Article
Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.
Journal of perinatology : official journal of the California Perinatal Association - 1 May 2013
Castilla-Fernandez Y, Copons-Fernández C, Jordan-Lucas R, Linde-Sillo Á, Valenzuela-Palafoll I, Ferreres Piñas J C, Moreno-Galdó A, Castillo-Salinas F
Abstract excerpt
We report the case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension. The diagnosis was made by lung biopsy and confirmed at autopsy. Specific genetic analysis demonstrated defects in the FOXF1 gene. The diagnosis of ACD/MPV requires a high level of...
Topics
- Fatal Outcome
- Female
- Forkhead Transcription Factors
- Humans
- Infant, Newborn
- Lung
- Mutation
- Persistent Fetal Circulation Syndrome