Congenital heart defects are complex in adult patients. Congenital defects, such as valve malformations or holes, can further damage or weaken the heart, which makes adult CHD patients susceptible to developing severe heart disease. Cardiology experts at the University of Chicago Medicine can help identify your congenital heart condition(s) and work with you to determine which treatment(s) will be best for your unique needs.

An atrial septal defect (ASD) is a congenital condition where a hole has formed in the wall of tissue that separates the right and left atria (upper chambers of the heart). ASDs cause oxygen-rich blood to mix with oxygen-poor blood, which allows oxygen-poor blood to be delivered to vital organs. Large ASDs can eventually lead to pulmonary hypertension or heart failure, and surgery is typically required to repair the defect.

Types of ASDs:

  • Ostium secundum is the most common ASD, and it occurs when a portion of the atrial septum fails to develop normally. This defect can most often be closed using a minimally invasive transcatheter procedure.
  • Ostium primum is is a deficiency in part of the atrioventricular canal and is associated with a split (cleft) in the mitral valve.
  • Sinus venosus is classified as a hole between the superior vena cava (main vein that is returning blood from the upper body) and the right atrium (right upper chamber of the heart).
  • Coronary sinus is the rarest ASD. This is characterized by a hole the coronary sinus, a major vein in the heart.

Atrioventricular canal defect results in a hole in the center of the heart, which impacts all four valves and effectively separates the right and left sides of the heart. With atrioventricular canal defect, oxygen-rich blood is mixed with oxygen-poor blood and is re-circulated through the body, making it hard to regulate blood flow to critical organs.
A healthy aortic valve will have three flaps to seal the valve and regulate blood flow. People who are born with the congenital condition bicuspid valve disease only have two aortic valve leaflets. Without the third leaflet, the valve will not close properly and blood can leak backwards into the heart and reduces blood flow to the rest of the body. Patients with bicuspid aortic valve disease typically require a valve repair or replacement surgery to prevent further health problems.
Though coarctation of the aorta (CoA) is typically developed at birth, many patients will not know they have it until adulthood. With CoA, the aorta is pinched and narrowed, making it hard for blood to flow easily out of the heart to the rest of the body. Because CoA requires the heart to work harder to force blood out through the aorta, these patients run the risk of developing high blood pressure, heart disease and aneurysms. Coarctation of the aorta can be treated through cardiac catheterization.

When a patient is born with mitral valve defects, they are at risk for developing valve disease, including mitral stenosis and mitral regurgitation because the valve function is compromised.

 

Types of mitral valve disease

  • Mitral stenosis occurs when the valve flaps stiffen or fuse together, making the valve opening smaller and narrower, ultimately decreasing blood flow.
  • Mitral regurgitation, also know as mitral insufficiency, occurs when the leaflets, or cusps, of the mitral valve do not close properly, allowing blood to flow backwards through the heart.
Mitral valve anomalies prevent the heart from effectively pumping oxygenated blood out off the heart and into the rest of the body. Normal treatments include a mitral repair or mitral replacement.
The double-outlet right ventricle defect (DORV) is a condition in which the aorta is connected to the right ventricle rather than the left ventricle. With DORV, the oxygen-poor blood from the right ventricle is being circulated through the aorta and pulmonary artery to the lungs. It is common for DORV patients to also have associated disorders or anomalies, such as narrowed arteries, ventricular septal defect and other conditions.
In a healthy heart, the tricuspid valve serves as the control center guiding blood from the right upper chamber to the right lower chamber. For patients born with Ebstein’s anomaly, the tricuspid does not have the necessary flaps to open and close the valve properly. This allows blood to leak backwards in the right upper chamber, which decreases the amount of blood that is being pumped to the lungs. Repairing or replacement the valve can restore proper blood flow to and from the heart.
With Eisenmenger syndrome, a hole between the left and right ventricles leads to abnormal blood circulation between he heart and lungs. Because of this hole, more blood is pumped through the lungs, increasing pressure on the arteries and causing them to narrow and stiffen. If this is untreated, Eisenmenger syndrome can eventually lead to permanent managed to the lungs.

Hypoplastic left heart syndrome (HLHS) is a birth defect that occurs when the left side of the heart if underdeveloped, with can lead to:

  • Left ventricle is too small
  • Mitral valve is too small
  • Aortic valve is too small
  • Ascending aorta is underdeveloped
  • Hole between the left and right atrium
With this defects, the aorta and mitral valves do not function properly, making it difficult to pump oxygen-rich blood to the rest of the body because the heart is forced to use the right side to regular both incoming and outgoing blood flow.
Long QT syndrome (LQTS) is a type of ventricular tachycardia caused by a genetic mutation that leads to erratic electrical impulses (heartbeats) that increase over overtime, eventually causing serious ventricular tachycardia. LQTS symptoms can include seizures, fainting, and even cardiac arrest if your heart beat doesn’t normalize.  This condition can be treated with medication, implantable devices or surgery.

The ductus arteriosus is an opening in the heart that typically closed soon after birth. Patients with patent ductus arteriosus (PDA) have a persistent hole between the aorta and pulmonary arteries – two crucial vessels pumping blood from the heart.

 

Those with a small patent ductus arteriosus should not require any treatment, but if a larger patent ductus arteriosus remains untreated, patients will have blood flow insufficiency and risk further heart damage.
Similar to atrial septal defects, a patent foramen ovale (PFO) also occurs when a hole forms in the septal tissue that separates the upper chambers of the heart. With PFO, instead of an open hole, there is a flap-like structure that opens when there is pressure in the chest, such as coughing or sneezing. PFOs lead to abnormal blood flow and the mingling of oxygen-poor blood with oxygen-rich blood in the body.
In pulmonary atresia, the pulmonary valve did not form properly before birth. The pulmonary valve does not regulate blood flow by opening and closing, preventing blood from traveling from the heart to the lungs. If untreated, pulmonary atresia limits oxygen circulation to the lungs, causing breathing problems, fatigue, blue/purple skin and more. Depending on the diagnosis, treatment can include medication, catheterization or surgery.

The tetralogy of fallot is a combination of four separate problems that can occur in the heart, impacting blood flows from the heart to the body:

  • A hole in the lower chambers
  • The aorta obstructs the hole
  • The muscle around the lower chamber thickens
  • Blockage from the heart to the lungs
Tetralogy of fallot prevents the normal passage of blood from the left side of the heart to the right side. Because of the hole(s) and blockage(s) in the heart, oxygen-poor blood is mixed with oxygen-rich blood in both the right and left chambers, which depletes the supply of oxygen-rich blood needed for the lungs and other vital organs.
In total anomalous pulmonary venous connect/return, the veins that move between the heart and the lungs are malformed and the oxygen-rich blood either enters the wrong chamber of the heart. This means that there is not enough oxygen being circulated through the heart and pumped out to the lungs.
Tricuspid atresia a congenital condition (present at birth) where the tricuspid valve has not fully formed. Patients born with a tissue growth between the upper right chamber and the lower right chamber obstructs blood flow between the atria and the ventricle. Since blood does not flow properly throughout the heart and into the lungs, patients with tricuspid atresia are often short of breath and tire quickly due to lack of oxygen. Typically, surgery is needed to repair tricuspid atresia.
As a rare congenital heart disease, truncus arteriosus only has one vessel to pump blood to the lungs and the rest of the body, so there is no direct path for blood returning to or leaving from the heart. This means that oxygen-rich and oxygen-poor blood is pumped our to the body simultaneously and diluting the quality of blood.  If trucnus arterious is left untreated, adult patients can develop heart failure and pulmonary hypertension, causing damages to the heart and lungs.

Stenosis is characterized by a narrowing of the valve due to plaque build-up (atherosclerosis). When the valve thickens or narrows, the opening becomes smaller and blood cannot pass through the valve as easily. With stenosis, the heart works hard to compensate for the constricted opening and blood flow is reduced to other chambers of the heart and/or to vital organs. In severe cases, heart valve surgery or interventional procedures may be necessary to prevent serious health complications. Patients can be diagnosed with:

  • Mitral valve stenosis
  • Aortic valve stenosis
  • Tricuspid valve stenosis
  • Pulmonary valve stenosis
Vascular rings in the heart grow because the aortic arch can wrap around the trachea or esophagus, putting pressure on the tube and making it difficult to breath or eat.  Vascular rings are typically treated with surgery to reduce the compression from the aorta and allowing natural eating/breathing.

A ventricular septal defect (VSD) is an opening in the intraventricular septum, the wall between the left and right ventricles (lower chambers of the heart). VSDs can be congenital or develop later in life after experiencing a heart attack. The hole allows blood from the left ventricle to flow back into the right ventricle and can lead to low blood pressure, low oxygen content and even heart failure.

 

Types of VSD

  • Perimembranous is an opening in the upper section of the septum and is most commonly repaired through open-heart surgery.
  • Muscular is the most common type of VSD. Muscular VSD can close spontaneously without intervention or and can be treated using an interventional transcatheter procedure.
  • Conal Septal is the rarest VSD and can be found below the pulmonic valve.
  • Infarct-Related VSD occurs when a portion of the heart is being deprived of blood, such as during a heart attack. When the heart experiencing prolonged deprivation, heart tissue may begin to die and develop a hole in what previously normally functioning heart tissue.
Wolff-Parkinson-White (WPW) syndrome exists at birth, but it’s common for patients to experience their first symptoms in adulthood. WPW occurs when an extra electrical pathway causes an abnormally fast, irregular heartbeat. Wolff-Parkinson-White can lead to fainting, chest pain/pounding, shortness of breath, or even sudden cardiac arrest. Treating WPW will depend on the severity, but can include making lifestyle changes, medication or ablation.

Conditions and comorbidities associated with congenital heart disease

Because ACHD often requires the heart to work harder to overcome any defects, adult congenital heart disease patients are at risk of developing serious conditions that can exacerbate any preexisting conditions or can create additional strain on the heart and lungs. Common comorbidities associated with congenital heart disease include:
In a healthy heart, electrical impulses follow a normal sequence to regulate the heartbeat. With arrhythmias, the electrical impulses are erratic, causing the heart to beat too fast, too slowly, or with an irregular rhythm. Patients with congenital heart valve or chamber defects can impact the normal heart rhythm and cause arrhythmias. If an arrhythmia goes undiagnosed or untreated, ACHD patients risk serious conditions such as stroke or sudden cardiac arrest. Learn more about arrhythmias.
ACHD patients with heart defects that require valve implants or prosthetics make them more susceptible to endocarditis, an infection in the heart. Endocarditis occurs when the inner lining of the heart is inflamed due to bacteria infection. If endocarditis is not treated quickly, the bacterial infection can attach itself to tissues in the heart, destroying and/or damaging the heart. Patients can be treated through antibiotics, but if it is a severe infection, surgery may be required.
When your heart is healthy, it continuously pumps blood throughout the body via the circulatory system. Congenital heart disease, such as a hole in the heart or defective valve, puts strain on the heart muscles. This makes it impossible to deliver enough nutrient-rich blood to meet the body’s needs for oxygen, eventually leading to heart failure. While there is no cure for heart failure, managing any existing congenital conditions in addition to using medication, lifestyle modification and/or surgical treatment to improve your heart failure prognosis can help you lead an active life. Learn more about heart failure.
Pulmonary hypertension (high blood pressure) occurs when it takes the arteries more force to pump blood to the lungs. Patients with congenital heart defects that impact blood flow to the lungs run the risk of developing pulmonary hypertension. These congenital conditions can make it hard for oxygen-rich blood to enter the lungs or they can overtax the lungs by forcing them to work harder. Though there is no cure for pulmonary hypertension (PH), treating preexisting congenital heart defect can slow the progression of PH. Learn more about pulmonary hypertension.
A stroke occurs when blood vessels carrying oxygen and other nutrients to a specific part of the brain suddenly burst or become blocked. Because congenital heart defects often result in blood flow deficiencies in the heart, these patients are particularly at risk for a stroke. Learn more about stroke care.

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