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.
The low informative value of the allergy testing to titanium makes it difficult to diagnose allergy to this component. The present paper describes a case report of an allergy to a titanium-coated pacemaker implanted into a 14-year-old patient. This is the first time eosinophil cationic protein and tryptase to be detected at the inflammation site while making diagnosis of allergy to titanium-coated pacemaker. The reimplantation of a gold-coated pacemaker prevents recurrence of inflammatory changes in the area of pacemaker insertion and infectious complications.
Clinical observations of three cases of hypertrophic cardiomyopathy caused by mutations in the PRKAG2 gene with a debut in early childhood are presented. The sisters whose father suffered from a severe form of hypertrophic cardiomyopathy in combination with Wolf—Parkinson—White syndrome and died at a young age from progressive heart failure are described. Early manifestation of the disease is characteristic, while there was a combination of ventricular preexitation syndrome and myocardial hypertrophy with rapid progression to extreme values. Hypertrophy was concentric symmetrical and biventricular. The main clinical symptom in the first observation was frequent paroxysms of supraventricular tachycardia. New atrioventricular fenestrations were detected during dynamic observation, insufficient effectiveness of radiofrequency ablation, recurrence of supraventricular tachycardia, and a good response to propafenone were noted. The third clinical case is sporadic, a long-term follow-up for 15 years is presented and clearly reflects the progression of the increase in myocardial hypertrophy and cardiac arrhythmias. The disease debuted from an early age in the form of hypertrophy in combination with severe bradycardia, which made drug therapy difficult. Due to the high risk of sudden cardiac death against the background of extreme myocardial hypertrophy, a cardioverter defibrillator was implanted. Signs of mitochondrial insufficiency according to skeletal muscle biopsy are described.
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