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

UNLABELLED: This report demonstrates a late presenter and long-term survivor (38 months old) of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) and with a heterozygous frameshift mutation in FOXF1. The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography (CT) and histopathological findings.

CONCLUSION

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