Tetralogy of Fallot (TOF) is a group of four congenital (present at birth) heart defects that occur together:

• Pulmonary stenosis (narrowed pulmonary valve)
• Ventricular septal defect (hole in the wall between the heart’s lower chambers)
• Overriding aorta (aortic valve positioned halfway between the two ventricles)
• Right ventricular hypertrophy (thickened right ventricle wall)

Historically, children born with TOF didn’t live long enough to need care as adults. However, new treatment technologies are making it possible for these children to live full, active lives.

Even when TOF is treated in childhood, lifelong care and vigilance are necessary, explains Ari Cedars, M.D., cardiologist and director of the Adult Congenital Heart Disease Center at the Johns Hopkins Heart and Vascular Institute and the Blalock-Taussig-Thomas Pediatric and Congenital Heart Center. “It’s a misconception to think that after a repair in childhood, you’re fixed and don’t need further care.”

The Role of the Adult Congenital Heart Specialist in TOF

In the past, adults with congenital heart defects like tetralogy of Fallot had two choices for care: Stay in the care of their pediatric cardiologist or transition to a general cardiologist. However, both options present problems. “The congenital cardiac abnormalities are often unfamiliar to the average adult cardiologist,” says Cedars. On the other hand, pediatric cardiologists may be uncomfortable treating conditions that adults can develop, such as high blood pressure, coronary artery disease or even pregnancy.

To address this gap in care, there is now an emerging field of medicine dedicated to adults living with TOF and other congenital heart defects. These specialized adult congenital cardiologists combine the care provided by both pediatric cardiologists and adult cardiologists.

Adult congenital heart specialists can address the unique cardiac needs of adults at every stage of life and determine whether additional treatment may be necessary. They help manage the following issues:

• Deterioration of childhood heart repairs
• Pregnancy
• Acquired conditions, such as heart disease or high blood pressure

Deterioration of Childhood Heart Repairs

Most children born with tetralogy of Fallot are treated with a corrective repair. This repair involves a patch to close the septal defect and enlargement of the pulmonary valve to facilitate blood flow to the lungs. The patch stays in place permanently, though in rare cases it can leak later in life. In contrast, the enlarged pulmonary valve is often regurgitant (meaning blood the heart pumps leaks backward into the heart).

“No matter what kind of repair someone has had, it’s prone to deteriorate in some way or cause some other unanticipated problem,” says Cedars. He stresses that one of the primary roles of an adult congenital heart specialist is to monitor this regurgitation of blood into the heart with periodic echocardiograms, MRIs or a Holter monitor.

Left untreated, severe regurgitation can lead to long-term damage such as heart failure or permanent ventricular dysfunction. Most adults with TOF will eventually need a valve replacement for regurgitation. This surgery isn’t done during childhood because artificial valves don’t grow with a child’s body.

An adult congenital heart specialist determines the right time for valve replacement. “Valves only last 10 to 15 years,” says Cedars. “If we can delay valve replacement and maintain heart function, we can reduce the number of surgeries a patient needs in their lifetime.”

Congenital heart specialists look for the following issues when determining the right time for valve replacement:

• Heart failure symptoms
• Progressive ventricular dysfunction
• Severe pulmonary regurgitation

Many people will be candidates for minimally invasive transcatheter pulmonary valve replacement (TPVR).

Pregnancy and Congenital TOF

When a woman with a congenital heart defect like TOF is ready to have children, it’s extremely important to monitor her closely. Pregnancy, labor and delivery can put a dangerous amount of strain on an already compromised heart.

“Most women with congenital heart disease can safely and successfully bear children,” Cedars explains. “But to make sure that pregnancy progresses as smoothly as possible for both mother and child, it’s important to have a planned approach to pregnancy.”

An adult congenital heart specialist may recommend valve replacement surgery before pregnancy. Genetic testing is also important to determine the risk of passing a genetic heart defect on to the baby. During pregnancy, the baby will need to be monitored closely with prenatal tests and ultrasounds.

Acquired Heart Conditions and TOF

A variety of heart conditions can develop as adults age, including high blood pressure, high cholesterol and coronary artery disease. When someone has a preexisting congenital heart defect like TOF, it is especially important to monitor and treat these conditions. Acquired heart issues on top of existing TOF increase a person’s risk of developing heart failure and potentially dangerous abnormal heart rhythms.

Prevention is the best way to avoid complications from acquired heart conditions. People with TOF should begin transition education as teens, and transfer care to an adult congenital provider as early in adulthood as possible to avoid gaps in care. Your doctor can advise you about healthy lifestyle practices, such as diet and exercise, to maintain overall heart health.

Tips for Long-Term Management of Congenital TOF in Adults

Cedars recommends scheduling at least one consultation with the nearest adult congenital cardiologist, even if it means traveling. That doctor can coordinate monitoring and care with your regular cardiologist at home. Cedars also encourages adults with TOF to get annual echocardiograms, regardless of whether they’re experiencing problems. “People with TOF now have normal life expectancies,” he emphasizes. “With the right treatments, they can do all the things that healthy people can do.”