4 Deletions Associated with Congenital Heart Diseases in South Brazil.

The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. , , , , and genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the , , , and genes were identified. deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. screening seems to be more effective when directed to these CHDs. The investigation of CNVs in and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.