This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of findings for Kabuki syndrome.

A 2-week-old female infant presented with acute decompensated left ventricular failure. Echocardiography diagnosed left ventricular noncompaction cardiomyopathy with dilated phenotype and a left ventricular shortening fraction <10%. The infant was mechanically ventilated for 2 weeks and then successfully extubated. She was maintained on intravenous milrinone for 6 months until she underwent successful orthotopic heart transplantation. Young children can be supported with inotropes for prolonged periods while awaiting heart transplantation.

No abstract