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.
Authors
- Л. А. Гандаева (ORCID: https://orcid.org/0000-0003-0890-7849)
- Kirill V. Savostyanov (ORCID: https://orcid.org/0000-0003-4885-4171)
- Olga P. Zharova (ORCID: https://orcid.org/0000-0003-4221-8406)
- Nataliya A. Sdvigova (ORCID: https://orcid.org/0000-0002-5313-1237)
- Е. Н. Басаргина (ORCID: https://orcid.org/0000-0002-0144-2885)
- Vladimir I. Barskiy (ORCID: https://orcid.org/0000-0003-1267-1517)
- Irina V. Silnova (ORCID: https://orcid.org/0009-0001-6367-6185)
Institutions
- Center for Children (US)
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
- Field-Weighted Citation Impact
- 0.00