Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV)—awareness prevents extended or futile ECMO use

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, congenital lung disorder involving abnormal development of the capillary vascular system around the alveoli of the lungs, which clinically presents as persistent pulmonary hypertension of the newborn (PPHN) refractory to treatment. It has been linked to the gene FOXF1 on chromosome 16q24.1–q24.2. Histopathological examination by lung biopsy is the gold standard for diagnosis. We present four cases of ACD/MPV who were referred for ECMO support with a diagnosis of PPHN with no apparent congenital anomalies. All the newborns had an overwhelming course, with PPHN and hypoxemia refractory to treatment. The diagnosis of ACD/MPV was established by ante-mortem lung biopsy in all cases. Intensive care treatment was withdrawn post diagnosis, with none of the four surviving. Early lung biopsy for a histological diagnosis allows expensive and ineffective treatment to be avoided. Lung biopsy can be performed with low risk and high-diagnostic yield for alveolar capillary dysplasia.