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Hypoplastic left heart syndrome is a complex and rare heart defect present at birth (congenital). In hypoplastic left heart syndrome, the left side of the heart is critically underdeveloped. If your baby is born with hypoplastic left heart syndrome, the left side of the heart can't effectively pump blood to the body, so the right side of the heart must pump blood to the lungs and to the rest of the body.There is no known cause in the majority of HLHS cases.There is likely a genetic component, as HLHS has been shown to be heritable and associated with specific gene mutations
Hypoplastic left heart syndrome is treated through several surgical procedures or a heart transplant. Your doctor will discuss with you the treatment options for your child. If the diagnosis has been made before the baby is born, doctors usually recommend delivery at a hospital with a cardiac surgery center. Medication to prevent closure of the connection (ductus arteriosus) between the right and left sides, followed by either surgery or a heart transplant, is necessary to treat hypoplastic left heart syndrome.
Researchers actively study new treatments and surgeries for children who have hypoplastic left heart syndrome and other congenital heart diseases. Ongoing research includes studies in imaging and outcomes, human genetics and regenerative medicine strategies. Mayo doctors are also assembling a biorepository of patient and family histories, heart images, tissue and cell samples, and genomic information of people with hypoplastic left heart syndrome and their family members to further study the condition.
We reviewed the medical records of pregnant women who underwent first trimester screening and were diagnosed with foetal CHD at KKH. Additional information was obtained from the Birth Defect Registry for the period 2008-2009.38 out of 9,834 euploid foetuses were diagnosed with CHD. Major defects were found in 26 (68%) foetuses, while 12 (32%) had minor CHDs. Tetralogy of Fallot, atrioventricular septal defect, hypoplastic left heart syndrome, transposition of the great arteries and ventricular septal defect constituted the five most common major CHDs observed. In 14 (54%) foetuses with prenatally diagnosed major CHD, the outcome was termination of pregnancy.
