Nf1 in heart development: a potential causative gene for congenital heart disease: a narrative review

Abstract

Background Congenital heart diseases are the most frequent congenital disorder affecting a great number of live births. Insights into its genetic etiology could benefit a deeper understanding of this condition. Nf1 has been identified as a potential causative gene but has not been clarified clearly enough. Methods: Evidence from cohort-based and experimental studies on the issue of Nf1 and heart development and congenital heart diseases were searched and summarized from the databases. Results Available evidence demonstrated the correlations between NF1 and congenital heart diseases, mainly pulmonary valvar stenosis. The mechanism underlying may involve the dysregulation of endothelial-mesenchymal transdifferentiating (EMT) . The Nf1 gene cause affects the EMT process via multiple pathways, including directly regulating the expression of EMT-related transcription factors, and indirectly involved in the regulation of the EMT process by regulating the MAPK pathway. Conclusions This narrative review outlines a relatively complete story of the cardiovascular involvement in NF1 in terms of epidemiology and potential mechanisms. Ras signaling may contribute to congenital heart disease independently or in cooperation with other signaling pathways. Efficient management of both NF1 and cardiovascular disease patients would benefit from further research into these issues.