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Investigating the possible connection between cystic hygroma, nuchal translucency, and the genetic link underlying cardiac lymphatic abnormalities and congenital heart disease: is there an association?

Published online by Cambridge University Press:  07 April 2025

Marios Loukas Open the ORCID record for Marios Loukas [Opens in a new window] ,
Ishank Gupta ,
Brenna Wilson ,
Shamfa Joseph ,
Rachel Levene  and
Michael Montalbano
Marios Loukas*
Affiliation:
Department of Anatomical Sciences, St George’s University, School of Medicine, Grenada, West Indies Department of Clinical Anatomy, Mayo Clinic, Rochester, MN, USA Nicolaus Copernicus Superior School, College of Medical Sciences, Olsztyn, Poland Department of Pathology, St George’s University, School of Medicine, Grenada, West Indies
Ishank Gupta
Affiliation:
Department of Anatomical Sciences, St George’s University, School of Medicine, Grenada, West Indies
Brenna Wilson
Affiliation:
Department of Anatomical Sciences, St George’s University, School of Medicine, Grenada, West Indies
Shamfa Joseph
Affiliation:
Department of Anatomical Sciences, St George’s University, School of Medicine, Grenada, West Indies
Rachel Levene
Affiliation:
Department of Anatomical Sciences, St George’s University, School of Medicine, Grenada, West Indies
Michael Montalbano
Affiliation:
Department of Anatomical Sciences, St George’s University, School of Medicine, Grenada, West Indies
*
Corresponding author: Marios Loukas; Email: [email protected]
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Abstract

Although a direct link between cardiac lymphatics and congenital heart disease (CHD) has not been established, research indicates that abnormalities in the cardiac lymphatic system are involved in several congenital disorders that present with cardiac defects. However, this contribution remains poorly understood and is still an emerging area of study. One theory proposes that abnormal lymphatic development, which can present as cystic hygroma or increased nuchal translucency, may give rise to heart defects such as coarctation of the aorta, hypoplastic left heart syndrome, or bicuspid aortic valves. The genetic pathways for the development of the cardiac lymphatic system and the heart’s major vessels may overlap; therefore, mutations in these genes could result in simultaneous defects in both systems. The close anatomical proximity between cardiac lymphatics and the great vessels of the heart suggests a “cause and effect” relationship, where an abnormality in one could affect the other and lead to congenital defects. Given that congenital heart disease is the most common birth defect in the United States, this systematic review, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, seeks to explore the potential link between cardiac lymphatics and CHD. Understanding this connection could have significant clinical implications by paving the way for new diagnostic approaches and therapeutic strategies for CHDs.

Keywords

Cardiac lymphaticscongenital heart diseaseneck webbingnuchal translucency
Type
Original Article
Information
Cardiology in the Young , First View , pp. 1 - 7
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© The Author(s), 2025. Published by Cambridge University Press

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