Rare combination of congenital heart disease and pulmonary alveolar proteinosis

Pediatr Int. 2015 Oct;57(5):999-1001. doi: 10.1111/ped.12695. Epub 2015 Aug 26.

Abstract

Here, we describe a case of total anomalous pulmonary venous return with coarctation of the aorta that was diagnosed as pulmonary alveolar proteinosis at autopsy in a male infant. Surgical repair was performed at 1 day of age, but the infant died on postoperative day 51 due to respiratory insufficiency without any evidence of pulmonary venous obstruction. He had been unexpectedly diagnosed with pulmonary alveolar proteinosis and pulmonary hypoplasia on autopsy. Congenital pulmonary alveolar proteinosis is a serious condition with a high mortality rate, which should be considered in the differential diagnosis in patients with a clinical picture of pulmonary venous obstruction, because most patients are unable to survive without proper treatment. In this report, we address specific issues that should be discussed in such cases based on our recent experience.

Keywords: congenital heart disease; lung disease; neonate; pulmonary alveolar proteinosis; total anomalous pulmonary venous return.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Pulmonary Alveolar Proteinosis / complications
  • Pulmonary Alveolar Proteinosis / congenital*
  • Pulmonary Alveolar Proteinosis / diagnosis
  • Radiography, Thoracic
  • Respiratory Insufficiency / diagnosis
  • Respiratory Insufficiency / etiology*

Supplementary concepts

  • Pulmonary alveolar proteinosis, congenital