Congenital heart disease
What is congenital heart disease?
Congenital heart disease (CHD) is a condition that affects the heart’s structure or function and develops before birth. It’s the most common type of birth defect. CHD can affect how blood flows through the heart and to the rest of the body. Some heart defects are mild, while others are more serious. Symptoms and treatment vary depending on the type, the severity of the defect, and when it’s diagnosed.
CHD can be treated by cardiologists and surgeons who specialize in congenital heart disease. Penn Medicine and Children’s Hospital of Philadelphia (CHOP) have partnered to create the Philadelphia Adult Congenital Heart Center, using the latest treatment innovations and technologies to improve the health and quality of life for those born with a heart defect. The center offers advanced imaging, minimally invasive procedures, surgery, clinical trials, and other specialized treatments.
Whether you’re a parent whose child has a congenital heart defect, or you were born with a heart condition yourself, our specialists can develop a treatment plan that addresses symptoms and supports healthy lives.
Types of congenital heart disease
Multiple types of CHDs exist, from mild to serious cases. They are generally divided into two categories:
- Cyanotic congenital heart disease: Cyanotic heart conditions are characterized by a blue skin color caused by a lack of oxygen. In these cases, the heart cannot supply enough oxygen in the blood as it’s delivered throughout the body.
- Non-cyanotic congenital heart disease: Also known as acyanotic congenital heart disease, this type of CHD is caused by an abnormal heart structure. While there is enough oxygen in the blood, there’s a problem pumping blood throughout the body in a normal way.
Common types of cyanotic congenital heart disease include:
- Hypoplastic left heart syndrome (HLHS): This improper formation of the left side of the heart means only one side of the heart can pump blood to the body while blood must flow passively to the lungs. HLHS can lead to underdevelopment in many areas of the heart, including the left ventricle, mitral valves, and aortic valves.
- Pulmonary atresia: This defect occurs when the pulmonary valve that controls blood flow from the heart to the lungs fails to form.
- Total anomalous pulmonary venous return (TAPVR): This condition occurs when the pulmonary veins, which carry oxygen-rich blood from the lungs to the left atrium, connect abnormally to the right side of the heart or its blood vessels. This causes oxygen-rich and oxygen-poor blood to mix.
- Transposition of the great vessels: This occurs when the main pulmonary artery and the aorta, two major arteries that deliver blood from the heart to the rest of the body, are switched, causing deoxygenated blood to be delivered to the body.
- Tricuspid atresia: This defect occurs when the valve that controls blood flow from the upper to the lower right chambers of the heart fails to form and is missing.
- Truncus arteriosus: This condition occurs when a single blood vessel forms instead of a separate aorta and pulmonary artery. As a result, oxygen-rich and oxygen-poor blood can mix.
Common types of non-cyanotic congenital heart disease include:
- Aortic valve stenosis: This occurs when the aortic valve, between the aorta and a heart chamber on the lower left, is constricted and fails to open completely. This restricts blood flow from the heart to other parts of the body.
- Bicuspid aortic valve (BAV): This condition is caused when the aortic valve develops with two cusps (flaps of tissue) instead of three. BAV can lead to blood leakage (aortic regurgitation) or narrowing (aortic stenosis) of the valve, leading to inadequate blood flow.
- Atrial septal defect (ASD): This condition is caused by a hole in the wall that separates the heart’s upper chambers. It occurs when holes made during the heart’s formation fail to close before birth.
- Partial anomalous pulmonary venous return (PAPVR): This occurs when one or more pulmonary veins connect abnormally to the right side of the heart or nearby blood vessels instead of returning oxygen-rich blood from the lungs to the left atrium. This can cause extra blood flow to the lungs.
- Atrioventricular septal defect (AVSD): This condition, also known as endocardial cushion defect, is caused by a hole in the chambers between the left and right sides of the heart. It often causes improper formation of the valves that control blood flow between these chambers.
- Coarctation of the aorta: This abnormal narrowing of the aorta can cause elevated blood pressure and, in extreme cases, heart failure. It may go undetected until adulthood.
- Patent ductus arteriosus: This condition occurs in babies when a blood vessel, called the ductus arteriosus, doesn’t close as it should shortly after birth.
- Pulmonary valve stenosis: This occurs when the pulmonary valve is narrowed, making it harder for blood to flow from the right ventricle to the pulmonary artery and lungs.
- Ventricular septal defect (VSD): This condition is caused by an opening in the wall between the heart’s lower chambers, allowing blood to flow between the ventricles.
Some congenital heart defects can cause cyanosis in more severe cases but may not cause cyanosis when the defect is less severe. These include:
- Ebstein anomaly: This condition occurs when the tricuspid valve doesn’t form normally and is positioned lower than usual in the right ventricle. The valve may leak, allowing blood to flow backward into the right atrium and affecting blood flow through the heart.
- Tetralogy of Fallot: This condition involves four heart defects: a ventricular septal defect, narrowing of the pulmonary valve or the area below it, an overriding aorta, and thickening of the right ventricle. Cyanosis can occur when there is significant obstruction of blood flow to the lungs.
Congenital heart disease symptoms
Congenital heart disease can cause a range of symptoms depending on the type and severity of the heart defect. Some people may not have symptoms until adulthood. In infants, symptoms can be subtle or difficult to recognize, so health care providers may closely monitor their breathing, heart rate, and other signs of heart problems.
Symptoms may include:
- Fast or labored breathing
- Shortness of breath
- Fast or irregular heartbeat
- Bluish discoloration of the skin, lips, or nails
- Swelling in the legs, ankles, feet, or abdomen
- Fatigue or unusual tiredness, especially with physical activity
- Poor feeding or difficulty gaining weight in infants and children
Causes of congenital heart disease
The causes of CHD are mostly unknown. Changes in genes or chromosomes can cause some CHDs, while a combination of genetic, environmental, and other factors may increase the risk of developing a heart defect. Certain health conditions, medications, and exposures during pregnancy may also increase the risk.
People born with certain genetic conditions may be more likely to develop CHD. These include:
- Down syndrome
- DiGeorge syndrome or 22q11.2 deletion syndrome
- Marfan syndrome
- Noonan syndrome
- Turner syndrome
- Williams syndrome
- Alagille syndrome
Diagnosing congenital heart defects
When a congenital heart defect is suspected, a doctor will perform a physical exam, take a health history, and suggest various tests to pinpoint a diagnosis.
Congenital heart disease treatment
Each person’s CHD treatment and management plan varies based on their age, type and severity of heart defect, symptoms, and overall health. Some people may only need regular monitoring and medications, while others may need one or more procedures or surgeries. Babies with certain types of CHD may need treatment shortly after birth, and some heart defects can even be treated before birth.
Living with a congenital heart defect
Depending on your specific CHD diagnosis, you may need to make some changes to your daily life or have regular follow-up care. Understanding your condition and how it may affect your health can help you recognize symptoms, make informed decisions about your care, and know when to reach out to your health care team. With the right medical and emotional support, you and your health care team can create an individualized plan that helps you or your child stay as healthy as possible.
Innovative leaders in congenital heart disease
Living with a congenital heart defect can involve complex health needs that change over time. At Penn Medicine, our specialists take a holistic approach to care, considering how CHD affects your heart, overall health, and daily life. Our partnership with CHOP also provides access to specialized treatments and active research programs focused on understanding heart defects and developing new treatments.
Care is individualized to your needs and can address more than your heart health. Your treatment plan may include genetic counseling, exercise recommendations, reproductive health support, and mental and emotional wellness resources. Our team works with you to manage your condition, address your changing needs, and support your well-being.