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Congenital Heart Disease


When you hear that a child has a congenital heart defect, it means there is a structural problem that has affected the way the heart or major blood vessels have formed. Birth defects like this are common—nearly one out of every 100 children born is affected by congenital heart disease.

“About half of these are major defects, requiring significant intervention or surgery, or multiple surgeries over many years,” says Alan Friedman, MD, a pediatric cardiologist for Yale Medicine. Scary as that sounds, most will be fine. “The outlook for just about every child born with congenital heart disease is excellent,” he says. “More than 95 percent of babies born with congenital heart disease survive to adulthood."

Yale Medicine specialists provide highly personalized care for congenital heart disease patients of all ages, from fetal diagnosis through adulthood.

What are the different types of congenital heart disease?

Some congenital heart defects are simple, while others are complex, involving multiple structural problems in the heart or blood vessels. Some common heart defects are holes in the septum (septal defects), which is the wall that divides the two sides of the heart, and problems with the heart valves, which control blood flow to and from the heart.

What are the symptoms of congenital heart disease?

Serious heart defects are usually detected prenatally or soon after a child is born.

Symptoms vary depending on the type of congenital heart defect. The more serious ones may affect the infant’s ability to feed and gain weight. There may be an increase in the rate or effort of breathing. Other infants may have cyanosis, a bluish discoloration of the skin.

Less serious heart defects may go undiagnosed until later in childhood. Symptoms or signs in older children include swelling in the hands, ankles or feet, and getting tired or out-of-breath easily while exercising.

How is congenital heart disease diagnosed?

The majority of congenital heart defects can be diagnosed during fetal development using the simple, noninvasive ultrasound technique to evaluate the heart. This is referred to as fetal echocardiography, and it can be extremely helpful to the family and the care team. “Appropriate planning and management strategies can be put into place to provide the safest delivery and postnatal care,” says Dr. Friedman, who performs more than 1,000 fetal echocardiograms a year in women whose pregnancy may be affected by congenital heart disease and arrhythmia (abnormal heartbeats).

Postnatal diagnosis, evaluation and care will include sophisticated examination of the baby. This is done by experts in neonatal management of babies with congenital heart disease. Bedside echocardiography is used to confirm the diagnosis.

What are risk factors for congenital heart disease?

Yale Medicine researchers are leading efforts to advance understanding of the impact of genetic and inherited mechanisms that may lead to congenital heart defects. Still, it is believed that a number of congenital heart diseases occur spontaneously during the first few weeks of pregnancy, as the heart is developing.

How is congenital heart disease treated?

Each case is unique and requires an individualized treatment plan. Cutting-edge treatments offered at Yale Medicine include:

  • Advanced transcatheter techniques that can be used to close intracardiac defects, open tight valves, replace certain heart valves and relieve the narrowing of blood vessels
  • Congenital heart surgery
  • Comprehensive care of patients in the Newborn Intensive Care Unit and Pediatric Intensive Care Unit
  • Management of arrhythmias (abnormal heartbeats) in children, teenagers and young adults
  • State-of-the-art treatment for adults who were born with congenital heart disease

New approaches are making a difference in terms of successful outcomes for patients, Dr. Friedman says. "Huge gains have been made in the field in the last 50 years. The last 25 years have been a dawning of a completely new era. That progress is only going to accelerate," he says.

"We know that it’s largely the result of the collaborative, multidisciplinary approach of early diagnosis, precision therapy and collaborative teamwork among our staff, patients and families.”

How is Yale Medicine's approach to treating congenital heart disease unique?

Yale Medicine has experts in a world-class facility who provide individualized and personalized care for all, says Dr. Friedman. “Our Fetal Cardiovascular Center can detect the vast majority of problems during fetal development,” he says. “It’s a very successful component of what we provide to our patients and our families.”

So too, at the other end of the age spectrum, is the Adult Congenital Heart Program—a comprehensive program for adults who were born with heart defects and who are now living active lives.

Serving all ages, from newborn to adult, is the Pediatric Interventional Cardiac Catheterization Program, which has a global reputation for excellence.

Coupled with clinical care at the bedside is Yale Medicine’s Cardiovascular Genetics Program, which is at the forefront of uncovering the underlying mechanisms of congenital heart disease. “This is a fast-growing area of research and where the future of diagnosis and treatment will be,” Dr. Friedman says. “And though we’re just beginning to scratch the surface, we’re able to use information gathered in the lab in our clinic to better treat patients.”

A personalized approach to each congenital heart disease patient – one that heavily involves his or her family—is a key advantage of Yale Medicine’s program. “The core of our mission is to take a highly personalized, patient-centered approach,” Dr. Friedman says. “We plan with the families for the best outcome, over the short- and long-term. Ideally, we are involved in a patient’s care from fetal diagnosis right through adulthood.”