Cardiac Outflow Tract Development and Diseases

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Background

Cardiac outflow tract/conotruncal defects including persistent truncus arteriosus (PTA), tetralogy of Fallot (TOF), transposition of great arteries (TGA), interrupted of the aortic arch, and double outlet right ventricle (DORV) are common human CHDs and most of these congenital cardiac defects require neonatal cardiac surgery. Three cell lineages are critical in the outflow tract development: 1. distal mesenchymal cells originating from the cardiac neural crest cells, 2. the conal cushions in the proximal outflow tract mesenchymal cells, which originate from the endocardium through endocardial-mesenchymal transition, and 3. Primary/First and secondary heart field precursors. The lineages from the cardiac neural crest and second heart field are frequently associated with a different spectrum of CHDs that fall under the spectrum of conotruncal abnormalities clinically. Perturbation of the cardiac neural crest cell and the second heart field causes outflow tract malalignment and septation defects in multiple animal models.

This research topic will focus on recent advances in the understanding of conotruncal pathomechanisms, pathogenesis, diagnosis, treatment, and outcomes in relation to conotruncal anomalies:
1. To understand the current epidemiology and recent advances in the diagnosis and treatment of conotruncal anomalies
2. To share experiences in the care of patients with conotruncal anomalies including long-term outcomes since the advances in the diagnosis, cardiac care, and surgical interventions.
3. To search the pathomechanisms of conotruncal anomalies
4. To provide the recent advances in the understanding of pathophysiology at the cellular and molecular levels.

We welcome articles addressing the following themes:
- Epidemiology, including molecular epidemiology of conotruncal anomalies
- Recent advances in diagnosis including advanced imaging, biomarkers, and treatments
- Recent advances in understanding the causes including underlying genetic, epigenetic and environment, maternal contribution
- Share the experience in the understanding of the neurodevelopmental outcomes in this unique population including early detection and treatment
- To provide the evidence of using cutting-edge modalities like machine learning, big data analysis, and single-cell RNA analysis to understand the pathomechanisms of conotruncal anomalies

Keywords: congenital heart disease, conotruncal anomalies, persistent truncus arteriosus, tetralogy of Fallot, transposition of great arteries, double outlet right ventricle, second heart field, cardiac neural crest, outcomes

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