What is Congenital Heart Disease?

In 1973, President Lyndon B. Johnson declared February as American Heart Month. Today, cardiovascular disease is one of the leading causes of death worldwide. American Heart Month is a great opportunity to spread awareness about heart disease and to remind Americans to keep their hearts healthy. February 7-14th is Congenital Heart Disease Week. Congenital heart disease (CHD) is the most common birth defect, affecting about 8 in every 1,000 births. Read on here to learn more about congenital heart disease including symptoms, causes, diagnosis, and treatment.

What is congenital heart disease?

The word “congenital” means present at birth, while “heart disease” here refers to an abnormality of the heart or surrounding vessels. The terms “congenital heart disease” and “congenital heart defect” are used interchangeably. Have you or anyone you know ever said that they were born with a hole in their heart? This is a common type of CHD where there is an opening between the chambers of the heart after birth. Other conditions associated with CHD include abnormal heart valves and vessels, problems with the aorta (the main artery where blood leaves the heart), or problems with the wall of the heart. In severe cases, an entire valve or chamber of the heart can be missing. These abnormalities are concerning when they cause too little or too much blood to pump through the body or lungs.

What are the symptoms of congenital heart disease?

The symptoms of CHD can range from none at all to life-threatening. Less than half of CHD is diagnosed at birth. Some people live well into adulthood without experiencing symptoms, like those with very small holes in their hearts. However, when a heart defect is severe or when a person is under stress, symptoms can arise. If the heart is not able to pump blood as efficiently as it should at birth, an infant can develop symptoms like trouble breathing, low blood pressure, and a blue tint to their skin and lips. Other symptoms in infants can include small size, trouble feeding, and chest pain. Adults who were born with a heart defect can experience symptoms such as dizziness, abnormal heart rhythm, trouble breathing, high blood pressure, swelling, and fatigue. The more severe and life-threatening heart defects typically present with symptoms shortly after birth.

What are the risk factors for congenital heart disease?

It’s still unknown what causes many cases of CHD. They may just be due to random errors during fetal development. However, some environmental and genetic risk factors for CHD have been identified. Environmental risk factors include uncontrolled diabetes in the mother during pregnancy, rubella virus at birth, lithium (for treatment of some mental illnesses), monozygotic twinning, and advanced maternal age. There is also a genetic component to CHD. Sometimes, we see multiple cases in one family, which indicates a genetic cause. Additionally, there are some genetic conditions, like Down Syndrome, Turner Syndrome, Noonan Syndrome, Holt-Oram Syndrome, and Marfan Syndrome that heart defects are common in. Only in rare cases are heart defects caused by single-gene mutations.

How is it diagnosed?

In some cases, CHD is found before birth. An ultrasound may show an abnormal heartbeat or structural abnormalities of the heart. After birth, if a doctor suspects CHD, tests can be ordered to evaluate heart structure and function, like an electrocardiogram (EKG) or an echocardiogram to confirm a diagnosis. X-rays, CT scans and MRIs can also be ordered to see the heart. Blood tests looking at the amount of oxygen in the blood can also be useful.

How is it treated?

Treatments for CHD can vary depending on the severity and type of defect. Some minor defects may never need treatment or resolve on their own. Others may need a surgery to make a small repair, after which the child can live a healthy, normal life. More serious defects may need multiple, more complicated surgeries and need management throughout life. The most serious cases may require a heart transplant. Medications can be used to treat some symptoms of CHD, like high blood pressure. Sometimes, activity restrictions are made to prevent unnecessary stress on the heart.

February is American Heart Month, and February 7-14 is Congenital Heart Defect Week! Here’s How you can get involved:

• National Wear Red Day is February 2nd. Wear red to raise awareness about heart disease.

• To donate to the Children’s Heart Foundation, click here: http://www.childrensheartfoundation.org/donate-now

• To learn more about heart disease, including congenital heart disease, click here: http://www.heart.org/HEARTORG/

• The 2018 Midlands Heart Walk is March 24th. Find information about participating or volunteering on the American Heart Association-Midlands Facebook page.

Caitlyn Mitchell is a genetic counseling graduate student at the University of South Carolina Genetic Counseling Program.

Find a genetic counselor at Palmetto Health USC Genetic Counseling or feel free to contact us at 803-545-5775 or genetics@uscmed.sc.edu.

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