Pediatric Hypoplastic Left Heart Syndrome Differential Diagnoses

Updated: Dec 15, 2020
  • Author: Syamasundar Rao Patnana, MD; Chief Editor: Stuart Berger, MD  more...
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Diagnostic Considerations

Important considerations

It is important that clinicians do not misdiagnose and/or they not fail to recognize the infant with hypoplastic left heart syndrome and the obstruction to pulmonary venous return.

Special concerns

The newborn with hypoplastic left heart syndrome dies rapidly if untreated. Surgical techniques, both reconstruction and heart transplantation, offer an opportunity to preserve the newborn's life. Survival rates given above represent the best results and reflect only survival, not quality of life. Mortality rates in many centers exceed those mentioned. Incidence of neurodevelopmental abnormalities in hypoplastic left heart syndrome appears to exceed that of other single-ventricle conditions.

Hypoplastic left heart syndrome affects family structure. For example, reproductive studies indicate that the incidence of subsequent pregnancy is significantly lower in mothers of a living patient with hypoplastic left heart syndrome than in mothers after death of an infant with hypoplastic left heart syndrome. For these reasons, most pediatric cardiologists continue to offer no treatment as an acceptable option to parents of a newborn with hypoplastic left heart syndrome. It is incumbent on physicians caring for a newborn with hypoplastic left heart syndrome to clearly communicate all of this information to the parents. An ethically appropriate consent for surgery requires this. Allowing an affected infant to die without surgical intervention is a difficult decision but is still chosen by some families and should not be discouraged.

Ethical issues related to transplantation compared with multistage reconstructive surgery were recently reviewed. [31] Although the decision regarding this choice must be made in the best interest of the infant with hypoplastic left heart syndrome, considerations such as interests of the family members and society-at-large may have to be taken into account.

Other problems to be considered

Also consider the following conditions in patients with suspected hypoplastic left heart syndrome:

  • Associated cardiac abnormalities, including anomalous pulmonary venous connection, coarctation of the aorta, complete atrioventricular canal, coronary artery abnormalities (especially in patients with aortic atresia and mitral stenosis), persistent left superior vena cava, and endocardial fibroelastosis (especially in patients with aortic atresia and mitral stenosis)

  • Associated noncardiac abnormalities: Genetic disorders

  • Significant noncardiac abnormalities, including CNS malformation, diaphragmatic hernia, and necrotizing enterocolitis

Differential Diagnoses