Clinical features of pediatric Danon disease and the importance of early diagnosis.

Successful therapy in a cohort with early onset Danon disease (DD) highlights the potential importance of earlier disease recognition. We present experience from the largest National Pediatric Center in Russia for cardiomyopathy patients. This report focuses on identification of early clinical features of DD in the pediatric population by detailed pedigree analysis and review of medical records.

The Double Mutation -p.S363X and -p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC.

[Familial left ventricular noncompaction: phenotypes and clinical course. Results of the multicenter registry].

Aim: To analyze and demonstrate various phenotypes in patients with familial left ventricular noncompaction (LVNC).

Materials And Methods: In 2013 was created a multicenter registry of LVNC patients. On its basis 30 families with a familial LVNC were selected.

[Effect of cardiovascular functional disorders on cerebral oxygenation in children].

The article deals with data of cerebral oximeter INVOS Somanetics (US) used for comparison the degree of brain oxygenation reduction, ejection fraction and stroke volume relative to age norms in children with dilated cardiomyopathy.

[Molecular mechanisms of genetic damages of the myocardium in cardiomyopathy].

The review highlighted problems of reorganization of myocardical contractile and cytoskeletal proteins in cardiomyopathy (CM). The role of the genetic factors coding contractile proteins, proteins of thin and thick filaments, and also extracellular matrix proteins in processes of formation and development of hypertrophic (HCM) and dilated (DCM) cardiomyopathy are analyzed. The mechanisms responsible for the changes in cardiac proteins on regulation involved into force generation, its transfer, recycling ATP, impairments in transmembranal signals, that finally lead to cardiac cell dysfunction determining various manifestations of CM are considered.

[Immediate and late results of combined treatment of dilatated cardiomyopathy in children].

Effects of combined treatment of chronic heart failure on the clinical course and outcome of dilatated cardiomyopathy was evaluated in 151 children followed up for 6 months-14 years (4.0 +/- 0.5 yr).

[Biochemical and immunological markers of insufficiency of blood circulation at children with cardiomiopathies].

Complex clinical-laboratory investigation of children with congestive heart failure (CHF) developed on the basis of dilated cardiomyopathy and hypertrophic cardiomyopathy has been carried out. The development of CHF in children with cardiomyopathy was accompanied by changes of blood serum lactate, MB isoform of creatine phosphokinase, TNF-6, interleukin-6 (IL-6) (but not IL-2), and soluble receptors for IL-2 and IL-6.