Alveolar capillary dysplasia with misalignment of pulmonaryz veins: Concordance between pathological and molecular diagnosis

Y. Castilla-Fernandez*, C. Copons-Fernández, R. Jordan-Lucas, Á Linde-Sillo, I. Valenzuela-Palafoll, J. C.Ferreres Piñas, A. Moreno-Galdó, F. Castillo-Salinas

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Abstract

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 suspicion and is made by lung biopsy or necropsy examination by a pediatric pathologist with experience in this condition. The availability of genetic testing has led to increasing diagnosis of patients with this lethal disorder and can influence their management, specifically by indicating the need for lung biopsy in a critically ill newborn.

Original languageAmerican English
Pages (from-to)401-403
Number of pages3
JournalJournal of Perinatology
Volume33
Issue number5
DOIs
Publication statusPublished - Apr 2013

Keywords

  • alveolar capillary dysplasia
  • FOXF1 gene
  • misalignment of pulmonary veins
  • persistent pulmonary hypertension of the newborn

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