Table 1 Genes Associated with Hypoplastic Left Heart Syndrome

ERBB4 [7]

2q34

Encodes a tyrosine protein kinase; required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation.

HAND1 [8]

5q33.2

Encodes a basic helix-loop-helix transcription factor important in the formation of the right ventricle and aortic arch arteries

NKX2–5 [9,10,11]

5q35.1

Encodes a homeobox-containing transcription factor important in heart formation and development

NOTCH1 [12,13,14]

9q34.3

Encodes the Notch 1 protein receptor, which sends signals that are important for normal development of many tissues throughout the body, including the aortic valve

GJA1 [15]

6q22.31

Encodes a gap junction protein, which play a role in cell-to-cell communication by forming channels, or gap junctions, between cells and are found in many tissues, including the heart

TBX5 [16]

12q24.1

Encodes T-box protein 5, which plays an important role in the growth and development of the interventricular septum of the heart

MYH6 [17]

14q11.2

Encodes Myosin-6, found in cardiac muscle cells, where it forms part of a larger protein involved in myocyte contractility

FOXC2 [18]

16q24.1

Encodes a transcription factor involved in a variety of developmental processes including the cardiovascular system