Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects. (August 2018)

• Record Type: Journal Article
• Authors: Slot, Evelien; Edel, Gabriëla; Cutz, Ernest; van Heijst, Arno; Post, Martin; Schnater, Marco; Wijnen, René; Tibboel, Dick; Rottier, Robbert; de Klein, Annelies
• Is Part Of: Pulmonary circulation. Volume 8:Number 3(2018)
• Publication Date: 2018-08
• Subjects: pulmonary development -- pulmonary vascular biology -- neonatal lung disease -- bronchopulmonary dysplasia -- transcription factors; Pulmonary circulation -- Periodicals; Pulmonary circulation; Electronic journals -- Sciences; Periodicals; 616.24005
• DOI: 10.1177/2045894018795143
• Languages: English
• ISSNs: 2045-8932

Abstract

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of the underlying molecular mechanism of ACD/MPV and genetic studies have identified associations with genomic alterations in the locus of the transcription factor FOXF1 . This in turn has increased the awareness among clinicians resulting in over 200 cases reported so far, including genotyping of patients in most recent reports. Collectively, this promoted a better stratification of the patient group, leading to new perspectives in research on the pathogenesis. Here, we provide an overview of the clinical aspects of ACD/MPV, including guidance for clinicians, and review the ongoing research into the complex molecular mechanism causing this severe lung disorder.