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Updated: Oct 11, 2025

In vivo Evaluation of Mucociliary Clearance in Mice
Published on: December 18, 2020
A change of heart: new roles for cilia in cardiac development and disease
Lydia Djenoune1, Kathryn Berg2,3, Martina Brueckner4,5
1Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Insights
Primary cilia, once thought only for embryonic development, are now known to impact congenital heart disease, valve disorders, and heart regeneration. Understanding these cellular structures is key to new cardiac therapies.
Area of Science:
- Cardiovascular Biology
- Cell Biology
- Developmental Biology
Background:
- Primary cilia are cellular organelles with largely unknown roles in the adult heart.
- Their function was primarily associated with left-right axis patterning during embryogenesis.
- Recent discoveries suggest broader involvement in cardiac development and disease.
Purpose of the Study:
- To review the evolving understanding of primary cilia function in the heart.
- To highlight their roles beyond embryogenesis, including in congenital heart disease and valvulogenesis.
- To explore their involvement in mechanosensation, fibrosis, and regeneration.
Main Methods:
- Review of recent scientific literature and findings.
- Synthesis of evidence on primary cilia in cardiac development and pathology.
- Exploration of mechanisms linking cilia to cardiac function.
Main Results:
- Primary cilia are implicated in congenital heart disease pathogenesis.
- They play roles in valvulogenesis, mechanosensation, and cardiac fibrosis.
- Evidence suggests involvement in myocardial regeneration and fibroblast function.
Conclusions:
- Primary cilia have multifaceted roles in cardiac development and disease.
- Further research into cardiac cilia function is crucial for understanding and treating heart conditions.
- Targeting cilia may offer novel therapeutic strategies for cardiovascular disorders.
Abstract:
Although cardiac abnormalities have been observed in a growing class of human disorders caused by defective primary cilia, the function of cilia in the heart remains an underexplored area. The primary function of cilia in the heart was long thought to be restricted to left-right axis patterning during embryogenesis. However, new findings have revealed broad roles for cilia in congenital heart disease, valvulogenesis, myocardial fibrosis and regeneration, and mechanosensation. In this Review, we describe advances in our understanding of the mechanisms by which cilia function contributes to cardiac left-right axis development and discuss the latest findings that highlight a broader role for cilia in cardiac development. Specifically, we examine the growing line of evidence connecting cilia function to the pathogenesis of congenital heart disease. Furthermore, we also highlight research from the past 10 years demonstrating the role of cilia function in common cardiac valve disorders, including mitral valve prolapse and aortic valve disease, and describe findings that implicate cardiac cilia in mechanosensation potentially linking haemodynamic and contractile forces with genetic regulation of cardiac development and function. Finally, given the presence of cilia on cardiac fibroblasts, we also explore the potential role of cilia in fibrotic growth and summarize the evidence implicating cardiac cilia in heart regeneration.
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