Pediatria pre prax 5/2019
DiGeorge syndrome (22q11.2 microdeletion syndrome) with congenital heart defect
The aim of this article is to focus on cardiologic approach to the management of patients with DiGeorge syndrome and congenital heart defect. The name of the syndrome refers to the missing part of chromosome 22. Symptoms of 22q11.2 microdeletion syndrome vary from one patient to another. The major life-threatening conditions are conotruncal cardiac anomalies such as tetralogy of Fallot, interrupted aortic arch type B and common arterial trunk. Complete repair of cardiac defect is accomplished under cardiopulmonary bypass in infancy. Despite advances in congenital heart surgery and cardiac intensive care patients with congenital heart disease and genetic syndrome are at increased risk of morbidity and mortality in short-term and long-term follow-up. Associated anomalies include thymus and parathyroid gland abnormalities, cleft palate, delayed psychomotor development and psychiatric disorders. Early detection of genetic syndrome and specialized care for patient with 22q11.2 microdeletion syndrome will improve their health status outcomes.
Keywords: DiGeorge syndrome, 22q11.2 microdeletion, conotruncal heart defect
