Open AccessAlveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects
Author(s) -
Slot Evelien,
Edel Gabriëla,
Cutz Ernest,
Heijst Arno,
Post Martin,
Schnater Marco,
Wijnen René,
Tibboel Dick,
Rottier Robbert,
Klein Annelies
Publication year - 2018
Publication title -
pulmonary circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.791
H-Index - 40
ISSN - 2045-8940
DOI - 10.1177/2045894018795143
Subject(s) - medicine , pathogenesis , genotyping , mechanism (biology) , pathology , lung , dysplasia , genotype , gene , genetics , philosophy , epistemology , biology
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.