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• W4385710087 abstract "Introduction. In 2006, the American Heart Association identified two main groups of cardiomyopathies (CM) as primary and secondary, referring to the primary CM heart diseases of genetic, acquired or mixed etiology, and to the secondary — pathological involvement of the myocardium as a part of a systemic pathology.&#x0D; Aim: to determine the most common phenocopies of hypertrophic CM (HCM) in children, due to the accumulation of pathological substances in the myocardium and present their differences.&#x0D; Materials and methods. Instrumental diagnostic methods (echocardiography, electrocardiography, 24-hour Holter ECG monitoring), laboratory tests (N-terminal propeptide of natriuretic hormone, creatine phosphokinase, creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, lactate, ammonia), and molecular genetic tests were used. &#x0D; Results. Nucleotide variants in non-sarcomeric genes causing myocardial hypertrophy were identified in one hundred four (39%) patients: infiltrative diseases with heart damage were diagnosed in 46 cases, syndromes from the RAS-pathy group were diagnosed in 58 cases. Patients with storage diseases included 12 children with Pompe disease, 2 cases with PRKAG2 syndrome, 11 cases had Danon disease, 15 — Corey–Forbes disease, and 6 — Friedreich ataxia. Adverse events were reported in group of patients with Pompe disease (9 deaths), and with Danon’s disease (2 deaths). &#x0D; Conclusion. The phenocopy varieties of HCM in children are represented by a wide variety of genetic variants and often by diseases from the group of glycogen metabolism disorders, fatty acid oxidation disorders, and mitochondrial diseases. Identification of the genetic causes of ventricular myocardial hypertrophy in children is the key to early diagnosis of rare diseases, timely and adequate treatment, as well as predicting the course and outcome of the disease." @default.
• W4385710087 created "2023-08-10" @default.
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• W4385710087 date "2023-06-30" @default.
• W4385710087 modified "2023-10-01" @default.
• W4385710087 title "Hypertrophic cardiomyopathy in the structure of infiltrative diseases in children" @default.
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• W4385710087 doi "https://doi.org/10.46563/1560-9561-2023-26-3-152-158" @default.
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