Congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins: Results of a multicenter retrospective study
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.
Authors
- Е. В. Зилберт
- Mikhail M. Kamenev (ORCID: https://orcid.org/0000-0003-2653-4441)
- M.A. Abramyan (ORCID: https://orcid.org/0000-0003-4018-6287)
- M.V. Kondratev (ORCID: https://orcid.org/0000-0003-4531-1323)
- K. V. Prusakova (ORCID: https://orcid.org/0000-0002-3934-6290)
- В.В. Горев (ORCID: https://orcid.org/0000-0001-8272-3648)
- E Denisova
- Игорь Анатольевич Федоров
- Е.Л. Туманова (ORCID: https://orcid.org/0000-0003-1149-4061)
- A.S. Petrova (ORCID: https://orcid.org/0000-0002-8020-2598)
- V.P. Miroshnichenko (ORCID: https://orcid.org/0000-0003-4140-8777)
- А.Л. Карпова (ORCID: https://orcid.org/0000-0002-1024-0230)
- А. С. Панченко (ORCID: https://orcid.org/0000-0003-2313-3941)
- A. Kh. Ekizyan (ORCID: https://orcid.org/0009-0008-6449-2581)
- Давыдов Игорь Сергеевич (ORCID: https://orcid.org/0000-0003-4019-3188)
- D.Yu. Ovsyannikov (ORCID: https://orcid.org/0000-0002-4961-384X)
- N. A. Ilyina (ORCID: https://orcid.org/0000-0003-2657-8778)
- Alexander B. Sushchevsky
- Marina V. Artyushevskaya
Institutions
- Peoples' Friendship University of Russia (RU)
- Chelyabinsk State Medical Academy (RU)
- Pirogov Russian National Research Medical University (RU)
- Russian Medical Academy of Continuous Professional Education (RU)
- City Clinical Hospital (RU)
- City Clinical Hospital No. 2 (RU)
- City Clinical Hospital No15 named. O. M. Filatova (RU)
- North-Western State Medical University named after I.I. Mechnikov (RU)
- Medical Technologies (Czechia) (CZ)
- Belarusian State Medical University (BY)
- Saint Petersburg State Pediatric Medical University (RU)
Publication Details
- Journal
- Pediatrics Consilium Medicum
- Published
- 2025-10-14
- DOI
- https://doi.org/10.26442/26586630.2025.3.203392
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00