Table 2.

Genetic mutations associated with HLHS.

Gene	Mutations identified	Mechanism of action
NKX2.5	• Missense	Cardiac transcription factor: mutation causes diminished ability to bind to DNA [121]
NOTCH 1	• Substitution	Cardiac transcription factor: mutation causes dysregulation of cardiac chamber development
	• Frame shift	and valvulogenesis [62]
	• Splice site
RbFOX2	• Splice site	RNA binding protein: Mutation affects epithelial to mesenchymal transition, stem cell
	• Nonsense	differentiation, RNA splicing [65,122]
	• Frame shift
ETS 1	• Copy number variant	Involved in neural crest development and development of endocardium
	• Deletion	Implicated in Jacobsen syndrome [123]