalies, and fetal lymphedema.
  • A potential link between fetal lymphedema and cardiovascular/renal malformations in TS has been proposed.
  • The role of fetal lymphedema in causing dysmorphogenesis in TS requires further investigation.

Purpose of the Study:

  • To investigate the association between fetal lymphedema and CCVDs in Turner syndrome.
  • To determine if this association is independent of karyotype or overall phenotype severity.
  • To differentiate the impact of lymphedema on cardiovascular versus renal development in TS.

Main Methods:

  • Prospective study of 134 individuals with TS.
  • Clinical evaluation for central (neck webbing) and peripheral fetal lymphedema.
  • Cardiovascular assessment using MRI and echocardiography; renal anomaly assessment via ultrasound.

Main Results:

  • A significant association was found between central lymphedema (neck webbing) and bicuspid aortic valve (BAV) and aortic coarctation (COARC).
  • This association remained significant regardless of karyotype.
  • No significant link was observed between neck webbing or CCVDs and renal anomalies.

Conclusions:

  • The strong association between neck webbing and BAV/COARC in TS suggests a causal relationship between fetal lymphatic obstruction and aortic development issues.
  • Neck webbing serves as a clinical indicator for potential CCVDs in Turner syndrome patients.
  • Fetal lymphatic obstruction appears to specifically impact aortic development rather than renal development in TS.
Abstract

More Related Videos

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Left Atrial Ligation in the Avian Embryo as a Model for Altered Hemodynamic Loading During Early Vascular Development04:37

Left Atrial Ligation in the Avian Embryo as a Model for Altered Hemodynamic Loading During Early Vascular Development

Published on: June 16, 2023

Related Concept Videos

Fetal Circulation01:14

Fetal Circulation

Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
Development of the Lymphatic System01:15

Development of the Lymphatic System

The development of lymphatic tissues and vessels in embryonic life begins around the fifth week. These structures originate from the mesoderm layer, with lymph sacs emerging from developing veins.
The first lymph sacs to form are the paired jugular lymph sacs located at the junction of the internal jugular and subclavian veins. From these sacs, lymphatic capillary plexuses extend to the thorax, upper limbs, neck, and head, eventually forming lymphatic vessels. Each jugular lymph sac maintains a...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Lymphatic Vessels and Lymph Transport01:16

Lymphatic Vessels and Lymph Transport

Lymphatic vessels, known as lymphatics, are crucial in transporting lymph from peripheral tissues to our venous system. This process begins with lymph entering through tiny capillaries that branch through tissues. These capillaries have unique features such as larger diameters, thinner walls, and a distinctive one-way valve system formed by overlapping endothelial cells.
This one-way system allows fluids, solutes, and even pathogens to enter but prevents their return to the intercellular spaces.
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Overview of the Vascular System01:20

Overview of the Vascular System

The vascular system comprises an extensive network of arteries, capillaries, and veins. The vascular system can be broadly divided into the blood and lymphatic systems. Typically, blood vessels can be categorized into three histological regions: tunica intima, tunica media, and tunica adventitia. The tunica intima consists of a single layer of endothelial cells attached to the basal lamina. Underlying the basal lamina is a connective tissue layer and an elastic lamina that gives stability and...