Adult Congenital Heart Disease (CHD)

Pulmonary venous anomalies may occur in isolation or in combination with other types of congenital heart defects. There can be varying numbers and combinations of venous anomalies, usually in specific patterns, ranging in severity from mild to very complex.

In total anomalous pulmonary venous return (TAPVR), all four pulmonary veins carrying oxygenated blood from the lungs return to the right heart through persistent venous channels, making the newborn appear blue, or cyanotic. The prognosis of the infant is dependent on multiple factors, including where the anomalous veins return and whether or not the veins are obstructed or patent (open). Partial anomalous pulmonary venous return refers to the condition when less than four of the pulmonary veins return to the right heart.

Treatment of pulmonary venous anomalies depends on the location and extent of defect. Early complete surgical repair is warranted. During surgery, the pulmonary veins are redirected to connect to the left atrium and the defect between the right and left atrium is closed.

Single anomalous pulmonary veins are likely to be completely asymptomatic, often diagnosed incidentally at older ages. In isolation, no intervention is required.

The aortic valve is the valve between the main pumping chamber (the left ventricle) and the aorta, which carries oxygenated blood to the brain and body. Aortic stenosis refers to an obstruction of blood flow across the aortic valve. Symptoms of this congenital heart defect can be variable with severe forms presenting in the newborn period with cyanosis (bluish discoloration of the skin caused by lack of oxygen in the bloodstream) and poor cardiac output. Other symptoms may include lethargy, poor feeding, sweating with feeds, increased respiratory effort or poor weight gain.

Mild to moderate symptoms of aortic stenosis may not require any treatment other than routine monitoring by a health care provider. Medication is not a cure for aortic valve stenosis, but can be helpful in managing specific symptoms of heart failure and abnormal heart rhythms (atrial fibrillation).

Interventional catheterization/balloon valvuloplasty is the most common procedure used to treat aortic stenosis. Another option is valve replacement surgery using either a mechanical valve or donor valve. Both have shown an excellent success rate and a low incidence of complications.

Aortopulmonary window refers to a defect between the wall of the aorta and the pulmonary artery that leads to the lungs. Symptoms in infants include heart failure with tachypnea, sweating with feeds and poor weight gain.

Coronary artery anomalies are often seen with aortopulmonary windows. Left undiagnosed and uncorrected, these lesions may cause pulmonary arterial hypertension (high blood pressure in the lungs) with resulting cyanosis (bluish discoloration of the skin caused by lack of oxygen in the bloodstream) in older age groups.

Treatment for aortopulmonary window includes closing the hole between the aorta and the pulmonary artery with a patch. Usually, this surgery is done as soon as possible after the diagnosis is made, when the child is a newborn. Surgery to fix an aortopulmonary window is successful in most cases, if the defect is treated quickly.

In adult patients with AP window, a cardiac catheterization may be warranted to document the size of the defect and the relative pressures in the pulmonary artery. When possible, an operation to close the defect is performed. The patient may require ongoing treatment for pulmonary hypertension.

The heart rhythm is a fine tuned, elaborate electrical system comprised of specialized cardiac cells which coordinate the contractions of the upper and lower chambers of the heart. Arrhythmia refers to an abnormal rhythm in the heart. Arrhythmia can be characterized as slow (bradyarrhythmia) or rapid (tachyarrhythmia).

The Electrophysiology Program of Cook Children's Heart Center provides comprehensive evaluations and treatment strategies for all forms of arrhythmias and heart rhythm abnormalities. Arrhythmias may be managed medically, employing pharmacologic agents to control the rate and/or rhythm. Occasionally, at the discretion of the electrophysiologist, the abnormal rhythms can be permanently treated with ablation using freezing energy (cryoablation) or heating energy (radiofrequency ablation). Ablations are performed in the cardiac catheterization laboratory using special catheters to identify the specific location/origin of the abnormal rhythm.

Atrial septal defects (ASDs) refer to a hole in the heart's wall, or septum, which separates the right and left atriums. Often asymptomatic, the diagnosis is made in the outpatient clinic due to the presence of a cardiac murmur or abnormal heart sounds.

Small atrial septal defects will often close spontaneously and require no intervention. Larger atrial septal defects may require closure either in the cardiac catheterization laboratory or with surgical strategies. A septal occluder device is inserted into the damaged area through a catheter. The device is then opened to effectively close the hole. The device remains in the heart permanently.

The age at presentation often determines the co-morbidities associated with the ASD. Late presentation of an ASD may present with right ventricular function disturbances, pulmonary arterial hypertension and/or rhythm disturbances. Atrial fibrillation is often seen in late presentations and coordination of care with the electrophysiologist is paramount prior to closure of the defect.

Atrioventricular canal defect (AV canal defect) refers to a large hole in the center of the heart, creating a communication between all four chambers of the heart. The presentation of this congenital heart defect is similar to large ventricular septal defects with tachypnea, sweating with feeds and poor weight gain. atrioventricular canal defects are often associated with trisomy 21 (Down syndrome), although patients with atrioventricular canal defects may also have normal chromosomes.

There are several variations on the types of atrioventricular canal defects, all of which require an operation. The surgery is usually performed around 3-6 months of age, sometimes earlier depending on the case. Lifelong monitoring is required due to related valve problems and possible development of left ventricular outflow obstruction.

Bacterial endocarditis is a rare, but serious, infection in the heart and/or valves. While this infection is usually associated with certain types of congenital heart defects, it can also occur in structurally normal hearts. Endocarditis may occur in the post-operative setting, affecting newly placed prosthetic valves and/or patch material. Although rare, the infection is quite serious and requires a long course of intravenous antibiotics over approximately 6 weeks.

Prevention of bacterial endocarditis is indicated in a subset of congenital heart defects. Your cardiologist will tell you if and when you require prophylactic antibiotics prior to other medical care including dental visits or invasive gastrointestinal or urological procedures.

The aortic valve is the valve between the main pumping chamber (the left ventricle) and the aorta, which carries oxygenated blood to the brain and body. The aortic valve normally has three leaflets which serve as a one-way valve to allow blood through to the aorta and prevent it from leaking back into the pumping chamber.

Bicuspid aortic valve refers to aortic valves that have only two leaflets. Over time, the valve can become stenotic, resulting in varying degrees of obstruction across the valve. Additionally, the valve may begin to leak. The left ventricular function may be impaired with deterioration of valve function. The ascending portion of the aorta may also dilate. Usually, the diagnosis of a bicuspid aortic valve is made secondary to the presence of a cardiac murmur or in combination with other defects such as coarctation of the aorta. Patients with Turner syndrome (a congenital syndrome affecting females that often includes major heart defects) have an increased incidence of bicuspid aortic valve. Bicuspid aortic valves are also seen in increased incidence in patients with coarctation of the aorta.

Treatment of mild to moderate stenosis includes medical management of blood pressure, heart failure, if present, and observation and serial evaluation of the pressure gradient across the stenotic valve. If moderate to severe stenosis, balloon angioplasty versus replacement may be considered.

If only regurgitant lesions are present, (aortic insufficiency) serial follow-ups of left ventricular function and dimensions with aortic valvuloplasty and/or replacement as possible options.

Aortic root dilatation can occur with bicuspid aortic valves. This would be followed serially with aortic root/ascending aorta replacement as a surgical option when over 5 cm.

Coarctation of the aorta refers to an obstruction in the aorta, the main artery carrying oxygenated blood to the body. Coarctation of the aorta often occurs in isolation, but may be associated with other types of congenital heart disease. The presentation of coarctation is variable. In the newborn period, the infant may have signs of deteriorating ventricular function or cyanosis (bluish discoloration of the skin caused by lack of oxygen in the bloodstream). The pulses in the lower extremities may be reduced or absent. Some children may not have symptoms in infancy. Older children and adolescents can be diagnosed with coarctation of the aorta. Sometimes this is due to high blood pressure or an unexplained cardiac murmur.

Most newborns with symptoms will have surgery either right after birth or soon afterward. Medication may be necessary to stabilize the infant prior to surgical correction. Either cardiac catheterization or open-heart surgery is performed, depending on the severity of the narrowing and on other factors such as the child's age and overall health. The narrowed section of the aorta is removed and the two ends of the aorta are sewn back together.

Following surgical intervention, lifelong monitoring is required. Complications may include aortic dissection, re-coarctation or aortic aneurysm at the suture site. Patients often continue to have high blood pressure requiring medication following repair.

Double outlet right ventricle is a complex congenital heart defect where the pulmonary artery and the aorta--the two great vessels--arise from the right ventricle.

Double outlet right ventricle cannot close spontaneously. It requires surgical repair, which type and timing depends on the:

• The size and location of the ventricular septal defect
• The amount, if any, of pulmonary stenosis
• The anatomic relationship of the great vessels

Patients with double outlet right ventricle can present in several different ways, all related to their unique individual anatomy. Some will present like a large ventricular septal defect with feeding difficulty, poor weight gain and rapid breathing. Others will present with cyanosis, either related to right ventricular outflow obstruction (similar to Tetralogy of Fallot) or a subpulmonary defect (similar to D- transposition of the great arteries).

Ebstein's anomaly is a rare congenital heart defect affecting the tricuspid valve, the valve between the right atrium and the right ventricle. The valve is malformed and positioned too low causing varying degrees of leaking. This results in an enlarged right atrium and may present with congestive heart failure or cyanosis (bluish discoloration of the skin caused by lack of oxygen in the bloodstream). Other associated defects may occur including atrial septal defects and pulmonary stenosis. A small subset of patients with Ebstein's anomaly may have abnormal heart rhythms requiring intervention.

Medication is used to treat the milder forms of Ebstein's anomaly associated with congestive heart failure and arrhythmias. Surgical intervention is required for treating severe cases. Surgical techniques include tricuspid valve repair or replacement. Rhythm disturbances can be managed definitively with ablation.

Hypoplastic left heart syndrome is a complex form of congenital heart disease comprised of a constellation of findings resulting in small left-sided heart structures. The left ventricle, which needs to be strong enough to support the infant's circulation, is underdeveloped and cannot function effectively. Other left-sided structures, including the mitral valve, aortic valve and ascending aorta can be underdeveloped in varying degrees. The infant is cyanotic (bluish discoloration of the skin caused by lack of oxygen in the bloodstream) and requires intensive support prior to intervention.

A staged surgical approach requiring multiple operations is required. Often, cardiac catheterization is required prior to each operation to assess the child's circulation.

• Stage 1: Norwood procedure – establishment of stable pulmonary blood flow and re-creation of a new aorta.
• Stage 2: Bi-directional cavopulmonary anastomosis – removes excess volume on the single systemic ventricle while establishing the first of two operations to permanently allow blue blood to go to the lungs. This is done by disconnecting the superior vena cava from the right atrium and connecting it to the pulmonary artery. The blood flows to the lungs via a passive process, dependent on low pulmonary artery pressures.
• Stage 3: Fontan (operation). Completion of the Fontan represents a complete separation of the systemic venous blood from the heart. The inferior vena cava is separated from the right atrium and connected to the pulmonary artery. Occasionally, a small hole called a fenestration is placed between the conduit and the right atrium to aid in the post-operative recovery process. Later, this fenestration can be closed in the cardiac catheterization laboratory with a device (same one employed in atrial septal defect closure).

The patent (open) ductus arteriosus is a normal structure in fetal life that connects the pulmonary artery and the aorta. In most infants, the ductus arteriosus closes spontaneously. In a subset of children, the ductus arteriosus remains open, allowing oxygenated blood to return to the lungs. In the presence of a large patent ductus arteriosus, the child may present with tachypnea, difficulty feeding or poor weight gain. In small PDAs, the child may be virtually asymptomatic, presenting with a cardiac murmur.

A small PDA may close spontaneously. Correction of a PDA can be performed in the cardiac catheterization laboratory using a catheter approach or in the operating room using the traditional surgical approach. This decision of which approach to use is often made based on the size and age of the child and the parent's preference.

The pulmonary artery carries de-oxygenated, "blue" blood to the lungs. Usually, the pulmonary artery is a low pressure/low resistance system. Pulmonary hypertension refers to an elevation in the pulmonary artery pressure. This is a multi-factorial condition that occasionally can be caused by unrepaired congenital heart disease.

Concomitant with high pulmonary artery pressures, the right ventricular function may be affected. Medical management of right ventricular failure is often needed. Patients with pulmonary arterial hypertension may require frequent cardiac catheterization to aid in adjusting medical therapy.

Treatment is provided based on the underlying cause of the elevated blood pressure in the lungs. Treatment options include medications and atrial septosomy for severe cases of pulmonary hypertension.

The pulmonary valve is the valve between the right ventricle and the pulmonary artery through which de-oxygenated blood is delivered to the lungs. Pulmonary stenosis refers to an obstruction at the pulmonary valve. The obstruction can range from mild to severe. Individuals with mild to moderate pulmonary stenosis may present with a cardiac murmur. In severe cases, the right ventricle is unable to send enough de-oxygenated blood to the lungs, resulting in cyanosis (bluish discoloration of the skin caused by lack of oxygen in the bloodstream).

Patients with mild pulmonary stenosis often do not require any intervention. Annual monitoring is warranted to make sure that there has been no progression in the degree of obstruction.

Moderate and severe pulmonary stenosis require intervention, usually in the cardiac catheterization laboratory. Balloon pulmonary valvuloplasty is employed in the cardiac catheterization laboratory to relieve the obstruction at the pulmonary valve. Occasionally, more than one procedure is required. In the event that the obstruction is not amenable to a balloon pulmonary valvuloplasty, surgery is necessary to relieve the obstruction.

Many forms of congenital heart disease present with only one functional pumping chamber (ventricle). These forms of congenital heart disease comprise the most serious, complex types. Examples include tricuspid atresia, hypoplastic left heart syndrome (HLHS), pulmonary atresia with intact ventricular septum, mitral atresia (often associated with HLHS), unbalanced atrioventricular canal defects and double-outlet right ventricle.

In most cases, a staged surgical palliation (Fontan pathway) is used to separate the blue blood returning from the body from the heart and allowing it to flow directly to the lungs. Often, two operations are required to accomplish this task.

Tetralogy of Fallot (ToF) is a complex form of congenital heart disease resulting in four main congenital heart defects:

• Ventricular septal defect (VSD)
• Override of the aorta over the VSD
• Right ventricular outflow tract obstruction
• Right ventricular hypertrophy

Tetralogy of Fallot can have varying degrees of right ventricular outflow obstruction, which, in turn, will cause varying degrees of cyanosis (bluish discoloration of the skin caused by lack of oxygen in the bloodstream).

Treatment of Tetralogy of Fallot usually requires at least one surgery before the first year of life. Lifelong monitoring is required due to the increased incidence of arrhythmia, exercise intolerance and reduced right ventricular function.

Transposition of the great arteries is rare, but considered to be among the most common types of cyanotic (bluish discoloration of the skin caused by lack of oxygen in the bloodstream) congenital heart disease.

In transposition of the great arteries, the origins of the great vessels are reversed when compared to normal hearts. The oxygen-poor blood returns to the right atrium and then to the right ventricle where it is then delivered back to the body through the aorta. The oxygen-rich blood returns from the lungs to the left atrium and then to the left ventricle where it is delivered back to the lungs through the pulmonary artery. Due to the parallel circuits, there is inadequate delivery of oxygen-poor blood to the lungs and oxygen-rich blood to the body. The oxygen-poor blood is unable to support the normal metabolic functions of the body and, unless corrected, is unable to support life.

Urgent intervention is often required, usually in the form of a balloon atrial septostomy. This is done via a bedside procedure, where a balloon attached to a catheter is used to create a hole between the upper chambers of the heart. Surgical correction is performed a few days later. Following surgery, most children with transposition of the great arteries have a normal childhood and grow normally.

Lifelong monitoring is required due to the possibility of leaky heart valves, arrhythmias, coronary artery stenosis and other heart problems.

Tricuspid atresia is a congenital heart defect manifested by the absence of the tricuspid valve, which is normally located between the right atrium and the right ventricle. This results in underdevelopment of the right ventricle, which cannot adequately pump oxygen-poor blood to the lungs. The oxygen-poor ("blue") blood crosses a hole between the upper chambers of the heart and mixes with oxygen-rich blood resulting in low oxygen levels in the child.

Additional secondary defects found in tricuspid atresia include:

• atrial septal defects
• ventricular septal defects
• pulmonary stenosis
• transposition of the great arteries

The presentation and treatment strategies are dependent on the associated defects. Most patients with tricuspid atresia require a staged surgical palliation called a Fontan operation.

In the developing embryo, the great arteries begin as a single tube called the truncus arteriosus, which eventually divides into the aorta and the pulmonary artery. Failure to divide properly, or at all, results in a single great vessel arising from the pumping chambers. A large ventricular septal defect is a universal feature of truncus arteriosus.

The surgical correction involves closure of the ventricular septal defect, separation of the pulmonary arteries from the truncus arteriosus and creation of a new conduit from the right ventricle to the pulmonary arteries.

Long term follow-up is required due to leaky valves, obstruction to right ventricular outflow and pulmonary hypertension.

Vascular rings are a result of abnormal formation of the aortic arch and its surrounding blood vessels. The abnormal arrangement of blood vessels creates a ring around the esophagus and the trachea (windpipe). The most common symptoms are stridor (noisy breathing), wheezing, chronic cough, swallowing difficulties or repeat respiratory infections. Often, these vascular ring symptoms are encountered early on in life. However, in some cases, the symptoms may not be realized or diagnosed until adolescence or adulthood. Varying degrees of symptoms are reported, depending on the type of vascular ring encountered.

Surgery is the treatment of choice. Dividing the vascular ring and releasing the compression on the esophagus and the trachea relieves the symptoms. Lingering issues may be present related to underdevelopment of the trachea due to the compression.

Ventricular septal defect (VSD) is the most common form of congenital heart disease. VSDs are holes in the wall, or septum, between the two pumping chambers of the heart. The size and location of the ventricular septal defect will determine the type and severity of the symptoms.

In patients with VSD, the oxygen-rich blood can cross the hole and return to the lungs through the pulmonary artery. This puts tremendous pressure and extra volume on the lungs and heart and may result in rapid or heavy breathing, disinterested feeding, sweating or tiring with feeds and poor weight gain.

Some small ventricular septal defects will close spontaneously without intervention. Others will be adequately managed with medical therapy until they become smaller on their own. Still others will require surgical closure. Left untreated, large ventricular septal defects can cause pulmonary hypertension.