A prospective observation for 4 years (from 14 to 17 years) is presented for a girl with Danone’s disease. The early onset of the disease was noted, the clinical picture was dominated by syncopal and syncopal conditions. According to the clinical picture, presyncopal conditions were of a vasovagal nature, which was verified by the results of the Tilt test when the vasodepressor variant was detected. The disease was characterized by isolated cardiac disorders in the form of concentric hypertrophic cardiomyopathy, widespread fibrous changes in the myocardium. According to the standard ECG and daily ECG monitoring, ventricular preexitation syndrome was detected. Electrophysiological examination established the nodo-ventricular tract. Myopathy, cognitive impairment and visual changes were absent. A mutation in the heterozygous state was detected in exon 5 of 9 exons of the LMP2 gene, leading to the acquisition of a premature stop codon, was identified. X:g.119581719G>A ENST00000434600.2: c.718C>T. The mutation was verified by Sanger. The case in the pedigree is sporadic. As a prevention of sudden cardiac death, implantation of a cardioverter-defibrillator was performed. Effective relief of induced stable ventricular fibrillation (Burst stimulation protocol) was achieved only with the use of a ventricular electrode with two shock coils.
The article presents a clinical case of metabolic hypertrophic cardiomyopathy against the background of a late-onset form of Pompe disease, illustrating the difficulties of differential diagnostic search for the cause of the disease. The clinical, laboratory and genetic aspects of the diagnosis of Pompe disease are highlighted. The features of laboratory diagnostics, the difficult path to the correct diagnosis and the appointment of enzyme replacement therapy are discussed. Much attention is paid to the clinical symptoms of the disease — the most significant damage to the cardiovascular system, there is no damage to the musculoskeletal sphere. Clinical picture of late Pompe disease is presented: cardiac rhythm and conduction disorders (ventricular preexcitation syndrome — multiple additional atrioventricular fenestrations), unstable ventricular tachycardia, supraventricular tachycardia, sinus node weakness syndrome. Considered approaches to the prevention of sudden cardiac death the patient underwent surgical treatment: radiofrequency ablation, endocardial implantation of a cardioverter defibrillator. Pathogenetic therapy for Pompe disease has been started.
Рассматривается значение непрерывного образования для профессиональной деятельности специалистов как важнейшего инструмента обеспечения не только текущих, но и перспективных потребностей рынка труда. Одним из способов реализации данного вида образования является освоение дополнительных профессиональ-ных программ, формы которых могут варьироваться в зависимости от потребностей и возможностей слушате-лей (очная, очно-заочная, дистанционная, автономная). Отдельное внимание уделяется программам для науч-но-педагогических работников вузов и подготовке кадров высшей квалификации, которые имеют особую акту-альность в условиях постоянно повышающихся требований к российским университетам. Описывается опыт освоения программы PhD университета Шеффилда (г. Шеффилд, Великобритания), определяются перспекти-вы дальнейшего изучения проблемы.Ключевые слова: непрерывное образование, научно-педагогические работники, дополнительное профес-сиональное образование, подготовка кадров высшей квалификации, ведущие зарубежные научно-образова-тельные центры.
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