First results of maintenance of register in electronic form in pediatric patients with hypertrophic cardiomyopathy

Background. The problem of managing children with hypertrophic cardiomyopathy (HCM) remains relevant due to the high risk of sudden cardiac death (SCD). Registers of patients with HCM contribute to a better understanding of the course of the disease and its outcomes. Objective. To study the structure of CMP with a hypertrophic phenotype, as well as to identify clinical, molecular and genetic features of the course of HCM and outcome in children based on anamnestic, clinical and instrumental data from an electronic database. Design and method / Currently, the database includes complete information on 80 children from 0 to 18 years of age inclusive with a hypertrophic phenotype of CMP. The study was performed on the basis of the Department of Pediatric Cardiology and Medical Rehabilitation of the V.A. Almazov” of the Ministry of Health of Russia. The database contains the history of the disease and family history, the results of clinical and laboratory-instrumental examination, the results of molecular genetic research. The register is dynamically updated. Results. The mean age of onset of HCM was 1.75 [0.02; 10.00] years. There were more boys than girls — 54 (67.5 %). The main complaints were decreased exercise tolerance in 35 (43.8 %) children and shortness of breath in 30 (37.5%) children. All children had signs of heart failure (HF): 53 (66.3 %) had signs of functional class 2 HF, 26 (32.5 %) — functional class 1 and 1 (1.2 %) — functional class 3. Ventricular arrhythmias were recorded in 23 (29 %) children, unstable ventricular tachycardia in 2 (2.5 %) children. Myocardial fibrosis of the left ventricle according to the results of MRI of the heart was found in 60.7 %. A lethal outcome was registered in 5 % (n = 4) of cases on average at 241 ± 117 days of life. All the deceased had phenocopies of HCM. Conclusion. Maintaining an electronic database of patients with HCM will allow a better understanding of the influence of factors, including genetic ones, on the course, outcomes, and prognosis of the disease in the pediatric population.