Congenital heart disease

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.

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:

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. 

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