Abstract
Objective. To analyze the dynamics of clinical manifestations in children with restrictive cardiomyopathy (RCMP) caused by mutations in the TNNI3 gene.
Material and methods. The study included observation of 16 children from 2013 to 2024.
Results. In the majority of patients with genetically determined RCMP due to mutations in the TNNI3 gene, the family history was not burdened (94%), the de novo character was established in 6 (37.5%) studied cases (the remaining 10 families were not examined due to parental refusals). At least 62,5% of patients reached the end point (death or heart transplantation) during the period of dynamic follow-up. There was a more severe course of the disease in children with early onset due to extremely limited possibilities of drug therapy and the need for surgical treatment in a short time after the onset of the disease. The foregoing is illustrated by a clinical example of the disease course in an young child.
Conclusion. Genetic verification of the diagnosis helps to determine the prognosis of the disease, which is extremely unfavorable in patients with RCMP caused by mutations in the TNNI3 gene, as well as to resolve the issue of timely heart transplantation.
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About the authors
- Nataliya A. Sdvigova, Cand. Med. Sci., Senior Researcher, Pediatric Cardiologist; ORCID
- Elena N. Basargina, Dr. Med. Sci., Professor, Chief Researcher, Head of Cardiology Department1; ORCID
- Olga P. Zharova, Cand. Med. Sci., Senior Researcher, Pediatric Cardiologist; ORCID
- Leyla A. Gandaeva, Cand. Med. Sci., Leading Researcher, Pediatric Cardiologist; ORCID
- Elena Yu. Basargina, Cand. Med. Sci., Senior Researcher, Pediatric Cardiologist; ORCID
- Irina V. Silnova, Cand. Med. Sci., Senior Researcher, Ultrasonic Diagnostician; ORCID
- Aleksandr A. Pushkov, Cand. Biol. Sci., Leading Researcher; ORCID
- Kirill V. Savostyanov, Dr. Biol. Sci., Head of Medical Genetic Center and Laboratory of Medical Genomics; ORCID
