An atrial septal defect (ASD) is a hole in the septum that divides the upper chamber of the heart. In most patients this causes increased blood flow to the lungs and enlargement of the right heart chambers (right atrium and right ventricle).

Outlook into Adulthood

If left untreated, ASDs can cause problems in adulthood, including pulmonary hypertension (high blood pressure in the lungs), congestive heart failure (weakening of the heart muscle), atrial arrhythmias (abnormal beating of the heart) and an increased risk of stroke.

Adults who have had an ASD closed or repaired surgically need periodic evaluation depending on their personal circumstances. For patients who had a device closure of an ASD, it is recommended that they have an echo every five years to screen for complications of the device. Patients who had high blood pressure in their lungs before the ASD was closed should be followed periodically. Other adults who have had rhythm problems such as atrial flutter or atrial fibrillation may require ongoing monitoring and treatment.

An atrioventricular septal defect, or AV canal, is a heart defect involving the valves between the upper and lower chambers of the heart and the walls between the chambers. Also known as atrioventricular canal defects or endocardial cushion defects, AVSDs account for about 5% of all congenital heart disease. They are most common in infants with Down syndrome.

Outlook into Adulthood

Most adult patients with an AVSD have had surgical repair and continue to do well for the rest of their lives. Patients should be monitored periodically because of the potential problems of a leaky or narrow “mitral” valve, subaortic stenosis, high blood pressure in the lungs and heart rhythm problems. A small minority of patients will require reoperation as adults because of these problems.

A ventricular septal defect (VSD) is a very common congenital anomaly. In a VSD, there is a hole in the part of the heart that separates the two main pumping chambers, allowing blood to flow between the heart chambers. If the hole is small, blood flows from the left heart through the right heart to the lungs, but the amount is small enough that the hole does not need to be closed.

Outlook into Adulthood

Patients with such small VSDs have two major risks:

1. Infective endocarditis, an infection of the heart that can be fatal if not properly recognized and treated

2. Leakage of the aortic valve, which may eventually require surgical repair or replacement

If a patient’s small VSD does not eventually close on its own, it is unlikely to cause long-term difficulties. However, depending on the location of the hole, lifelong follow-up may be required.

If a patient had a large VSD that has not been repaired by the time they become an adult, they will usually have high blood pressure in the lungs and will have developed Eisenmenger syndrome, a condition in which the blood pressure in the lung becomes so high that blue blood starts to mix with red blood, causing the patient to develop a bluish tinge to the skin and other features.

If a large VSD is diagnosed and managed appropriately during childhood, the patient can expect to have a normal length of life with no restrictions.

VSDs can also occur in combination with other congenital heart abnormalities, or even be a part of such an abnormality as is the case in Tetralogy of Fallot, where a VSD is one of the four abnormalities making up the condition.

Pulmonary atresia (PA) is a complicated congenital defect that occurs due to abnormal development of the fetal heart during the first eight weeks of pregnancy. With PA, problems with valve development prevent the heart’s leaflets from opening. Therefore, blood cannot flow forward from the right ventricle to the lungs.

Outlook into Adulthood

There are two characteristics of adults with pulmonary atresia:

1. They have not had surgical correction of their congenital heart defect, and therefore they are blue or cyanotic. All cyanotic patients require careful surveillance and management by congenital heart experts.

2. Some patients who had pulmonary atresia will have had a surgical correction and require lifelong surveillance by congenital heart experts.

Tetralogy of Fallot (TOF) is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects are:

1. Ventricular septal defect (VSD)
2. Overriding aorta, in which the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of just the left ventricle, as in normal hearts
3. Pulmonary stenosis, the narrowing of the pulmonary valve and outflow tract or area below the valve that creates an obstruction (blockage) of blood flow from the right ventricle to the pulmonary artery
4. Right ventricular hypertrophy, the thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure

Outlook into Adulthood

Most adult patients with Tetralogy of Fallot have been repaired in childhood. They began life as a “blue baby,” and the surgery almost always has made them pink. The results of surgery in some patients are excellent and they have no ongoing problems. Unfortunately, the majority do have issues; the most important one is leakage of the pulmonary valve or so-called “pulmonary regurgitation.” This can enlarge the right heart chambers and lead to limitations in physical activity as well as heart rhythm abnormalities and, occasionally, sudden cardiac death.

Most patients with repaired tetralogy should have regular (usually annual) evaluation by a congenital heart expert. Pulmonary regurgitation can be treated with a tissue valve replacement. This is usually a low-risk procedure that can allow the heart to shrink again and improve the patient’s quality of life and life expectancy. These artificial pulmonary valves usually last many years in adult patients, but require expert surveillance. Fortunately, if these valves now fail, they can be replaced using valves inserted through catheters (e.g., the Melody valve) rather than at reoperation.

Some adults with tetralogy have a genetic basis for the condition. It’s important that this be identified so that other manifestations of their genetic abnormality can be managed properly.

In cases of transposition of the great arteries, the aorta and the pulmonary arteries (major carriers of blood away from the heart) arise from the wrong ventricle. They are “transposed” from their normal position so that the aorta arises from the right ventricle and the pulmonary artery from the left ventricle.

Outlook into Adulthood

All patients with transposition of the great arteries require lifelong surveillance by a congenital heart expert.

• If they have had a Mustard or Senning procedure, they may have issues with slow heart rates, abnormally fast heart rates, pumping chamber weakness, leaky valves and technical issues related to the surgical repair. These patients may require pacemakers. Expert assessment is usually recommended on an annual basis.
• Some patients who have had an arterial switch procedure will have problems with reimplanted coronary arteries, leaky valves or enlarged arteries. Again, expert surveillance is recommended.
• Patients who have undergone a Rastelli repair have an implanted tube called a “valved conduit” that connects the right ventricle to the pulmonary artery. The conduit may malfunction over time. Many conduit problems can be fixed in the heart catheterization laboratory using stents and/or tissue valves implanted without surgery.

Coarctation of the aorta is a narrowing of the aorta, the main blood vessel carrying oxygen-rich blood from the left ventricle of the heart to all of the organs of the body.

Outlook into Adulthood

Most adults born with aortic coarctation will have had repair in childhood. These patients require lifelong periodic monitoring by a congenital heart specialist, as narrowing of the aorta may recur or may not have been fully repaired.

Tricuspid atresia is a type of congenital heart defect in which the valve between the right atrium and right ventricle fails to develop.

Outlook into Adulthood

There are two characteristics of adults with tricuspid atresia:

1. Their skin is still blue or cyanotic. Such patients will likely have problems and require lifelong expert surveillance and management.
2. They have had a Fontan procedure that made their skin pink, but they have only one pumping chamber in their heart. As they age, many problems can occur, and Fontan patients need careful surveillance throughout their lives. Many Fontan patients will have abnormal heart rhythms that require treatment, low oxygen levels in their blood limiting their physical abilities, weakening of their pumping chamber or leakage of one or more valves. Fontan patients may also develop problems with liver or kidney function.

Ebstein’s anomaly is an abnormality in the tricuspid valve in which two leaflets of the tricuspid valve are displaced downward into the pumping chamber. The third leaflet is elongated and may be tethered to the wall of the chamber.

Rarely, the valve is so deformed that it will not allow blood to flow easily forward in the normal direction (right atrium to right ventricle). More commonly, these abnormalities cause the tricuspid valve to leak blood backward into the right atrium when the right ventricle contracts. As a result, the right atrium becomes enlarged. If the tricuspid leak is severe enough, congestive heart failure can result.

Outlook into Adulthood

Ebstein’s anomaly can be diagnosed at any age. While people with the mildest form of the condition may not experience any problems, some individuals develop heart rhythm problems; these become more common as they age. Over time, limitation of physical activity is also common.

All Ebstein’s patients require lifelong follow-up. Many will need treatment for rhythm problems, including ablation procedures. If surgery is required, it should be performed by congenital heart surgeons with a particular interest in and success with Ebstein’s surgery.

Normally, there are two main blood vessels leaving the heart: the aorta, which carries blood to the body, and the pulmonary artery, which carries blood directly to each lung.

Instead of having a separate pulmonary artery and aorta, each with its own three-leafed valves, a baby with truncus arteriosus has only one great blood vessel leaving the heart, which then branches into blood vessels that go to the lungs and the body.

Outlook into Adulthood

There are two characteristics of adults with truncus arteriosus:

1. They are still blue or cyanotic, and they almost always have very high blood pressure in their lungs. Such patients will have problems and require lifelong expert surveillance and management.
2. Malfunctioning or failing “valve conduits,” which connect the right heart chambers to the pulmonary arteries, can occur after surgical repair in childhood. This requires expert assessment and judgment as to how best to manage. Many post-surgical patients have residual abnormalities of their aortic valve, which could lead to the need for valve replacement.

Some adults with truncus arteriosus have a genetic basis for the condition. It’s important that this be identified so that other manifestations of their genetic abnormality can be managed properly.

In addition to the conditions above, Cincinnati Children’s ACHD team also treats the following conditions:

• Septal defects
• Congenital valve defects
• Fontan circulation
• Heterotaxy syndrome
• Mitral valve defects
• Multi-organ function and dysfunction in complex congenital heart disease
• Pulmonary hypertension (severe)
• Pulmonary valve defects
• Single ventricle physiology
• Subaortic stenosis
• Tricuspid valve defects
• Cyanotic defects
• Anomalous pulmonary venous connection
• Eisenmenger syndrome