Background: Hypoplastic left heart syndrome (HLHS) is a congenital heart disease that is associated with high mortality rates in the early neonatal period and during surgical treatments. This is mainly due to missed prenatal diagnosis, delayed diagnostic suspicion, and consequent unsuccessful therapeutic intervention.
Case report: twenty-six hours after birth, a female newborn died of severe respiratory failure. No cardiac abnormalities and no genetic diseases had been evidenced or documented during intrauterine life. The case became of medico-legal concern for the assessment of alleged medical malpractice. Therefore, a forensic autopsy was performed.
Results: the macroscopic study of the heart revealed the hypoplasia of the left cardiac cavities with the left ventricle (LV) reduced to a slot and a right ventricular cavity that simulated the presence of a single and unique ventricular chamber. The predominance of the left heart was evident.
Conclusions: HLHS is a rare condition that is incompatible with life, with very high mortality from cardiorespiratory insufficiency that occurs soon after birth. The prompt diagnosis of HLHS during pregnancy is crucial in managing the disease with surgery.
Keywords: autopsy; cardiogenic; hypoplastic left heart syndrome; respiratory insufficiency; shock.