Congenital Heart Defect: Causes, Symptoms And Treatment

congenital heart disease

7th -14th February is observed as Congenital Heart Defect Awareness Week every year to raise awareness about congenital heart defects.

Congenital heart defects (CHDs), also known as congenital heart disease, are the most common type of birth defects. In this, there is an abnormality in the structure of the heart. CHD is responsible for around 30% of all major congenital anomalies[1]. It is one of the leading causes of morbidity and mortality in children in the first year of life representing a major global health burden. The worldwide prevalence of CHD is estimated to be around 8 per 1000 births[2]. According to a 2018 study published in the journal Indian Pediatrics[3], India has a prevalence rate of 9 per 1000 births with an estimation of more than 200,000 children born with congenital heart disease.

On the occasion of congenital heart defect awareness week, let’s learn and get educated about the different types, causes, symptoms, and treatment of this common birth defect.

What Is Congenital Heart Defect?

The word “congenital” means present from birth. So congenital heart defect, as the name suggests, is a defect that develops normally before birth. This means that the heart walls, heart valves, or blood vessels near the heart, fail to develop properly during the developmental stage leading to an abnormality. There are different types of CHD which are broadly divided based on the parts affected.

Heart valve defects which interferes with the heart’s ability to pump blood properly due to closing up or leaking of the heart valve.

Heart wall defects are resulted when the walls that separate the right and left chambers, or the upper and lower chambers of the heart, fail to develop properly impairing blood flow. This can put added pressure on the heart which can also increase the risk of high blood pressure.

Blood vessel defects can cause blockage of the arteries or veins that supply blood to and fro the heart  or reduce the blood flow due to structural abnormality leading to health complications.

Some of the common congenital heart defects include:

Aortic Valve Stenosis (ASD): A condition in which the aortic valve (a valve that supplies blood from the heart to other parts of the body) does not properly open and close and may also leak blood which causes pressure buildup in the heart leading damage.

Atrial Septal Defect (ASD): In this, there is a defect (a hole) in the wall that separates the upper two chambers of the heart (atria). This causes mixing up of oxygenated and deoxygenated blood in the heart. 

Coarctation of the Aorta (CoA): It causes narrowing of the aorta (major artery) that carries blood from the heart to other parts of the body, thus affecting blood flow and leading high blood pressure and heart damage.

Single Ventricle Defects: It is a rare condition in which one of the lower chambers (ventricles) of the heart may be underdeveloped, smaller or missing a valve. This can affect blood circulation and thus, lead to breathing problems. These include hypoplastic left heart syndrome (underdeveloped ventricle), tricuspid atresia (missing tricuspid valve) or pulmonary atresia (missing pulmonary valve).

Ventricular Septal Defect: A condition in which a hole appears in the wall separating the two lower chambers of the heart (ventricles) which leads to mixing up of blood and risk of high blood pressure or reduced oxygen supply to the body.

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What Causes Congenital Heart Defects?

Although researchers have not yet identified what exactly causes congenital heart defects, there are a few suspected theories which include:

Genes: A gene defect that runs in the family which increases the risk of a defect in the child

Environmental exposure: An exposure to certain drugs (prescription or illegal) during pregnancy or viral infections that can affect the child’s heart development.

How Is Congenital Heart Defect Diagnosed?

In most cases, CHD is detected during a pregnancy ultrasound following an abnormal heartbeat. So your doctor might recommend investigative tests such as echo-cardiogram, X-ray or MRI to diagnose the exact condition. However, in some cases, no defects are detected during ultrasound but symptoms tend to appear shortly after birth. These could be:

-Bluish coloration of the lips, skin, fingers or toes

-Difficulty in breathing

-Chest pain

-Feeding problems

-Low birth weight

In some cases, symptoms may not appear for many year after birth and once they develop, these may include:




-Abnormal heart rate


-Trouble breathing

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How Is Congenital Heart Defect Treated?

The treatment approach is based on the type and severity of the defect which includes:

Medications are aimed at improving blood circulation in the body by preventing formation of clots or controlling irregular heart rate.

Implantable devices such as pacemakers or defibrillators help in regulating irregular heart beat.

Surgery may involve catheterization procedures (where a thin tube is inserted in the body to repair structural abnormality) or open-heart surgery (where the heart is cut open to repair the valves, holes or blockages in the blood vessels) 

Heart transplant is advised if all the other treatment options fail to fix the defect. As you may know, in this the defective heart is replaced with a healthy heart from a donor.

Can Congenital Heart Defect Be Prevented?

As the exact cause of CHD is not known, the prevention is based on controlling the risk factors.  As exposure to environmental toxins during pregnancy is one of the key risk factors, women planning to get pregnant are advised to take a note of certain tips to lower their risk of CHD. These include:

-Consult your doctor about the medications you are taking as certain prescription drugs can affect the development of the heart in the fetus.

-If you have a family history of congenital heart defects, it is wise to go for a genetic screening and learn the chances of CHD in your baby.

-Stay protected from infections as certain infections can up the risk of CHD. Talk to your doctor about ways to prevent rubella or measles including vaccinations.

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Bottom line: With advances in the treatment options, infants with CHD are leading a healthier and longer life. However, they need to go for routine checkups to keep a close watch on their condition and prevent health complications (if any).

(The article is reviewed by Dr. Swati Mishra, Medical Editor)

Recommended Reads:

Medical Tests That Are A Must During Pregnancy

Heart Health: 5 Tips By A Cardiologist For A Healthy Heart


1. Bhardwaj R, Kandoria A, Marwah R, et al. Prevalence of congenital heart disease in rural population of Himachal – A population-based study. Indian Heart J. 2016 Jan-Feb;68(1):48-51.

2. Saxena A, Mehta A, Sharma M, et al. Birth prevalence of congenital heart disease: A cross-sectional observational study from North India. Ann Pediatr Cardiol. 2016 Sep-Dec;9(3):205-9.

3. Saxena A. Congenital Heart Disease in India: A Status Report. Indian Pediatr. 2018 Dec 15;55(12):1075-1082.

4. About Congenital Heart Defects. The American Heart Association.

5. What are Congenital Heart Defects? Centres for Disease Control and Prevention (CDC).

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