Q&A on Congenital Heart Disease

When you hear that a baby or 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 early in pregnancy. 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,” said Alan Friedman, MD, a Yale Medicine pediatric cardiologist who sees patients at Yale New Haven Children’s Hospital. Scary as that sounds, most will be fine. “The outlook for just about every child born with congenital heart disease is excellent,” he said. “More than 95 percent of babies born with congenital heart disease survive to adulthood."

Specialists at Yale New Haven Children’s Heart Center provide highly personalized care for congenital heart disease patients of all ages, from fetal diagnosis through adulthood.

What are the symptoms of congenital heart disease?

Serious heart defects are usually detected before birth 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 or occasionally present for the first time in adulthood. Symptoms or signs in older individuals include swelling in the 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. 

Postnatal diagnosis, evaluation and care will include sophisticated examination and testing of the baby. This is done by experts in neonatal management of babies with congenital heart disease. The diagnosis is confirmed via testing through bedside echocardiography or, as needed, by cardiac MRI or catheterization.

How is congenital heart disease treated?

Each case is unique and requires an individualized treatment plan. “The field of congenital heart care has developed into a multispecialty service involving cardiology, surgery, anesthesia and many others. We meet as a team to discuss complex cases and try to find the least invasive way to treat the condition,” said Robert Elder, MD, a pediatric cardiologist and director of the Adult Congenital Heart Program, part of the Yale New Haven Health Heart and Vascular Center. “It is exciting to see my patients benefit from advances in minimally invasive technology to treat their underlying conditions and get them back to doing what they want to live their best lives.”

Yale New Haven Health offers Connecticut’s only dedicated Pediatric Cardiac Intensive Care Unit where a multidisciplinary team led by specialists in congenital heart disease provide the most advanced treatments, including:

• 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
• 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

This article is based on one originally published by Yale Medicine.