Positivity of genomic tests in patients with congenital heart defects in a tertiary hospital

Abstract

Introduction: Congenital heart diseases consist of macroscopic structural anomalies of the heart or great vessels that generate functional repercussions on the individual. They currently represent the most common birth defect, with an incidence of approximately 1%-1.2% [1] , accounting for approximately one third of all major congenital anomalies. Genetic investigation of patients diagnosed with congenital heart disease has great potential for better understanding the disease, establishing a prognosis and personalized medical treatment, in addition to the possibility of genetic counseling and screening for family members. Objectives: Based on this panorama, the study seeks to determine the positivity of genetic tests performed on patients with congenital heart defects at InCor-HCFMUSP, a tertiary hospital. Methodology: This is a single-center prospective study, one of the aspects of a larger project that aims to incorporate genomics into cardiovascular diseases through genomic sequencing and clinical analysis. laboratory of the subjects. We will analyze the results of 200 patients with congenital heart defects followed at the outpatient clinic and congenital heart disease ward at InCor-HCFMUSP to perform genomic sequencing.