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.
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Orphanet Journal of Rare Diseases 2007, 2:23doi