Alveolar capillary dysplasia with misalignment of the pulmonary veins as a cause of hypoxemic respiratory failure in a term newborn
Abstract
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This condition is associated with persistent pulmonary hypertension (PPHN) leading to severe respiratory failure and death.
ACD/MPV is usually accompanied by a complex of congenital anomalies, especially involving gastrointestinal, cardiovascular and urogenital systems. A term newborn is presented in this case report.
The patient suffered from multiple inborn defects: hypoplastic left heart, atrioventricular septal defect with malformed mitral valve, retroesophageal subclavian artery, double right renal artery, two lobes of right lung, intestinal malrotation, annular pancreas, hypoplastic gallbladder, bilateral hydronephrosis, hydroureters, and hemivertebra Th 10. Despite complete resuscitation care the girl died because of pharmacoresistant pulmonary hypertension and hypoxemic respiratory failure at the age of 21 hours.
The gold standard in diagnostics of ACD/MPV represents histologic evaluation of the lung tissue by a pediatric pathologist familiar with the disorder. The characteristic histological features of ACD/MPV were found in this case.
Targeted genetic testing revealed deletion in the chromosomal region 16q24.1, containing the FOX transcription factor gene cluster (including FOXF1, FOXC2, and FOXL1 genes). No deletions in this genomic region are found in different databases of genomic variants, indicating that these changes are pathogenic for ACD/MPV.