Tetralogy of Fallot

Tetralogy of Fallot is a rare, complex congenital heart defect, meaning that it is present at birth. It causes oxygen-poor blood and oxygen-rich blood to mix together, with both being pumped out of the heart and into the blood vessels. As a result, blood leaving the heart has less oxygen than is needed by the organs and tissues of the body, causing a condition called hypoxemia. Ongoing and long-term lack of oxygen causes cyanosis, a condition marked by a bluish color of the skin, lips, and membranes inside the nose and mouth.

Tetralogy of Fallot involves four heart defects: a ventricular septal defect, or a hole in the wall between the heart's two lower chambers; pulmonary stenosis, or the narrowing of the pulmonary valve (which carries blood from the heart to the lungs), causing it to not open fully; right ventricular hypertrophy, in which the muscle of the right ventricle is thicker than usual; and a defect in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. Doctors repair this defect with open-heart surgery, either soon after birth or later in infancy.

UAB Medicine operates a Marfan Syndrome and Related Disorders Clinic, which is a multi-specialty clinic that includes physicians from the UAB Department of Pediatric Cardiology and the UAB Department of Genetics. Services offered include physical exams, echocardiogram/EKG, and genetic testing for diseases and conditions of the aorta, when needed. The clinic’s genetic counselor works with patients to help them better understand their condition and evaluate their risk for medical issues based on genetic testing results.

Because Marfan syndrome can affect the heart, patient care also may be provided by the UAB Congenital Heart Disease Program. The program offers the most advanced care for congenital (present at birth) heart disease, which often requires lifetime monitoring and care. Our multi-specialty team of pediatric and adult cardiologists, cardiovascular surgeons, cardiovascular anesthesiologists, and maternal-fetal medicine specialists have unique expertise in treating patients before birth and into adulthood.

UAB Medicine’s modern ultrasound equipment allows many heart defects to be diagnosed before a child is born. Screening exams performed at 18-20 weeks are recommended for expecting mothers or fathers known to have congenital heart disease. If a defect is discovered, our experts provide prenatal treatment and develop a plan for delivery and treatment after birth.

Thanks to advances in pediatric congenital care, the life expectancy for most patients now reaches far into adulthood. However, more than half of the people with congenital heart problems stop seeing a cardiologist once they turn 18. UAB’s Alabama Adult Congenital Heart Disease Program is designed to prevent that gap in care. As the only adult congenital heart disease program in the state and one of only a few in the country, our expertise greatly increases the chances that symptoms will be identified early. This helps ensure that less serious problems are addressed before they develop into larger, more life-threatening issues such as heart failure, arrhythmia, residual congenital heart defects, endocarditis, and stroke.