Congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins: Results of a multicenter retrospective study
Year: 2025
Type: article
Study design: Observational Study
Abstract: Background. Congenital alveolar dysplasia (CAD) and alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) are rare, fatal, genetically determined interstitial lung diseases in infants, associated with pulmonary hypertension. Aim. Clinical, instrumental, and pathomorphological characteristics of patients with CAD and ACD/MPV. Materials and methods. Fifteen patients with CAD (9) and ACD/MPV (6) were included in a multicenter study. The following examination methods were used: echocardiography, chest X-ray, and chest computed tomography, angiopulmonography, catheterization of the right heart, whole-exome sequencing, and histological autopsy. Results. CAD and ACD/MPV were diagnosed in term infants (13/15) and manifested in the first 3 days of life with high pulmonary hypertension resistant to therapy. Deaths were recorded in the first 3 months. Conclusion. CAD and ACD/MPV have similar clinical presentations. Diagnosis can be verified through histological examination of the lungs and whole-exome sequencing.
Source: Pediatrics Consilium Medicum
Authors: Vladimir P. Miroshnichenko, Dmitry Yu. Ovsyannikov, Mikhail A. Abramyan, Marina V. Artyushevskaya, Valery V. Gorev, Igor S. Davydov, Ekaterina G. Denisova, Elena V. Zilbert, Natalia A. Ilyina, Mikhail M. Kamenev, Anna L. Karpova, Maxim V. Kondratyev, Alexandra S. Panchenko, Anastasia S. Petrova, Ksenia V. Prusakova, Alexander B. Sushchevsky, Elena L. Tumanova, Igor A. Fedorov, Evgenia E. Ekizyan
Institutions: Peoples' Friendship University of Russia, Belarusian State Medical University, Russian Medical Academy of Continuous Professional Education, Pirogov Russian National Research Medical University, City Clinical Hospital No15 named. O. M. Filatova, North-Western State Medical University named after I.I. Mechnikov, Saint Petersburg State Pediatric Medical University, Chelyabinsk State Medical Academy
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4415155546