Congenital heart desease in chromosome 22 microdeletion syndrome: clinical observation

Abstract

The chromosome 22q11.2 deletion (DiGeorge Syndrome) is a set of morphological, immunological and neurological changes that are a consequence of 22q11.2 deletion. In a typical case, this pathology is a triad of symptoms, including: congenital heart disease, hypoplasia or aplasia of the thymus gland and hypocalcemia which is a consequence of hypoplasia of the parathyroid gland. DiGeorge syndrome is variable in its manifestations and the degree of its severity, which explains the fact that this syndrome has many names, the most famous of which are Sprintzen syndrome, Kyler's syndrome, facial and conotruncal abnormalities. The article describes a clinical case of congenital heart disease in a child of 8 months, who was diagnosed with 22 chromosome microdeletion syndrome, its main clinical manifestations, features of diagnosis and treatment methods. The tactics of managing a patient with DiGiorge syndrome should meet the standards and be focused not only on surgical elimination of the defect from the heart, but also on therapy aimed at timely stabilization of the immune response, prevention of repeated infectious diseases which contributes to the favorable course of the disease and determines a successful prognosis in the future.