Last Wednesday, the story of kindergartener Avery Bell’s journey in dealing with a rare heart disease was published, but much of the actual disease and its medical relevance were left untold.

Bell suffered from Congenital Heart Disease, which by definition means an abnormal heart problem noted at birth. Merit Health cardiologist Murray Whitaker said there are generally two types of congenital heart disease: cyanotic and non-cyanotic.

With a cyanotic diagnosis the condition causes low level of oxygen in the blood giving a blue-like appearance to the child’s skin.

“The blue baby ones are much more serious than the other ones and the treatment depends specifically on what the problem is,” Whitaker said. “When you start talking about what’s the most common out of any of the categories, are ventricular septal defect, atrial septal defect, even something called a tetralogy of Fallot is relatively common when you’re dealing with congenital heart problems.”

The heart develops in a fetus when two circulatory systems fuse, which then forms the well-known “heart-shape” structure in the body. While in utero, a fetus can develop congenital heart disease from one or a combination of factors.

The first is through genetics.

Whitaker said it has been found that in most of the abnormalities there is a genetic problem, either a mutation of a given chromosome or an extra chromosome, which could lead to Turner or Down syndrome.

Or, environmental factors such as poor diet and vitamin deficiency in the perspective mother, and access to medical care also play a role in the development of CHD.

“Most of the cardiac development is in the first trimester of pregnancy,” Whitaker said. “Many times people may or may not know they’re pregnant and they may have exposures (like) alcohol and other drugs that could affect cardiac development.”

Other than good health, precautionary measures against CHD are essentially nonexistent. In some cases, some medicine a mother-to-be takes for health issues could be stopped prior to pregnancy.

“There’s an association between the use of lithium … and some of these congenital heart defects,” Whitaker said. “It gets back to proper diet, proper weight. Obesity is often associated with it as well. Essentially taking care of yourself.”

The advancement of cardiac ultrasound, or echocardiography, has allowed doctors to examine a fetus’ heart to see if it’s developed normally. Whitaker said by the time a mother wants to know the sex of her baby, doctors are able to determine if there’s a problem with the structure of the heart.

If a problem is detected, a pediatric cardiologist will then to examine the heart and develop a plan for delivery and life with the disease.

For those living with the disease, difficulty of life depends on their diagnosis. Some of the abnormalities displace the pulmonary artery and the aorta. Others, such as persistent truncus arteriosus, has one blood vessel coming out of the heart going into the lungs and the body.
“All of those things are devastating because children can die very early. Nowadays there is surgical treatment for it,” Whitaker said. “If the person has a severe defect that is not correctable or isn’t corrected then the child rarely lives maybe months or years.

“Nowadays a lot of these children with effective surgical techniques and other treatments, even with the more severe forms of the abnormalities can live relatively normal lives. Some of the milder defects like ventricular septal defect is relatively common in this context. VSDs can be closed while the child is still young and they live a completely normal life.”