Generalized infantile arterial calcification in the practice of a pediatric cardiologist

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.

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Publication Details

Journal
Russian Pediatric Journal
Published
2024-09-16
DOI
https://doi.org/10.46563/1560-9561-2024-27-4-300-308
Primary Topic
Dermatological and Skeletal Disorders
Type
article
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article

Generalized infantile arterial calcification in the practice of a pediatric cardiologist

Л. А. Гандаева, Kirill V. Savostyanov, Olga P. Zharova, Nataliya A. Sdvigova et al.
Russian Pediatric Journal
Dermatological and Skeletal Disorders
article

Generalized infantile arterial calcification in the practice of a pediatric cardiologist

Л. А. Гандаева, Kirill V. Savostyanov, Olga P. Zharova, Nataliya A. Sdvigova, Е. Н. Басаргина, Vladimir I. Barskiy, Irina V. Silnova
article en

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.

Russian Pediatric JournalVol. 27(4)
Center for Children (US)
Openalex Percentile: Top 81%
Dermatological and Skeletal Disorders
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Generalized infantile arterial calcification in the practice of a pediatric cardiologist — Л. А. Гандаева, Kirill V. Savostyanov, et al. · Russian Pediatric Journal (2024) | TGRS Research Map | TGRS