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Systematic review of cardiovascular neurocristopathy - contemporary insights and future perspectives

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posted on 2024-07-04, 11:28 authored by Osama Soliman, Yogesh Acharya, Martine Gilard, Garry Duffy, William Wijns, Venkatesh Kannan, Sherif Sultan

Introduction: Neural crest cells (NCCs) are multipotent and are attributed to the combination of complex multimodal gene regulatory mechanisms. Cardiac neural crest (CNC) cells, originating from the dorsal neural tube, are pivotal architects of the cardio-neuro-vascular domain, which orchestrates the embryogenesis of critical cardiac and vascular structures. Remarkably, while the scientific community compiled a comprehensive inventory of neural crest derivatives by the early 1980s, our understanding of the CNC's role in various cardiovascular disease processes still needs to be explored. This review delves into the differentiation of NCC, specifically the CNC cells, and explores the diverse facets of non-syndromic cardiovascular neurocristopathies.

Methods: A systematic review was conducted as per the PRISMA Statement. Three prominent databases, PubMed, Scopus, and Embase, were searched, which yielded 1,840 studies. We excluded 1,796 studies, and the final selection of 44 studies formed the basis of this comprehensive review.

Results: Neurocristopathies are a group of genetic disorders that affect the development of cells derived from the NC. Cardiovascular neurocristopathy, i.e., cardiopathy and vasculopathy, associated with the NCC could occur in the form of (1) cardiac septation disorders, mainly the aortico-pulmonary septum; (2) great vessels and vascular disorders; (3) myocardial dysfunction; and (4) a combination of all three phenotypes. This could result from abnormalities in NCC migration, differentiation, or proliferation leading to structural abnormalities and are attributed to genetic, familial, sporadic or acquired causes.

Discussion: Phenotypic characteristics of cardiovascular neurocristopathies, such as bicuspid aortic valve and thoracic aortic aneurysm, share a common embryonic origin and are surprisingly prevalent in the general population, necessitating further research to identify the underlying pathogenic and genetic factors responsible for these cardiac anomalies. Such discoveries are essential for enhancing diagnostic screening and refining therapeutic interventions, ultimately improving the lives of individuals affected by these conditions

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Data Availability Statement

The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation

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The original article is available at https://www.frontiersin.org/

Published Citation

Soliman O. et al. Systematic review of cardiovascular neurocristopathy - contemporary insights and future perspectives. Front Cardiovasc Med. 2024

Publication Date

9 April 2024

PubMed ID

38660479

Publisher

Frontiers Media S.A.,

Version

  • Published Version (Version of Record)