Alveolar capillary dysplasia with misalignment of the pulmonary veins: A surgical lung biopsy and autopsy in a full-term newborn

Abstract

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal interstitial lung disorder, caused by a congenital abnormality affecting the development of the parenchyma and pulmonary vessels. We report the case of a newborn at the end of 40 weeks of pregnancy, who showed no cardiopulmonary anomalies in prenatal control ultrasounds. However, after delivery, pulmonary hypertension and hypoxemic respiratory failure became apparent. She died after 12 days from refractory hemodynamic and respiratory failure despite intensive therapy. A surgical lung biopsy and clinical autopsy were performed, both revealing the same histopathological signs consistent with this disorder. In our case, the findings of digestive and genital malformations, together with the genetic result of the alteration in the FOXF1 gene, led us to conclude the definitive diagnosis of alveolar capillary dysplasia.

Keywords: Alveolar capillary dysplasia; Desalineación de las venas pulmonares; Displasia alveolar capilar; Enfermedad pulmonar intersticial; FOXF1 (forkhead box F1); Forkhead box F1 (FOXF1); Hipertensión pulmonar; Interstitial lung disease; Linfangiectasia; Lymphangiectasia; Pulmonary hypertension; Pulmonary vein misalignment.