Parham D
Tanzania
Case Report
Congenital Alveolar Capillary Dysplasia and New Associations: A Case
Series with a Report of New Associations and Literature Review
Author(s): Nandyal RR, Parham D, Yu Z and Escobedo MNandyal RR, Parham D, Yu Z and Escobedo M
Congenital Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD-MPV) is a rare and a lethal cause of neonatal respiratory failure and severe hypoxemia, secondary to persistent pulmonary hypertension (PPHN). It is refractory to all standard medical therapies including High Frequency Ventilation (HFV), inspired Nitric Oxide (iNO), and Extracorporeal Membrane Oxygenation (ECMO). According to the Online Mendelian Inheritance in Man (OMIM), it is caused by heterozygous mutation in the FOXF1 gene on chromosome 16q24. Newer study has suggested that two other genes can cause (ESRP1) or function as modifiers (PLXNB2) of the ACDMPV phenotype. Most reported cases of ACD-MPV had multiple congenital non-lethal anomalies. Here, we report six cases of autopsyproven ACD-MPV from a single institution during a seven year period. Medical information was obtained from the electronic.. View More»
