Tetralogy of Fallot

An introduction to the Symptoms, Diagnosis and Treatment for Tetralogy of Fallot

Overview

Tetralogy of Fallot is a rare condition caused by a combination of four heart defects that are present at birth (congenital).

These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Tetralogy of Fallot is usually diagnosed during infancy or soon after. However, it might not be detected until later in life in some adults, depending on the severity of the defects and symptoms.

With early diagnosis followed by appropriate surgical treatment, most people who have Tetralogy of Fallot live relatively normal lives.

Many adults with repaired Tetralogy of Fallot will require another procedure or intervention during their lifetimes. It is important to have regular follow-up with a cardiologist trained in congenital heart disease who can evaluate you and determine the appropriate timing of another intervention or procedure. At the Irish Congenital Heart Centre, our specialists have trained in congenital heart disease and are expert at caring for people with Tetralogy of Fallot.

Tetralogy of Fallot

Symptoms

Tetralogy of Fallot symptoms vary, depending on the extent of obstruction of blood flow out of the right ventricle and into the lungs. Signs and symptoms may include:

  • A bluish coloration of the skin caused by blood low in oxygen (cyanosis)
  • Shortness of breath and rapid breathing, especially during feeding or exercise
  • Loss of consciousness (fainting)
  • Clubbing of fingers and toes — an abnormal, rounded shape of the nail bed
  • Poor weight gain
  • Tiring easily during play or exercise
  • Irritability
  • Prolonged crying
  • A heart murmur

An adult with repaired Tetralogy of Fallot they may still have signs and symptoms such as:

  • Shortness of breath
  • Palpitations
  • Dizziness or loss of consciousness
  • Heart Murmur

Diagnosis

Tests may include:

  • Echocardiogram: This uses high-pitched sound waves to produce an image of the heart. Sound waves bounce off the heart and produce moving images that can be viewed on a video screen. This test is generally used to diagnose tetralogy of Fallot. It allows your or your baby’s doctor to determine if there is a ventricular septal defect and where it’s located, if the structure of the pulmonary valve and pulmonary artery is normal, if the right ventricle is functioning properly, if the aorta is positioned properly, and if there are any other heart defects. This test can also help your doctor to follow up your heart health after a repair surgery.
  • Electrocardiogram: An electrocardiogram records the electrical activity in the heart each time it contracts. During this procedure, patches with wires (electrodes) are placed on your or your baby’s chest, wrists and ankles. The electrodes measure electrical activity, which is recorded on paper. This test helps determine if the right ventricle is enlarged (right ventricular hypertrophy), if the right atrium is enlarged and if the heart rhythm is regular.
  • Chest X-ray: A chest X-ray can show the structure of the heart and lungs. A common sign of tetralogy of Fallot on an X-ray is a “boot-shaped” heart, because the right ventricle is enlarged.
  • Oxygen level measurement (pulse oximetry): This test uses a small sensor that can be placed on a finger or toe to measure the amount of oxygen in the blood.
  • Cardiac catheterisation: Doctors may use this test to evaluate the structure of the heart and plan surgical treatment. During this procedure, your or your baby’s doctor inserts a thin, flexible tube (catheter) into an artery or vein in the arm, groin or neck and threads it up to the heart. Your or your baby’s doctor injects a dye through the catheter to make the heart structures visible on X-ray pictures. Cardiac catheterisation also measures pressure and oxygen levels in the chambers of the heart and in the blood vessels.

Treatment

Surgery is the only effective treatment for tetralogy of Fallot. Surgical options include intracardiac repair or a temporary procedure that uses a shunt. However, most babies and older children have intracardiac repair.

Your or your child’s doctors will determine the most appropriate surgery and the timing of the surgery based on your or your child’s condition.

Intracardiac repair

This open-heart surgery is usually done during the first year after birth and involves several repairs. Adults with tetralogy of Fallot rarely may undergo this procedure if they didn’t have surgical repair as children.

The surgeon places a patch over the ventricular septal defect to close the hole between the lower chambers of the heart (ventricles). They also repair or replace the narrowed pulmonary valve and widen the pulmonary arteries to increase blood flow to the lungs.

Because the right ventricle won’t need to work as hard to pump blood after this procedure, the right ventricle wall will go back to its normal thickness. After intracardiac repair, the oxygen level in the blood increases and symptoms will lessen.

After surgery

While most babies and adults do well after intracardiac repair, long-term complications are common.

Complications may include:

  • Chronic pulmonary regurgitation, in which blood leaks through the pulmonary valve back into the pumping chamber (right ventricle)
  • Other heart valve problems, such as blood leaking back through the tricuspid valve
  • Holes in the wall between the ventricles (ventricular septal defects) that may continue to leak after repair or may need re-repair
  • Enlarged right ventricle or left ventricle that isn’t working properly
  • Irregular heartbeats (arrhythmias)
  • Coronary artery disease
  • Aortic root dilation, in which the ascending aorta enlarges
  • Sudden cardiac death

Most adults with repaired Tetralogy of Fallot have some degree of pulmonary valve leakage (regurgitation) and may need to have the pulmonary valve replaced during their lifetimes. Your cardiologist will determine the most appropriate timing for this procedure.

Dr. Kenny, our cardiac interventionist, is an expert at minimally invasive (catheter based/percutaneous) pulmonary valve replacement. Mr. Nolke, our congenital heart surgeon, has vast experience at surgical pulmonary valve replacement.

Abnormal heart rhythms (arrhythmias) may also occur after repair. These can be treated with medications, a catheter procedure to treat the arrhythmias (ablation) or a special pacemaker device that treats life-threatening heart rhythms (implantable cardioverter-defibrillator, ICD). Dr. Lyne, our heart rhythm specialist, is an expert at both ablation procedures and pacemaker and ICD device implants.

Follow-up Care

After surgery, you or your child will need lifelong care with a cardiologist trained in treating congenital heart disease to monitor for any possible complications.

This will involve your doctor performing a physical examination and tests, such as an ecg, echo  and/or cardiac MRI to evaluate and monitor your or your child’s condition.

 

 

Conditions We Treat

Pulmonary Valve Stenosis

Pulmonary valve stenosis is a condition in which a deformity on or near your pulmonary valve narrows the pulmonary valve opening and slows the blood flow. The pulmonary valve is located between the lower right heart chamber (right ventricle) and the pulmonary arteries. Adults occasionally have pulmonary valve stenosis as a complication of another illness, but mostly, pulmonary valve stenosis develops before birth as a congenital heart defect. Pulmonary valve stenosis ranges from mild to severe. Mild pulmonary stenosis doesn't usually worsen over time, but moderate and severe cases may worsen and require surgery. Fortunately, treatment is generally highly successful, and most people with pulmonary valve stenosis can expect to lead normal lives. Find Out More >>

Patent Foramen Ovale

A patent foramen ovale (PFO) is a hole in the heart that didn't close the way it should have after birth. During fetal development, a small flap-like opening — the foramen ovale — is present in the wall between the right and left upper chambers of the heart (atria). It normally closes during infancy. When the foramen ovale doesn't close, it's called a patent foramen ovale. Patent foramen ovale occurs in about 25% of the normal population, but most people with the condition never know they have it. Learning that you have a patent foramen ovale is understandably concerning, but most people never need treatment for this condition. A patent foramen ovale is often discovered during tests for other problems. In certain conditions, such as unexplained strokes (cryptogenic stroke) in young people, closure might be recommended by your doctor. Find Out More >>

Tetralogy of Fallot

Tetralogy of Fallot is a rare condition caused by a combination of four heart defects that are present at birth (congenital). These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Tetralogy of Fallot is usually diagnosed during infancy or soon after. However, it might not be detected until later in life in some adults, depending on the severity of the defects and symptoms. With early diagnosis followed by appropriate surgical treatment, most people who have Tetralogy of Fallot live relatively normal lives. Many adults with repaired Tetralogy of Fallot will require another procedure or intervention during their lifetimes. It is important to have regular follow-up with a cardiologist trained in congenital heart disease who can evaluate you and determine the appropriate timing of another intervention or procedure. At the Irish Congenital Heart Centre, our specialists have trained in congenital heart disease and are expert at caring for people with Tetralogy of Fallot. Find Out More >>

Partial Anomalous Pulmonary Venous Return

Partial anomalous pulmonary venous return, sometimes called partial anomalous pulmonary venous connection, is a heart defect present at birth (congenital) in which some of the pulmonary veins carrying blood from the lungs to the heart flow into other blood vessels or into the heart's upper right chamber (right atrium), instead of correctly entering the heart's upper left chamber (left atrium). This causes some oxygen-rich blood from the lungs to mix with oxygen-poor blood before entering the right atrium. Some people with this defect also have a hole between the upper heart chambers (atrial septal defect), which allows blood to flow between the upper heart chambers (atria). People with this condition may also have other congenital heart defects. Find Out More >>

Ebstein Anomaly

Ebstein anomaly is a rare heart defect that's present at birth (congenital). In Ebstein anomaly, your tricuspid valve — the valve between the two right heart chambers (right atrium and right ventricle) — doesn't work properly. The tricuspid valve sits lower than normal in the right ventricle, and the tricuspid valve's leaflets are abnormally formed. Blood may leak back through the valve, making your heart work less efficiently. Ebstein anomaly may also lead to enlargement of the heart or heart failure. A significant proportion of people with Ebstein anomaly will also have a communication between the top two chambers of the heart - an atrial septal defect (ASD). Abnormal electrical activity of the heart, leading to abnormal heartbeats (arrhythmia) is also a common problem for people with Ebstein anomaly. If you have no signs or symptoms associated with Ebstein anomaly, careful monitoring of your heart may be all that's necessary. If signs and symptoms bother you, or if the heart is enlarging or becoming weaker, treatment for Ebstein anomaly may be necessary. Treatment options include medications and surgery. Find Out More >>

Atrial Septal Defect

An atrial septal defect (ASD) is a hole in the wall between the two upper chambers of your heart (atria). The condition is present at birth (congenital). Small defects may never cause a problem and may be found incidentally. It's also possible that small atrial septal defects may close on their own during infancy or early childhood. Large and long-standing atrial septal defects can damage your heart and lungs. An adult who has had an undetected atrial septal defect for decades may have a shortened life span from heart failure or high blood pressure that affects the arteries in the lungs (pulmonary hypertension). Surgery may be necessary to repair atrial septal defects to prevent complications. Find Out More >>

Atrioventricular Canal Defect

Atrioventricular canal defect is a combination of heart problems resulting in a defect in the centre of the heart. The condition occurs when there's a hole between the heart's chambers and problems with the valves that regulate blood flow in the heart. Sometimes called endocardial cushion defect or atrioventricular septal defect, atrioventricular canal defect is present at birth (congenital). The condition is often associated with Down Syndrome. Atrioventricular canal defect allows extra blood to flow to the lungs. The extra blood forces the heart to overwork, causing the heart muscle to enlarge. Untreated, atrioventricular canal defect can cause heart failure and high blood pressure in the lungs. Doctors generally recommend surgery during the first year of life to close the hole in the heart and to reconstruct the valves. Find Out More >>

Bicuspid Aortic Valve

Bicuspid aortic valve is the commonest form of congenital heart disease. Approximately 1% of the population are born with this condition. A bicuspid aortic valve is an aortic valve that has only two leafelts (bicuspid) instead of the normal three leaflets (tricuspid) . Some people may also be born with one (unicuspid) or four (quadricuspid) leaflets, but these are rare. A bicuspid aortic valve may cause the heart's aortic valve to narrow (aortic valve stenosis). This narrowing prevents the valve from opening fully, which reduces or blocks blood flow from the heart to the body. In some cases, the bicuspid aortic valve doesn't close efficiently, causing blood to leak backward into the left ventricle (aortic valve regurgitation). Some people with a bicuspid aortic valve may develop an enlarged aorta — the main blood vessel leading from the heart (see also  our Aortopathy section) Most people with a bicuspid aortic valve aren't affected by valve problems until they are adults, and some may not be affected until they are older adults. However if you are known to have a biscupid aortic valve, you should be followed up by a cardiologist at regular intervals. Find Out More >>

Coarctation of the Aorta

Coarctation of the aorta — or aortic coarctation — is a narrowing of the aorta, the large blood vessel that branches off your heart and delivers oxygen-rich blood to your body. When this occurs, your heart must pump harder to force blood through the narrowed part of your aorta. Coarctation of the aorta is generally present at birth (congenital). The condition can range from mild to severe, and might not be detected until adulthood, depending on how narrowed the aorta is. Coarctation of the aorta often occurs along with other heart defects. While treatment is usually successful, the condition requires careful lifelong follow-up. Find Out More >>

Ventricular Septal Defect

A ventricular septal defect (VSD) is a type of hole in the heart. It is present at birth (congenital). The hole (defect) occurs in the wall (septum) that separates the heart's lower chambers (ventricles) and allows blood to pass from the left to the right side of the heart. This means that oxygen-rich blood then gets pumped back to the lungs instead of out to the body, causing the heart to work harder. A small ventricular septal defect may cause no problems, and many small VSDs close on their own. Medium or larger VSDs may need surgical repair early in life to prevent complications. Find Out More >>

Transposition of the Great Arteries

Transposition of the great arteries is a serious but rare heart defect present at birth (congenital), in which the two main arteries leaving the heart are reversed (transposed). The condition is also called dextro-transposition of the great arteries. A rarer type of this condition is called levo-transposition of the great arteries. Transposition of the great arteries changes the way blood circulates through the body, leaving a shortage of oxygen in blood flowing from the heart to the rest of the body. Without an adequate supply of oxygen-rich blood, the body can't function properly and your child faces serious complications or death without treatment. Transposition of the great arteries is usually detected either prenatally or within the first hours to weeks of life. Corrective surgery soon after birth is the usual treatment for transposition of the great arteries, and with proper treatment, the outlook is promising. Even when this condition is diagnosed and treated early in childhood, there is a potential to develop complications later in life. All people with Transposition of the Great Arteries should have lifelong follow up with a congenital heart specialist. Our experts at the Irish Congenital Heart Centre are trained in congenital cardiology and have vast experience in treating people with Transposition of the Great Arteries. Find Out More >>

Hypoplastic Left Heart Syndrome

Hypoplastic left heart syndrome is a complex and rare heart defect present at birth (congenital). The left side of the heart is critically underdeveloped in hypoplastic left heart syndrome. If your baby is born with hypoplastic left heart syndrome, the left side of the heart can't effectively pump blood to the body. Instead, the right side of the heart must pump blood to the lungs and to the rest of the body. Medication to prevent closure of the connection (ductus arteriosus) between the right and left sides, followed by either surgery or a heart transplant, is necessary to treat hypoplastic left heart syndrome. With advances in care, the outlook for babies born with hypoplastic left heart syndrome is better now than in the past. All people who are born with hypoplastic left heart syndrome will have undergone multiple complex cardiac surgeries and require lifelong follow up by a specialist congenital heart expert. Find Out More >>

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