A Case Series of Congenital Alveolar Capillary Dysplasia with New Associations and Literature Review | Chapter 14 | New Horizons in Medicine and Medical Research Vol. 6
During a seven-year span, we report six cases of autopsy-proven (unrestricted) ACD-MPV from a single institution (January 2007 to January 2013). Congenital Alveolar capillary dysplasia with pulmonary vein misalignment (ACD-MPV) is a rare and fatal cause of infant respiratory failure and severe hypoxia caused by chronic pulmonary hypertension (PPHN). All typical medical treatments, including as high-frequency ventilation (HFV), inspired nitric oxide (iNO), and extracorporeal membrane oxygenation (ECMO), are ineffective (ECMO). It is caused by a heterozygous mutation in the FOXF1 gene on chromosome 16q24, according to the Online Mendelian Inheritance in Man (OMIM). A new study suggests that two more genes, ESRP1 and PLXNB2, can cause (ESRP1) or modify (PLXNB2) the ACDMPV phenotype. The majority of ACD-MPV cases had several non-lethal congenital abnormalities. Pediatric pathologists from two different university hospitals read and confirmed the pathology slides. An relationship with...