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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 previously undescribed congenital abnormalities and a sibling with congenital alveolar dysplasia without capillary dysplasia are among the novel results. All of the patients presented with severe hypoxemia with PPHN verified by an echocardiography (Echo). After the newborns have been subjected to a high level of intensive care, the vast majority of ACDMPV cases are still diagnosed by autopsy. When ECMO fails, ACD-MPV should be investigated as a diagnostic option.



Author(S) Details

R. R. Nandyal
Department of Pediatrics, Neonatology Section, Oklahoma University Health Sciences Center (OUHSC), USA.

D. Parham
Department of Anatomic Pathology, University of Southern California (USC), Los Angeles, CA, USA.

Z. Yu
Department of Pathology, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK, USA.

M. Escobedo
Department of Pediatrics, Neonatology Section, Oklahoma University Health Sciences Center (OUHSC), USA.

View Book:- https://stm.bookpi.org/NHMMR-V6/article/view/6445

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