What is congenital heart disease?
Congenital heart disease (CHD) is an abnormality in the heart that develops before birth and is the most common birth defect. It impacts the heart’s structure and function, making it difficult to deliver blood throughout the body or to make oxygen-rich blood needed by organs. Congenital heart disease, also referred to as congenital heart defects, includes a broad category of conditions that range from mild to serious. The symptoms and treatments for each type of CHD vary based on the severity of the condition and when it’s diagnosed.
CHD can be treated by specialized cardiologists trained in congenital heart disease and congenital heart surgeons who have formal training and experience in treating both pediatric and adult congenital heart disease. Penn Medicine and Children’s Hospital of Philadelphia have created the Adult Congenital Disease Heart Center, using the latest treatment innovations and technologies to improve the health and quality of life for those born with a heart defect. Congenital heart diseases often require lifelong monitoring and management by congenital heart doctors who understand heart structure and function.
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 babies are unable to return oxygen rich blood from the lungs to the heart so that it may be pumped to the body.
- 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 the blood vessel between the aorta and the pulmonary artery fails to separate during fetal development. It can result in excess blood going to the lungs, forcing the heart to work harder to pump oxygen-rich blood to the rest of the body.
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): Similar to TAPVR, a limited number of pulmonary veins return to the right instead of the left side of the heart, returning oxygen rich blood to the right atrium to be circulated to the lungs to pick up oxygen.
- 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.
- Pulmonic stenosis: This occurs when the pulmonary valve narrows and can’t deliver enough oxygen in the blood.
- Ventricular septal defect (VSD): This condition is caused by a hole in the wall between the heart’s two lower chambers.
Some conditions can be either cyanotic or non-cyanotic such as
- Ebstein anomaly: This condition occurs when the valve between the upper and lower right heart chambers fails to form properly. Blood leaks between the chambers due to the malfunctioning valve, impacting blood flow.
- Tetralogy of fallot: This occurs when a baby experiences four distinct heart defects simultaneously (ventricular septal defect, overriding aorta, pulmonary stenosis, and right ventricular hypertrophy). Patients may present cyanotic if they have severe pulmonary stenosis or obstruction to pulmonary blood flow.
Congenital heart disease symptoms
Congenital heart disease can include a range of symptoms, depending on the condition. In some cases, the symptoms of a congenital heart defect won’t present until adulthood. If CHD is suspected in an infant, their breathing and heart rate will be closely monitored since their symptoms can be hard to identify.
Symptoms often include:
- Fast or labored breathing
- Shortness of breath
- Rapid or irregular heartbeat
- Discoloration of the skin, nails, or lips (usually a bluish tint)
- Swelling of the legs and stomach (edema)
- Fatigue or tired feeling (at rest or after physical activity)
Causes of congenital heart disease
The causes of CHD are mostly unknown, though they may be caused by a combination of genetics and environmental, health, and lifestyle factors in parents.
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-Beuren 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 according to their age, type of condition, and health background. Some treatments may include medications only, while others may require surgery. Babies with CHD may be treated by one or more interventions, including possible open heart surgeries, shortly after birth or even before birth.
Living with a congenital heart defect
Depending on your specific CHD diagnosis, you may have to make accommodations in your daily life. Understanding your specific CHD condition and its associated impacts will help you stay informed, manage symptoms, and produce the best outcomes. With proper medical and emotional support, you and your care providers can create a straightforward treatment plan to help you, or your child, stay healthy.
Innovative leaders in congenital heart disease
People born with congenital heart defects are living better than ever thanks to advanced medical and surgical innovations. Penn Medicine and Children’s Hospital of Philadelphia (CHOP) are at the forefront of these innovations and have joined forces to create the Adult Congenital Disease Heart Center where congenital cardiologists, and congenital heart surgeons are specially trained in the complex anatomy and heart function of those with CHD.
We provide thorough care to treat both the origins and impacts of CHD, plus education and counseling to help people monitor their own health and handle any non-cardiac issues that may accompany congenital heart disease. With comprehensive and advanced treatment plans based on the latest research, we help minimize complications, speed recovery, and optimize the health of those with CHD.