A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins

Abstract

We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

“…A single long‐term survivor is reported in literature who recovered from his pulmonary hypertension crisis by a combination therapy of inhaled NO, epoprostenol, milrinone, and oral pulmonary vasodilators. The mild phenotype of this case can be explained by unique lung CT and histopathological findings (Table ).…”

“…Most infants with ACD die from hypoxemic respiratory failure within the first 2 weeks of life. There are eight cases in which long‐term survival beyond the neonatal period have been described and one infant survived for 36 months . In this case series, two infants with generalized lung involvement presented within the first 2 days of life and died the day after.…”

Variable phenotypic presentation of a novelFOXF1missense mutation in a single family

“…FOXF1 was identified in 2009 as the gene causing ACDMPV . More recently, several case reports suggested ACDMPV with a late presentation, a less severe phenotype, and prolonged survival beyond infancy . Furthermore, a few familial cases have been reported, further indicating epigenetic regulation of the FOXF1 locus in 16q24.1 .…”

A NovelDe NovoPathogenic Variant inFOXF1in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

“…Although atypical late presenters and long-term survivors have been reported,67 ACD/MPV is a fatal disorder that should be considered in neonates with idiopathic persistent pulmonary hypertension whose symptoms recur after weaning from ECMO 1. Extrapulmonary findings are frequently observed, including gastrointestinal, cardiac, and renal anomalies, as well as disruption of right-left asymmetry 18.…”

“…However, neither of these procedures is pursued in the clinical setting of a critically ill newborn 1. Second, clinical heterogeneity of ACD/MPV might allow the lung defect to go undetected 712. Third, a lack of specific clinical knowledge among attending physicians could also contribute to underdiagnosis.…”