What is a common symptom of DiGeorge syndrome related to cardiac health?

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is associated with a variety of congenital abnormalities, including significant cardiac defects. One of the most common cardiac anomalies observed in individuals with this syndrome is Tetralogy of Fallot. This condition includes four specific structural heart defects that result in inadequate oxygenation of blood, leading to cyanosis and other typical symptoms.

Tetralogy of Fallot typically consists of ventricular septal defect (VSD), pulmonary stenosis, right ventricular hypertrophy, and an overriding aorta. The presence of these defects can lead to various complications, including exercise intolerance and an increased risk of arrhythmias. This combination of anomalies is particularly relevant to DiGeorge syndrome, highlighting its association with disrupted embryological development of the structures that form the heart.

Other cardiac conditions such as aortic stenosis, ventricular septal defect, and patent ductus arteriosus can also occur but are less specifically linked to DiGeorge syndrome than Tetralogy of Fallot. The syndrome's chromosomal deletion impacts specific pathways involved in cardiac development, which is why Tetralogy of Fallot is prominently recognized in this context. Understanding this link aids in the identification and management of the complex presentations of congenital heart diseases