Congenital Heart Disease (CHD) – Symptoms and Causes

What Is Congenital Heart Disease?

Congenital heart disease, also known as congenital heart defect, is a heart deformity present at birth. The problem can affect:

  • the heart walls
  • the heart valves
  • the blood vessels

There are various types of congenital heart defects. They can range from simple conditions that don’t even show any symptoms to complex problems that cause severe, life-threatening symptoms.

According to the Centers for Disease Control and PreventionTrusted Source, there are currently 1 million adults and 1 million children in the United States living with congenital heart diseases. Treatments and follow-up care for defects have improved dramatically over the past few decades, so almost all children with heart defects survive into adulthood. Some need permanent care for their heart defect throughout their lives. However, many go on to have normal and productive lives despite having this defect.(1)

Types of Congenital Heart Disease

Though there are many different types of congenital heart defects, they can be categorized into three main groups:

  • In heart valve defects, the valves inside the heart that regulate blood flow may close up or leak. This interferes with the heart’s ability to pump blood accurately
  • In heart wall defects, the natural walls that exist between the left and right sides and the upper and lower chambers of the heart may not develop properly, which leads to back flow of blood into the heart or to build up in places where it doesn’t belong. The defect puts pressure on the heart to work harder, which may lead to high blood pressure.
  • In blood vessel defectsthe arteries and veins that carry blood to the heart and back out to the body may not function properly. This can decrease or block blood flow, resulting in various health complications.(2)

Cyanotic and Acyanotic Congenital Heart Disease

Many doctors categorize congenital heart disease as either cyanotic congenital heart disease or acyanotic congenital heart disease. In both types, the heart isn’t pumping blood as properly as it should. The primary difference is that cyanotic congenital heart disease leads to low levels of oxygen in the blood, and acyanotic congenital heart disease doesn’t. Babies with lowered oxygen levels may experience breathlessness and a bluish tint to their skin. Babies who have enough oxygen in their blood don’t show these symptoms, but they may still develop complications later in life, such as hypertention.

What Are the Symptoms of Congenital Heart Disease?

A congenital heart defect is usually deteemined during a pregnancy ultrasound. If your doctor hears an abnormal heartsound, for instance, they may further investigate the problem by performing certain tests. These may include an echocardiogram, a chest X-ray, or an MRI scan. If a diagnosis is made, your doctor will ensure the proper specialists are available during delivery.

In some cases, the symptoms of a congenital heart defect may not noticed until shortly after birth. Newborns with heart defects may have:

  • bluish tint to skin, fingers, and toes
  • breathlessness or difficulty breathing
  • feeding difficulties
  • low birth weight
  • swelling in legs, abdomen or around eyes
  • chest pain
  • delayed growth

In other cases, the symptoms of a congenital heart disease may not appear until many years after birth. Once symptoms appear,they may include:

  • abnormal heart rhythms
  • dizziness
  • difficulty breathing
  • fainting
  • swelling
  • fatigue
  • tiredness

What Causes Congenital Heart Disease?

Congenital heart disease occurs due to an early developmental problem in the structure of heart. The defect mainly disturbs the normal flow of blood through the heart, which may affect breathing. However, researchers aren’t exactly sure why the heart fails to develop properly. Suspected causes include the following:

  • The heart defect may run in families.
  • Taking certain prescription drugs during pregnancy increases the risk of child for developing a heart defect.
  • Over use of alcohol or illegal drugs during pregnancy can also increase a child’s risk of having a heart defect.
  • Mothers who had a viral infection during the first trimester of pregnancy have higher risk to give birth to a child with a heart defect.
  • High blood sugar levels, such as occurs with diabetes, may affect childhood development.

How Is Congenital Heart Disease Treated?

The treatment for a congenital heart defect depends on the type and seriousness of the defect. Some children have minor heart defects that heal on their own over time. Others may have severe defects that need extensive treatment. In these cases, treatment may include the following:


There are several medications that can help the heart work more efficiently. Some can also be used to prevent blood clot formation or to control an abnormal heartbeat.

Implantable Heart Devices

Some of the complications related to congenital heart defects can be prevented with the use of certain devices ,such as pacemakers and implantable cardioverter defibrillators (ICDs). A pacemaker can help control an abnormal heart rate, and an ICD may cure life-threatening irregular heartbeats.

Catheter Procedures

Catheterization techniques help doctors to repair certain congenital heart defects without surgically opening the chest and heart. During these process, the doctor will insert a thin tube into a vein in the leg and move it up to the heart. Once the catheter is in the right position, the doctor will use small tools threaded through the catheter to correct the defect.

Open-Heart Surgery

This type of surgery may be required if catheter procedures aren’t able to correct a congenital heart defect. A surgeon may perform open-heart surgery to close holes in the heart, repair heart valves, or widen blood vessels.

Heart Transplant

In the rare cases in which a congenital heart defect is too complicated to correct, a heart transplant may be required. During this procedure, the child’s heart is replaced with a healthy heart from a suitable donor.

Congenital Heart Disease in Adults

Depending on the defect, diagnosis and treatment may begin immediately after birth, during childhood, or in adulthood. Some defects don’t lead to any symptoms until the child becomes an adult, so diagnosis and treatment may be delayed. In these cases, the symptoms of a newly discovered congenital heart defect may have:

  • dyspnea or breathlessness
  • chest pain
  • a lowered ability to exercise
  • being easily fatigued

The treatment for congenital heart disease in adults can also differ depending on the severity of the heart defect. Some individuals may only require to monitor their condition closely, and others may require extensive medications and surgeries.

In some cases, defects that may have been treated in childhood can show symptoms again in adulthood. The original repair may no longer be effective or the initial defect may have become worse over time. Scar tissue that developed around the original repair may also end up leading to some problems, such as heart arrhythmias.

Regardless of your situation, it’s essential to continue visit your doctor for follow-up care. Treatment may not cure your condition, but it can help you maintain an activeal and normal life. It will also lower your risk for severe complications, such as heart infections, heart failure, and stroke.

How Can Congenital Heart Disease Be Prevented?

Women who are pregnant or want to concieve can take certain precautions to reduce their risk of giving birth to a child with a congenital heart defect:

  • If you’re planning to concieve, consult your doctor about any prescription or over-the-counter medications you’re taking.
  • If you have diabetes, make sure your blood sugar levels are under the normal range before becoming pregnant. It’s also necessary to work with your doctor to control the disease during your pregnancy.
  • If you weren’t vaccinated against certain viruses such as rubella, or German measles, avoid exposure to the disease and talk to your doctor about prevention options.
  • If you have a family history of congenital heart defects, ask your doctor about genetic screening. Certain genes may contribute to abnormal heart development.
  • Avoid or limit alcohol intake and using illegal drugs during your pregnancy.

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