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Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

M C Digilio1, F Pugnaloni2, A De Luca3

  • 1Medical Genetics, Pediatric Cardiology, Genetics and Rare Diseases Research Division, Bambino Gesù Pediatric Hospital, Rome, Italy.

Clinical Genetics
|May 4, 2018
PubMed

Insights

Atrioventricular canal defects (AVCD), a common congenital heart defect, may be linked to Hedgehog (Hh) signaling pathway disruptions. This review explores Hh signaling

Area of Science:

  • Developmental Biology
  • Cardiovascular Science
  • Genetics

Background:

  • Atrioventricular canal defect (AVCD) is a frequent congenital heart defect (CHD), often accompanied by extracardiac anomalies.
  • AVCD in certain polydactyly syndromes shares features with heterotaxy, a condition linked to cilia dysfunction and aberrant Hedgehog (Hh) signaling.
  • Hedgehog signaling is crucial for left-right body asymmetry and cardiovascular development, particularly the secondary heart field (SHF).

Purpose of the Study:

  • To review the potential role of Hedgehog (Hh) signaling in the pathogenesis of atrioventricular canal defects (AVCD).
  • To explore how Hh pathway perturbations may lead to overlapping developmental errors with AVCD as a common finding.
  • To consider AVCD within the framework of "developmental fields" affected by genetic and environmental factors.

Main Methods:

  • Literature review synthesizing observations on AVCD, polydactyly syndromes, heterotaxy, and Hh signaling.
  • Analysis of experimental data on Hh pathway components and their impact on cardiovascular development.
  • Conceptual review applying the "developmental field" concept to malformations.

Main Results:

  • Perturbations in various Hh pathway components can result in developmental abnormalities, frequently including AVCD.
  • The cardiac phenotype in some AVCD-associated syndromes resembles that seen in heterotaxy, implicating Hh signaling.
  • The secondary heart field (SHF), vital for AVCD formation, is influenced by Hh signaling at the venous pole.

Conclusions:

  • Hedgehog (Hh) signaling is a potential key player in the pathogenesis of atrioventricular canal defects (AVCD) across various genetic disorders.
  • AVCD can be conceptualized as a defect within a broader "developmental field," susceptible to disruption by genetic and environmental factors.
  • Understanding Hh pathway involvement offers insights into the complex etiology of congenital heart defects like AVCD.

Keywords:
atrioventricular septal defectciliumheterotaxysecondary heart fieldsonic hedgehogsyndrome

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