Congenital heart defects

More than 1 million Americans suffer from them

In an online forum about baby heart health with a high volume of female participation, an expecting mother at 23 weeks reaches out to her colleagues’ postings: “I found out last night that my son is going to be born with [several heart problems]. I was wondering what parent has had children with these defects and what the outcome was. This is my first child.”

Obviously devastating news for any new parent to receive, let alone the complexity of her unborn child’s issues, which included hypoplastic left heart syndrome, pulmonary atresia and a single ventricle right aorta, all of which are congenital heart defects.

Parents across color and economic lines experience similar diagnoses, although they vary in severity. The child is already considered at-risk due to life-threatening heart development issues, which even causes some 2-hour-olds to have to undergo open-heart surgery.

Congenital heart defects are present at birth and are the result of improper development of the heart. These birth defects are the No. 1 cause of death among infants before the age of 1.

While recent studies have not directly determined if congenital heart defects are the culprit of the astronomically high Black infant mortality rates, one study suggests that African American babies are more likely than their White or Hispanic counterparts to die from certain types of heart defects like pulmonary valve atresia. But Black babies appear to have lower rates of aortic valve atresia and ventricular septal defect.

According to the March of Dimes, an organization dedicated to infant health research, infant mortality rates in 2007 were led by birth defects. States that were affected the most by high infant mortality rates are mostly within the American Bible Belt.

According to the Centers for Disease Control and Prevention (CDC), these heart defects affect nearly 1 percent, or 40,000 births per year. That is eight out of every 1,000 newborns, says the National Heart Lung and Blood Institute.

Some result in death, while most infants grow up to lead healthy productive lives. More than 1 million adults in the U.S. today are living with a congenital heart defect.

Where does it come from?

While science is still trying to understand these types of defects, researchers are unsure how they develop, but over the years studies have revealed that they may be genetic.

Dr. Woodrow Benson says in “The Parent’s Guide to Children’s Congenital Heart Defects,” that from what science has revealed, a genetic mutation may be the cause of a faulty heart at birth. He explains, however, that genetics do not mean inherited, but don’t exclude inheritance.

In other words, some offspring could inherit a genetic mutation and develop a congenital heart defect, while others could develop a genetic or chromosomal defect sporadically.

“Some genetic causes or risks of congenital heart defect occur on a sporadic basis and some occur on a familial basis,” Benson explained. “For example, infants with Down syndrome have a high risk of congentital heart defect, and the genetic cause usually is sporadic. On the other hand, children who have a chromosome 22q11 deletion also have high risk of congenital heart defect. This genetic cause of congenital heart defect is sporadic in 80 to 85 percent of cases, but 15 to 20 percent of the time the deletion has a familial basis.”

Although researchers aren’t sure of the cause, some preventative measures can be practiced to reduce the risk of developing these defects. However, many doctors agree that at this point in research they are not completely preventable.

Healthy and consistent prenatal care can help prevent developmental mishaps, according to the Centers for Disease Control. A study conducted by the governmental organization found that obesity, diabetes, and smoking increase the risk of congenital heart defects. Also often, the heart of the fetus is developed before a woman learns she is pregnant, and therefore prevention should begin before conception.

Other sources say some developmental issues may occur if a mother is dealing with disease and/or taking certain medications while pregnant.

What are the symptoms?

Cardiologist and full-time faculty member at the UCLA Medical Center, Dr. Karol Watson, says typically congenital heart defects are detected during pregnancy. Immediately after birth, she says any heart issues are obvious and diagnosed right away, especially with today’s technology.

Because the heart is among the first organs to form, by six or eight weeks, doctors can detect a problem.

“High-tech ultrasounds can be used to detect [congenital heart defects],” said Watson. “While it’s (the heart) formed, it does a rotating act and sometimes the rotation goes wrong.”

She explained that last stage of heart placement while in the womb is critical, and this is where many things can go wrong.

Most heart issues are diagnosed in the early stages of a baby’s life before or after birth, but sometimes they go undetected until a traumatic medical episode or later in adulthood.

“I’ve seen adult women who have a hole in their heart, but it’s not detected until they become pregnant because the heart is working extra hard for the baby,” Watson said.

According to Cedars-Sinai Heart Institute, symptoms may include a heart murmur, symptoms of heart failure such as increased breathing rate, difficulty breathing or a rapid heartbeat. Babies who may have an undetected heart defect before birth may also look discolored and their skin could turn blue from lack of oxygen after birth. Other abnormalities may include clubfoot or enlarged fingers or toes, as well as cold hands and feet.

A doctor can detect most other symptoms using ultrasound and other advanced technological tests. But the clubfeet and enlarged finger and toes are detected after the child is born.

Defects can range from holes in the heart and underdeveloped vessels to blockages of a chamber and a displaced aorta, the largest artery in the body, which carries blood away from the heart.

How do you treat it?

Congenital heart defects range from simple to severe and each case is treated differently. While some youth may “grow out” of some of the simpler heart problems, others may have to deal with frequent checkups, medications, or may even require immediate surgery.

Once a doctor has determined a child has a defect, the baby may undergo a heart catheterization. This procedure requires inserting a tube through the groin into the heart to see how the blood is flowing.

If surgery is necessary and depending on the severity of the case, it could take place anytime between birth and 3 months, or before the child’s second birthday. For other defects, the best time for surgery may be between ages  2 and 4.

Other children with heart defects may only need medication to help speed up the heart’s maturation.

Benson said most of these children grow up to be normal functioning adults, but occasionally along the way, other issues may become apparent.

“The great majority of infants and children born with congenital heart problems develop normally,” he said. “However, some may have motor, perceptual, or intellectual developmental delays. Most of these children were obvious explanations for the developmental delay, which tends to be apparent early in life ….  Chronic congestive heart failure, or cyanosis in infants, may delay weight or height maturation as well as motor or cognitive skills.”

Benson assured, however, that a “stimulating and loving environment” along with a healthy, normal childhood could help maximize a child’s development.

Watson explained that with new advances in technology, treating heart defects has become easier.

“We’ve gotten really good at treating, whereas when I was in medical school some procedures would be considered a death sentence to an infant,” Watson recalled. “Now we are seeing babies growing up to be adults, but the issues they may have are not related to [a congenial heart defect].”

Dealing with a congenital heart defect can be emotionally and financially draining, but most heart centers provide ample resources and support for all parents and children.

Some of the nation’s top-ranked heart research hospitals include Cleveland Clinic in Cleveland, Ohio; Texas Heart Institute at St. Luke’s Episcopal Hospital in Houston, Texas; University of Michigan Hospitals and Health Centers in Ann Arbor, Mich.; and Cedars-Sinai Medical Center in Los Angeles, Calif.

To find out more about congenital heart defects, visit congenitalheartdefects.com.