Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental lung disorder, which has been increasingly reported. This entity usually presents as neonatal persistent pulmonary hypertension that is unresponsive to treatment, and is known to be uniformly fatal. Recent discoveries in the genetic field, and intensive treatments, may change the natural course of this disease, permitting easier diagnosis and giving new hope for the dismal prognosis. The authors present two cases of siblings, with two years of difference, from different fathers - one of them was a first-degree and the other a second-degree cousin of the mother. Both patients were full-term babies born apparently without malformations and were sent to the nursery. Both siblings near 35 hours of age presented severe respiratory failure due to pulmonary hypertension. The outcome was fatal in both cases and at autopsy ACD/MPV was diagnosed. The authors call attention to this entity in the differential diagnosis of acute respiratory distress in early life.
SenP, YangY, NavarroC, SilvaI, SzafranskiP, KolodziejskaKE, et al. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013;34(6):801-11. [https://doi.org/10.1002/humu.22313]. [PMID:23505205]
HogansonDM, GazitAZ, BostonUS, SweetSC, GradyRM, HuddlestonCB, et al. Paracorporeal lung assist devices as a bridge to recovery or lung transplantation in neonates and young children. J Thorac Cardiovasc Surg. 2014;147(1):420-6. [https://doi.org/10.1016/j.jtcvs.2013.08.078]. [PMID:24199759]
NguyenL, RileyMM, SenP, GalambosC. Alveolar capillary dysplasia with misalignment of pulmonary veins with a wide spectrum of extrapulmonary manifestations. Pathol Int. 2013;63(10):519-21. [https://doi.org/10.1111/pin.12102]. [PMID:24147432]
StankiewiczP, SenP, BhattSS, StorerM, XiaZ, BejjaniBA, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009;84(6):780-91. [https://doi.org/10.1016/j.ajhg.2009.05.005]. [PMID:19500772]
MirandaJ, RochaG, SoaresH, VilanA, BrandãoO, GuimarãesH. Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series. Case Rep Crit Care. 2013;2013:327250. [PMID:24829819].
SenP, GerychovaR, JankuP, JezovaM, ValaskovaI, NavarroC, et al. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet. 2013;21(4):474-7. [https://doi.org/10.1038/ejhg.2012.171]. [PMID:22990143]
KodamaY, TaoK, IshidaF, KawakamiT, TsuchiyaK, IshidaK, et al. Long survival of congenital alveolar capillary dysplasia patient with NO inhalation and epoprostenol: effect of sildenafil, beraprost and bosentan. Pediatr Int. 2012;54(6):923-6. [https://doi.org/10.1111/j.1442-200X.2012.03712.x]. [PMID:23279022]
VassalHB, MaloneM, PetrosAJ, WinterRM. Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). J Med Genet. 1998;35(1):58-60. [https://doi.org/10.1136/jmg.35.1.58]. [PMID:9475097]
LazarDA, OlutoyeOO, CassDL, FernandesCJ, WeltySE, JohnsonKE, et al. Outcomes of neonates requiring extracorporeal membrane oxygenation for irreversible pulmonary dysplasia: the Extracorporeal Life Support Registry experience. Pediatr Crit Care Med. 2012;13(2):188-90. [https://doi.org/10.1097/PCC.0b013e3182231060]. [PMID:21666536]