Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, developmental lung disorder, which usually presents as persistent pulmonary hypertension of the newborn (PPHN) unresponsive to treatment. The authors present their own experience with three cases admitted during the last 15 years.

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

“… 1 , 6 , 7 In up to 80% of the cases, associated malformations are found for which surgery is occasionally needed. 3 , 8 – 14 These malformations predominantly affect the gastrointestinal tract, but also affect the cardiovascular and urogenital system. 2 – 5 , 9 , 15 , 16 Irrespective of the co-morbidities, the mortality of ACD/MPV is almost 100%.…”

“… 1 , 4 , 7 , 10 , 18 , 19 , 21 , 29 An X-ray of the lungs does not show features specific for ACD/MPV, but can show unspecific diffuse haziness or pneumothoraces, most likely caused by mechanical ventilation. 4 , 7 , 10 , 18 , 19 , 29 A computed tomography (CT) scan may show bilateral widespread ground-glass infiltrates with septal line thickening, 12 , 21 while a CT angiography does not result in the diagnosis either due to the limitations of imaging most peripheral capillaries of the lung. Photoacoustic imaging, however, is able to perform molecular imaging at a high resolution inside different tissues and therefore overcomes the limitations of a CT angiography.…”

“…Rarely, only supplemental oxygen is temporarily enough to stabilize the patient before mechanical ventilation is needed. 4 , 7 , 10 , 15 , 17 , 20 , 37 To reduce the pulmonary vascular resistance, inhaled nitric oxide and oral or intravenous vasodilatory agents such as milrinone, sildenafil, or epoprostenol are used. In the short term, this can improve the saturation levels, but literature shows that the dosage needs to be increased repeatedly and that eventually the severe hypoxemia will be fatal.…”

“…In the short term, this can improve the saturation levels, but literature shows that the dosage needs to be increased repeatedly and that eventually the severe hypoxemia will be fatal. 4,5,7,10,18,20,22,23,37,38 Interestingly, one atypical ACD/ MPV patient was still alive on oral vasodilators and supplemental oxygen at the age of 38 months when the case report was written. 21 ECMO therapy can be used to stabilize infants in lifethreatening conditions if the diagnosis is not clear.…”

Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings

“…More recently, more mutations and deletions were found in the FOXF1 gene related to ACD/MPV. 2 , 6 , 11 To date, 40% of all ACD/MPV cases have mutations in the FOXF1 gene 1 , 12 , the majority are de novo mutations, but familial inheritance and siblings’ involvement were also reported in some cases. 13 , 14 , 15 , 16 …”