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Broadening horizons: new links between cilia and heart development and disease

Wenqi Ma1, Zhuofeng Zhang1, Yun Ma1

  • 1The First Clinical Medical College of Lanzhou University, Lanzhou, Gansu, China.

Frontiers in Cardiovascular Medicine
|March 5, 2026
PubMed

Insights

Defects in cilia, crucial for left-right body axis formation, cause congenital heart disease by disrupting signaling pathways. This review details the molecular mechanisms linking cilia dysfunction to cardiac malformations.

Area of Science:

  • Developmental Biology
  • Genetics
  • Cardiovascular Research

Background:

  • Congenital heart disease (CHD) is the most common birth defect.
  • CHD pathogenesis is linked to abnormal left-right (LR) body axis establishment, dependent on cilia function in the left-right organizer (LRO).

Purpose of the Study:

  • To systematically review molecular pathways where ciliary abnormalities cause cardiac malformations.
  • To integrate multi-species evidence on gene defects affecting ciliary function and subsequent heart development.

Main Methods:

  • Systematic review of multi-species model evidence.
  • Integration of data on conserved genes (e.g., CFAP45, ZIC3, FOXJ1, NEK3, APLNR) and microRNAs.
  • Analysis of the "cilia-LRO-heart" network, including transcriptional regulation, protein stability, miRNA, and planar cell polarity (PCP) pathway.

Main Results:

  • Ciliary defects disrupt nodal flow and mechanical sensing in the LRO.
  • Failure in left-specific calcium ion signaling and Nodal-Pitx2 cascade activation leads to cardiac looping defects.
  • Identified genes and pathways implicated in ventricular septal defects and transposition of the great arteries.

Conclusions:

  • Ciliary dysfunction is a key mechanism underlying congenital heart disease.
  • The review provides a unified network model of cilia's role in heart development.
  • Findings offer new molecular targets for genetic diagnosis and counseling of CHD.

Keywords:
cardiovascular diseaseciliacongenital heart defectsfibrosisgene mutationheart valvesheterotaxy

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