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A rare combination of pulmonary valve agenesis syndrome, X chromosome trisomy, and fetal chromosome 22 microdeletion in a patient with cardiac pathology. Literature review and clinical observation

Authors: Gasanova R.M.1 2, Yarygina T.A.1 3 4, Bolshakova A.S.2, Chernysheva S.G.1, Marzoeva О.V.1, Sipchenko E.V.1, Leonova E.I.1

Company: 1 Bakoulev National Medical Research Center for Cardiovascular Surgery, Moscow, Russian Federation
2 National Medical Research Center of Obstetrics and Gynecology named after Academician V.I. Kularov, Moscow, Russian Federation
3 Moscow Regional Scientific Research Institute of Obstetrics and Gynecology named after Academician V.I. Krasnopolsky, Moscow, Russian Federation
4 Peoples’ Friendship University of Russia named after Patrice Lumumba, Moscow, Russian Federation

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Type:  Case reports


DOI: https://doi.org/10.24022/1997-3187-2024-18S-S148-S156

For citation: Gasanova R.M., Yarygina T.A., Bolshakova A.S., Chernysheva S.G., Marzoeva О.V., Sipchenko E.V., Leonova E.I. A rare combination of pulmonary valve agenesis syndrome, X chromosome trisomy, and fetal chromosome 22 microdeletion in a patient with cardiac pathology. Literature review and clinical observation. Creative Cardiology. 2024; 18 (Special Issue): S148–S156 (in Russ.). DOI: 10.24022/1997-3187-2024-18S-S148-S156

Received / Accepted:  07.10.2024 / 25.10.2024

Keywords: X chromosome trisomy chromosome 22 deletion syndrome congenital heart disease maternal risk factors pulmonary artery valve agenesis right aberrant subclavian artery

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Abstract

This article presents a rare clinical case of fetal heart disease- pulmonary artery valve agenesis, combined with chromosome 22 deletion syndrome and chromosome X trisomy, while the pregnant woman herself had a cardiac pathology.

The rare clinical case presented in this publication highlights the importance of taking maternal risk factors into account when routing pregnant women for prenatal diagnosis.

A significant increase in the effectiveness of early prenatal screening in detecting cases of CHD in the fetus can be achieved by referring pregnant women to expert echocardiography in the first trimester, especially in the presence of pathology from the cardiovascular system.

As early as possible, the detection of cardiac malformations in the fetus provides an opportunity for a comprehensive examination, which must necessarily include an invasive genetic diagnosis.

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About Authors

  • Rena M. Gasanova, Dr. Med. Sci., Research Associate, Cardiologist, Head of Department; ORCID
  • Tamara A. Yarygina, Cand. Med. Sci., Associated Professor, Specialist of ultrasound diagnostics, Researcher; ORCID
  • Anna S. Bolshakova, Geneticist; ORCID
  • Svetlana G. Chernysheva, Cardiologist; ORCID
  • Olga V. Marzoeva, Cand. Med. Sci., Researcher; ORCID
  • Elena V. Sypchenko, Cand. Med. Sci.; ORCID
  • Leonova Elena Igorevna, Specialist of ultrasound diagnostics; ORCID

Chief Editor

Elena Z. Golukhova, MD, PhD, DSc, Professor, Academician of Russian Academy of Sciences, Director of Bakoulev National Medical Research Center for Cardiovascular Surgery


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