Generalized infantile arterial calcification in the practice of a pediatric cardiologist
Nataliya A. Sdvigova,
Elena N. Basargina,
Olga P. Zharova,
Leila A. Gandaeva,
Irina V. Silnova,
Vladimir I. Barskiy,
Kirill V. Savostyanov https://doi.org/10.46563/1560-9561-2024-27-4-300-308
EDN: sjwgdi
Abstract
Introduction. Generalized infantile arterial calcification (IAC) is a rare autosomal recessive disease. The diagnosis of IAC is associated with great difficulties due to the variability of clinical manifestations. The high mortality rate in patients at the onset of the disease in early childhood is characterized due to limited possibilities of drug treatment. Aim: to present two clinical reports concerning patients with a genetically verified diagnosis of IAC with long-term catamnestic follow-up (from 2016 to 2023).
Results. When coronary vessels are affected with IAC, pronounced ischemic changes are detected on the ECG with confirmed normal anatomy of the coronary arteries, which should alert clinicians and contribute to the inclusion of this form of pathology in the spectrum of differential diagnoses.
Conclusion. For the diagnosis of genetically determined IAC, it is extremely important to conduct molecular genetic studies using high-throughput sequencing methods.
Contribution:
Sdvigova N.A., Basargina E.N., Savostyanov K.V. — concept and design of the study;
Sdvigova N.A., Zharova O.P., Silnova I.V. — collection, processing of the material;
Sdvigova N.A., Basargina E.N., Gandaeva L.A. — writing the text;
Basargina E.N., Savostyanov K.V., Barskiy V.I. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.
Acknowledgment. The study had no sponsorship.
Conflict of interest. The authors declare no conflict of interest.
Received: June 28, 2024
Accepted: August 07, 2024
Published: September 16, 2024
About the Authors
Nataliya A. Sdvigova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
MD, PhD, senior researcher, pediatric cardiologist at the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation
e-mail: sdvigova-natalya@yandex.ru
Elena N. Basargina
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Olga P. Zharova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Leila A. Gandaeva
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Irina V. Silnova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Vladimir I. Barskiy
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Kirill V. Savostyanov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
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Review
For citations:
Sdvigova N.A., Basargina E.N., Zharova O.P., Gandaeva L.A., Silnova I.V., Barskiy V.I., Savostyanov K.V. Generalized infantile arterial calcification in the practice of a pediatric cardiologist. Russian Pediatric Journal. 2024;27(4):300-308. (In Russ.) https://doi.org/10.46563/1560-9561-2024-27-4-300-308. EDN: sjwgdi
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