title: Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.
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.
authors.affiliation: Neonatology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain. ycastilla@vhebron.net
authors.forename: Y
authors.initials: Y
authors.lastname: Castilla-Fernandez
authors.forename: C
authors.initials: C
authors.lastname: Copons-Fernández
authors.forename: R
authors.initials: R
authors.lastname: Jordan-Lucas
authors.forename: Á
authors.initials: Á
authors.lastname: Linde-Sillo
authors.forename: I
authors.initials: I
authors.lastname: Valenzuela-Palafoll
authors.forename: J C
authors.initials: JC
authors.lastname: Ferreres Piñas
authors.forename: A
authors.initials: A
authors.lastname: Moreno-Galdó
authors.forename: F
authors.initials: F
authors.lastname: Castillo-Salinas
mesh_terms: D017809:Fatal Outcome; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000473:pathology*; D009154:Mutation; D010547:Persistent Fetal Circulation Syndrome / Q000235:genetics / Q000473:pathology*
chemical_list: C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors