Pediatria pre prax 6/2023

Most common genetic syndromes associated with congenital heart defects

Congenital heart defects represent structural abnormalities of the heart and major blood vessels and are among the most common congenital defects. In approximately 30 % of patients with congenital heart defects, associated genetic syndromes can be observed, including Down syndrome, Turner syndrome, 22q11 deletion syndromes, Williams-Beuren syndrome, and Noonan syndrome. Individual genetic syndromes are often associated with specific types of heart defects, such as atrioventricular septal defect (AVSD) with Down syndrome or left-sided obstructive defects with Turner syndrome. Etiologically, genetic syndromes can be divided into chromosomal and monogenic. As cardiac defects are often severe in these patients and require surgical intervention, and at the same time many patients also experience extracardiac complications, a multidisciplinary approach and care are crucial for reducing mortality and morbidity in these patients. This article focuses on an overview of genetic syndromes associated with congenital heart defects, with an emphasis on clinical presentation, diagnosis, management, and prognosis.

Keywords: genetic syndromes, congenital heart defects, Down syndrome, trisomies, DiGeorge syndrome, Williams-Beuren syndrome, Turner syndrome, Noonan syndrome