Генетически детерминированное прогрессирующее заболевание проводящей системы сердца у ребенка с вариантами гена SCN5A

Abstract

Progressive cardiac conduction disease (PCCD) refers to a group of genetic disorders that are extremely rare and can be caused by mutations in various genes, including SCN5A. In addition to PCCD, genetic variants of SCN5A can have other diverse phenotypic manifestations in forms of sick sinus syndrome, also known as sinus node dysfunction (SND), atrial fibrillation (AF), Brugada syndrome, long QT syndrome etc. Authors present a clinical case of genetically determined PCCD that had combination of SND (tachy-bradycardia syndrome), AF and intraventricular conduction disorders in a child with histologically confirmed atria fibrosis. Two variants in SCN5A were revealed in the female pediatric patient in a compound heterozygous state during a molecular genetic study. The patient was implanted with a permanent pacemaker, but further progression of the disease led to the manifestation of ventricular tachyarrhythmias and her death. Histological examination confirmed significant replacement of the atrial myocardium with fibrous tissue. Further accumulation of knowledge about the pathogenesis, the course and prognosis of genetically determined cardiac arrhythmias would help identify patients with life-threatening disorders among all children with SCN5A misregulations.