Novel Mutation Lys30Glu in the Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.

Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.

[Complex treatment of children with vascular head and neck malformations].

Aim: The article analyzes the results of treatment of children affected with lesions of blood vessels of the head and neck. The research is aimed at developing and implementing minimally invasive techniques to treat such children.

Material And Methods: The study group comprised 4416 patients with hyperplasia of blood vessels (the so-called infantile and congenital hemangiomas) and 397 patients with blood vessel malformations, examined and treated from 1991 to 2020.

[Modern Approach and Successful Experience of Conservative Treatment of Infantile Hemangiomas with Non-Selective Beta-Blocker Propranolol].

The article deals with the actual problem of modern treatment of infant hemangiomas. The accumulated 10-year experience of using propranolol in 512 patients has shown its effectiveness and safety. The team of authors developed a protocol for managing patients with infantile hemangiomas of various localization at all stages of treatment.

Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.

Idiopathic dilated cardiomyopathy (DCM) is a common cardiomyopathy with the prevalence of 1:250, and at least one-third of all the cases are inherited. Mutations in the TTN gene are considered as the most frequent cause of inherited DCM and cover 10-30% of the cases. The studies were mainly focused on the adult or mixed age group of patients with DCM.

[Genetic and clinical characteristics of 22q11.2 deletion syndrome].

In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.