A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins
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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.
What is Known:
• Patients with ACD/MPV uniformly die early in life.
• A previously reported case with the same mutation in FOXF1 died at 15 days after birth.
What is New:
• The presented case is the longest survivor with this disease.
• The patient’s mild phenotype can be explained by his residual normal lung tissue.
KeywordsACD/MPV FOXF1 Mild phenotype CT Biopsy
Alveolar capillary dysplasia with misalignment of the pulmonary veins
Polymerase chain reaction
We thank Dr. Christine Kwan for editing and revising this manuscript.
Conflict of interest
The authors declare no conflict of interest.
YI, TD, SK, and YK treated the patient (YI wrote the manuscript under SK’s supervision, and YK took all responsibility of the therapy). MT and MK made the diagnosis using biopsy samples, and TA identified the FOXF1 mutation. KC and MY were consulted about the patient.
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