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Molecular mechanisms of neural crest‐related congenital heart disease

Cardiac neural crest arises from the region of the dorsal neural tube between the mid‐otic placode and the third somite. These cells migrate to the developing heart, and deficiencies in expansion, migration or differentiation are associated with a spectrum of congenital heart disorders ranging from incidental to lethal. Work over several decades has elucidated molecular cascades important for migration and differentiation of cardiac neural crest, and many individual genes associated with these cascades have more recently been implicated in congenital disease in humans. The implicated pathways include semaphorin/plexin, BMP, TGFbeta, FGF and Notch signaling.