Congenital Heart Defects (CHDs) are abnormalities in the structure of the heart that develop before birth. They are the most common type of birth defect, affecting approximately 1 percent of all newborns, or roughly 40,000 per year in this country.
These defects can have a significant impact on blood flow through the heart and out to the rest of the body. Common types are holes in different areas of the heart, too-narrow blood vessels and leaky valves. In more severe forms, parts of the heart may be poorly formed, out of place or missing altogether.
Thanks to significant advances in methods of detection, diagnosis and treatment, these congenital defects are not as deadly as they once were. According to the federal Centers for Disease Control and Prevention, the present-day rates for survival to age 18 are about 95 percent for babies born with mild forms of CHD and about 70 percent for those born with severe defects. (By way of comparison, as recently as 2005 the survival rate to age 1 for newborns with severe CHDs was only 69 percent.)
That means the population of people with congenital heart defects is growing. Researchers estimate that in the United States there are currently about 1 million infants, children and adolescents and 1.4 million adults living with some form of CHD. Most of these people (or their parents) are aware of their condition. Most, but not all.
That’s because while congenital heart defects are present at birth, they don’t necessarily produce signs or symptoms until later in life, sometimes much later. And there’s no good way to tell when - or even if - they’ll become apparent.
“The heart is an amazing organ with many moving parts and there are a lot of possibilities as the heart is developing for something to not connect right, so there are a lot of different congenital defects, probably more than 30,” said Wake Forest Baptist Health interventional cardiologist Sanjay Gandhi, M.D. “Some of these are identifiable right away, or they manifest in early childhood or maybe in adolescence. But otherwise there are too many variables to predict when someone with CHD might experience symptoms or effects.”
These variables include the type of defect, its location, its severity, the function(s) it effects and whether it is a simple or complex defect. Other factors are an individual’s age, overall health and lifestyle habits, especially regarding diet and exercise.
“Many of the lifestyle choices that can increase the risk of other cardiovascular issues can have an impact on congenital defects later in life,” Gandhi said.
And early intervention is no guarantee of immunity: Even congenital heart defects that are identified and treated in childhood can resurface and cause problems in adulthood.
Among the most common problems associated with CHD in adults are arrhythmia (abnormal heart rhythms), stroke, congestive heart failure, pulmonary hypertension (high blood pressure in the lungs) and atherosclerosis (hardening or narrowing of the arteries).
Fortunately, in the majority of cases these complications are preceded by warning signs such as shortness of breath, exertion fatigue, dizziness or fainting and heart palpitations.
“These are also signs of other heart problems and may not have anything to do with a congenital heart defect,” Gandhi said. “But if you have any of these symptoms and they’re life-impacting - you’re having trouble doing any of the simple, everyday things you could do easily a year ago - you should definitely inform your primary health care provider and explore whether you need to see a heart specialist and have some cardiac testing.”
The most frequently employed methods of detecting heart abnormalities are electrocardiogram(EKG), which measures the heart’s electrical activity, and echocardiogram, which uses sound waves (ultrasound) to produce a picture of the heart. Depending on what those tests reveal, doctors may also turn to blood tests, chest X-rays and CT or MRI scans to accurately evaluate an individual’s condition.
And if it is determined that the problem is due to a congenital heart defect?
“Often times the patients are very surprised that the problem is something they’ve been living with their entire lives,” Gandhi said. “On the other hand, sometimes they realize that things weren’t always right with their breathing or stamina, that they couldn’t keep up with their friends on the soccer field or in the swimming pool when they were younger, that maybe this problem with their heart did manifest earlier than they had thought.”
The treatments for CHD vary, based on the nature and severity of the defect. Some patients can be treated with medications, which cannot repair a structural abnormality but can relieve symptoms and reduce the risk of complications. Other individuals require one or more surgical procedures, which can be either minimally invasive (such as percutaneous catheterization) or traditional (open heart surgery). Virtually all instances call for follow-up monitoring and management.
Cardiologists and heart surgeons who treat adults are generally more familiar with acquired heart disorders than CHD. (Gandhi estimated that less than 10 percent of the minimally invasive procedures he performs involve patients with congenital heart problems.) At Wake Forest Baptist, the adult heart specialists work closely with the pediatric cardiology experts at the medical center’s Brenner Children’s Hospital, who are more familiar with congenital defects, in identifying, evaluating and treating these conditions in adults.
“We’ll do whatever’s needed to best fix the problem,” Gandhi said. “And it’s all going to be tailored specifically to the needs of the individual patients.”
Feature Courtesy of Wake Forest Baptist Health