Congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins: Results of a multicenter retrospective study

Vladimir P. Miroshnichenko; Мирошниченко Владимир Петрович; Dmitry Yu. Ovsyannikov; Овсянников Дмитрий Юрьевич; Mikhail A. Abramyan; Абрамян Михаил Арамович; Marina V. Artyushevskaya; Артюшевская Марина Владимировна; Valery V. Gorev; Горев Валерий Викторович; Igor S. Davydov; Давыдов Игорь Сергеевич; Ekaterina G. Denisova; Денисова Екатерина Геннадьевна; Elena V. Zilbert; Зильберт Елена Витальевна; Natalia A. Ilyina; Ильина Наталья Александровна; Mikhail M. Kamenev; Каменев Михаил Михайлович; Anna L. Karpova; Карпова Анна Львовна; Maxim V. Kondratyev; Кондратьев Максим Васильевич; Alexandra S. Panchenko; Панченко Александра Сергеевна; Anastasia S. Petrova; Петрова Анастасия Сергеевна; Ksenia V. Prusakova; Прусакова Ксения Владимировна; Alexander B. Sushchevsky; Сущевский Александр Борисович; Elena L. Tumanova; Туманова Елена Леонидовна; Igor A. Fedorov; Федоров Игорь Анатольевич; Evgenia E. Ekizyan; Экизьян Евгения Энриковна

doi:10.26442/26586630.2025.3.203392

Congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins: Results of a multicenter retrospective study

作者: Miroshnichenko V.P.¹^,2, Ovsyannikov D.Y.¹^,2, Abramyan M.A.¹^,2, Artyushevskaya M.V.³, Gorev V.V.²^,4, Davydov I.S.², Denisova E.G.⁵, Zilbert E.V.⁵^,6, Ilyina N.A.⁷^,8, Kamenev M.M.², Karpova A.L.⁴^,9, Kondratyev M.V.¹⁰^,11, Panchenko A.S.¹², Petrova A.S.¹⁰^,11, Prusakova K.V.⁸, Sushchevsky A.B.¹³, Tumanova E.L.⁵^,6, Fedorov I.A.¹⁴, Ekizyan E.E.¹⁵
隶属关系:
1. Peoples' Friendship University of Russia named after Patrice Lumumba
2. Morozov Children’s City Clinical Hospital
3. Belarusian State Medical University
4. Russian Medical Academy of Continuous Professional Education
5. Pirogov Russian National Research Medical University
6. Filatov Children's City Clinical Hospital
7. Mechnikov North-Western State Medical University
8. Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies
9. Vorokhobov City Clinical Hospital No. 67
10. Moscow Regional Perinatal Center
11. Research Clinical Institute of Childhood
12. Saint Petersburg State Pediatric Medical University
13. 5th City Clinical Hospital
14. South Ural State Medical University
15. City Clinical Hospital No. 20
期: 编号 3 (2025)
页面: 249-254
栏目: Articles
URL: https://pediatria.orscience.ru/2658-6630/article/view/688526
DOI: https://doi.org/10.26442/26586630.2025.3.203392
ID: 688526

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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.

关键词

diffuse developmental disorders of the lungs, genetically determined interstitial lung diseases, congenital alveolar dysplasia, alveolar capillary dysplasia with misalignment of pulmonary veins, pulmonary hypertension, respiratory failure in children, exome sequencing, congenital malformations, TBX4 gene, newborns

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作者简介

Vladimir Miroshnichenko

Peoples' Friendship University of Russia named after Patrice Lumumba; Morozov Children’s City Clinical Hospital

编辑信件的主要联系方式.
Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-4140-8777

Cardiologist

俄罗斯联邦, Moscow; Moscow

Dmitry Ovsyannikov

Peoples' Friendship University of Russia named after Patrice Lumumba; Morozov Children’s City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0002-4961-384X

D. Sci. (Med.), Prof.

俄罗斯联邦, Moscow; Moscow

Mikhail Abramyan

Peoples' Friendship University of Russia named after Patrice Lumumba; Morozov Children’s City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-4018-6287

D. Sci. (Med.)

俄罗斯联邦, Moscow; Moscow

Marina Artyushevskaya

Belarusian State Medical University

Email: vladi.miroshnichenko@gmail.com

Cand. Sci. (Med.)

白俄罗斯, Minsk

Valery Gorev

Morozov Children’s City Clinical Hospital; Russian Medical Academy of Continuous Professional Education

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0001-8272-3648

Cand. Sci. (Med.)

俄罗斯联邦, Moscow; Moscow

Igor Davydov

Morozov Children’s City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-4019-3188

Pathologist

俄罗斯联邦, Moscow

Ekaterina Denisova

Pirogov Russian National Research Medical University

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0009-0005-6441-0564

Student

俄罗斯联邦, Moscow

Elena Zilbert

Pirogov Russian National Research Medical University; Filatov Children's City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-4170-3733

Cand. Sci. (Med.)

俄罗斯联邦, Moscow; Moscow

Natalia Ilyina

Mechnikov North-Western State Medical University; Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-2657-8778

D. Sci. (Med.)

俄罗斯联邦, Saint Petersburg; Saint Petersburg

Mikhail Kamenev

Morozov Children’s City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-2653-4441

Anesthesiologist-Resuscitator

俄罗斯联邦, Moscow

Anna Karpova

Russian Medical Academy of Continuous Professional Education; Vorokhobov City Clinical Hospital No. 67

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0002-1024-0230

Cand. Sci. (Med.)

俄罗斯联邦, Moscow; Moscow

Maxim Kondratyev

Moscow Regional Perinatal Center; Research Clinical Institute of Childhood

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-4531-1323

Anesthesiologist-Resuscitator

俄罗斯联邦, Balashikha; Mytishchi

Alexandra Panchenko

Saint Petersburg State Pediatric Medical University

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-2313-3941

D. Sci. (Med.)

俄罗斯联邦, Saint Petersburg

Anastasia Petrova

Moscow Regional Perinatal Center; Research Clinical Institute of Childhood

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0002-8020-2598

Cand. Sci. (Med.)

俄罗斯联邦, Balashikha; Mytishchi

Ksenia Prusakova

Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0002-3934-6290

Radiologist

俄罗斯联邦, Saint Petersburg

Alexander Sushchevsky

5th City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com

Department Head

白俄罗斯, Minsk

Elena Tumanova

Pirogov Russian National Research Medical University; Filatov Children's City Clinical Hospital

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0003-1149-4061

D. Sci. (Med.), Prof.

俄罗斯联邦, Moscow; Moscow

Igor Fedorov

South Ural State Medical University

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0000-0002-6321-4597

D. Sci. (Med.), Prof.

俄罗斯联邦, Chelyabinsk

Evgenia Ekizyan

City Clinical Hospital No. 20

Email: vladi.miroshnichenko@gmail.com
ORCID iD: 0009-0008-6449-2581

Department Head

俄罗斯联邦, Rostov-on-Don

参考

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2. Fig. 1. Results of examination and necropsy of a full-term boy with congenital alveolar dysplasia: a – chest X-ray at the age of 2 days shows paucity of vascular markings; b – necropsy results (death occurred on Day 20): a double layer of capillaries at a distance from the alveolar epithelium with the occurrence of avascular zones (marked with arrows) – pathognomonic sign of CAD; immunohistochemical reaction with CD31, ×40.

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3. Fig. 2. The results of examination and autopsy of a full-term girl with ACD/MPV: a – angiopulmonography at the age of 3 days to exclude the pathology of the pulmonary veins: a scarcity of filling the hypoplastic pulmonary bed, the absence of the capillary phase of contrasting; b – necropsy results (death occurred on Day 14th of life), a bronchovascular bundle was visualized during microscopy, an abnormal location of the pulmonary vein in a single adventitia (indicated by arrows) with an artery – a pathognomonic sign of alveolar-capillary dysplasia with misalignment of pulmonary veins (ACD/MPV); staining with hematoxylin-eosin, ×20.

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