Hypoplastic left heart syndrome
Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided
cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In
addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as
well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to
0.036% of all live births. Newborn infants with the condition generally are born at full term and
initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased,
resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart
murmur, may be detected. The second heart sound is loud and single because of aortic atresia.
Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the
disease, as in the case of most congenital cardiac defects, is not fully known. The most useful
diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal
echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other leftsided
obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic
stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require
surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two
major modalities, primary cardiac transplantation or a series of staged functionally univentricular
palliations. The treatment chosen is dependent on the preference of the institution, its experience,
and also preference. Although survival following initial surgical intervention has improved
significantly over the last 20 years, significant mortality and morbidity are present for both surgical
strategies. As a result pediatric cardiologists continue to be challenged by discussions with families
regarding initial decision relative to treatment, and long-term prognosis as information on longterm
survival and quality of life for those born with the syndrome is limited.
of the aortic tract complexes. Lab Invest 1952, 1(1):61-70.
analysis of 101 cases. Pediatr Clin North Am 1958, 5(4):1029-1056.
Cardiol Young 2004, 14 Suppl 1:13-21.
natural history in a geographically defined population.
Pediatrics 1990, 85(6):977-983.
815,569 children born between 1980 and 1990 and their 15-
year survival: a prospective Bohemia survival study. Pediatr
Cardiol 1999, 20(6):411-417.
Program. A six year evaluation. Conn Med 1975,
syndrome (HLHS): further observations. Clin Genet 1976,
American Heart Association; 1936.
Rubin JD, Ferencz C: Familial risks of congenital heart defect
assessed in a population-based epidemiologic study. Am J Med
Genet 1987, 26(4):839-849.
Louis ; 1996.
St. Louis , Mosby; 1992.
Adolescents. Volume II. 5th edition. Edited by: Adams M. William
and Wilkins .
hypoplastic left-heart syndrome. Am J Dis Child 1987,
associated with the hypoplastic left heart syndrome.
Clin Genet 1989, 36(1):69-72.
left heart syndrome. Int J Cardiol 1989, 25(3):341-343.
prenatal diagnosis, clinical profile, and management.
Am J Obstet Gynecol 1991, 165(3):529-534.
current approach to the surgical treatment of hypoplastic
left heart syndrome. Cardiol Young 2004, 14 Suppl 1:127-130.
and secondary diagnoses for infants born with hypoplastic
left heart syndrome. Pediatrics 2004, 114(2):e160-5.
McGiffin DC, Kirklin JK: Outcome of listing for heart transplantation
in infants younger than six months: predictors of
death and interval to transplantation. The Pediatric Heart
Transplantation Study Group. J Heart Lung Transplant 1997,
Wernovsky G, Gaynor JW, Nicolson SC, Spray TL: Outcomes after
the stage I reconstruction comparing the right ventricular to
pulmonary artery conduit with the modified Blalock Taussig
shunt. Ann Thorac Surg 2005, 80(5):1582-90; discussion 1590-1.
WI Jr., Murphy JD: Hemodynamic profile after the Norwood
procedure with right ventricle to pulmonary artery conduit.
Circulation 2003, 108(7):782-784.
KA, Baffa JM, Norwood WI: Right ventricle to pulmonary artery
conduit improves outcome after stage I Norwood for hypoplastic
left heart syndrome. Circulation 2003, 108 Suppl
Heart Disease. 1st edition. .
perspectives in hypoplasia of the left heart. Cardiol Young 2005,
Mortality associated with congenital heart defects in the
United States: trends and racial disparities, 1979-1997. Circulation
they were the parents of a child with hypoplastic left heart
syndrome. Am J Cardiol 2003, 91(12):1506-9, A9.
innovative approaches to managing hypoplastic left heart
syndrome. Arch Pediatr Adolesc Med 1996, 150(5):487-490.
DC, Walsh AZ, Burnett J, Jonas RA, Mayer JE Jr., Newburger
JW: Cognitive development after the Fontan operation. Circulation
morbidity in children with complex congenital heart disease.
J Pediatr 2003, 142(1):6-8.
reconstruction or transplantation for patients with functionally
univentricular heart. Cardiol Young 2004, 14 Suppl
therapy for hypoplastic left heart syndrome. Cardiol Young
2004, 14 Suppl 1:105-108.
referral results in significantly reduced mortality after congenital
heart surgery. Pediatrics 2003, 112(1 Pt 1):24-28.
Oberhoffer R, Sharland G, Simpson J, Sonesson SE: Recommendations
for the practice of fetal cardiology in Europe. Cardiol
Young 2004, 14(1):109-114.
children with common congenital cardiac lesions. Curr Opin
Pediatr 1995, 7(5):601-605.
CB, Jennings RW, Wilkins-Haug LE, Marx GR, Lock JE: Aortic valvuloplasty
in the fetus: technical characteristics of successful
balloon dilation. J Pediatr 2005, 147(4):535-539.
Haug L, Benson CB, Jennings RW, Lock JE: Creation of an atrial
septal defect in utero for fetuses with hypoplastic left heart
syndrome and intact or highly restrictive atrial septum. Circulation
Options Cardiovasc Med 2000, 2(6):469-480.
39. Rogers BT: Considering treatment options for infants with
hypoplastic left heart syndrome. Acta Paediatr 2000,
heart syndrome: “to treat or not to treat”. J Perinatol 2000,
pediatric heart transplantation. 2000, 11(2):91-97.
E, Hayes CJ, Quaegebeur JM: Hypoplastic left heart syndrome:
valuing the survival. J Thorac Cardiovasc Surg 2000, 119(4
E, Bohle RM, Schranz D: Heart transplantation in children and
infants: short-term outcome and long-term follow-up. Pediatr
Transplant 2001, 5(6):457-462.
Qureshi S, Rosenthal E, Austin C, Anderson D: Outcome of staged
reconstructive surgery for hypoplastic left heart syndrome
following antenatal diagnosis. Arch Dis Child 2001,
management. Arch Dis Child 2001, 85(6):450-451.
LN, Coles JG, Williams WG: Evolving strategies and improving
outcomes of the modified norwood procedure: a 10-year
single-institution experience. Ann Thorac Surg 2001,
syndrome in the 1990s. Am J Cardiol 2002, 89(7):842-846.
and management. Hosp Med 2002, 63(1):24-27.
A complete review to
Orphanet Journal of Rare Diseases 2007, 2:23doi