Hypoplastic Left Heart Syndrome (HLHS) is a congenital cardiac abnormality characterized by underdevelopment of the left side of the heart. Patients with HLHS have narrowed or closed mitral valve, aortic valve; and underdeveloped aorta and left ventricle. Consequently, right side of the heart is forced to pump blood into both pulmonary and systemic circulation. In newborns, the condition is not initially apparent and become noticeable when the systemic perfusion decreases as a result of arterial duct closure. The symptoms may include: cyanosis, lethargy, weak pulse, poor feeding and breathing problems.
Mutations in the gap junction protein GJA1 (Connexin 43) has been linked to HLHS1, whereas HLHS2 is caused by mutation in NKX2-5 gene. HLHS has also been reported in several cases of trisomy 13, trisomy 18, trisomy 21, Turner's Syndrome, Holt-Oram syndrome, Smith-Lemli-Opitz syndrome and Noonan syndrome.