Congenital Heart Disease

Congenital Heart Disease

Congenital heart disease is when a person has one or more problems with the heart’s structure existing since birth. Congenital heart disease in adults and children may change the way blood flows through the heart.

One of the most frequently diagnosed congenital disorders is congenital heart disease affecting approximately 0.8% to 1.2% of live births worldwide. In India, 50% of the cases of CHD are diagnosed between o to 5 years of age.

People with congenital heart disease may require lifelong medical care and in many cases treatment entails regular checkups (watchful waiting), medications or even surgery.

What are the symptoms of congenital heart disease?

In some cases, congenital heart disease are not diagnosed till a later stage. In some, the symptoms may return years after treatment of the disease.
Common symptoms in adults include:

  • Irregular heart rhythms (arrhythmias)
  • Shortness of breath
  • Problems exercising – feeling tired quickly upon doing any activity.
  • Swelling of body tissue or organs (edema)
  • Bluish tint to the skin, fingernails, and lips (cyanosis)

What are the causes and risk factors of congenital heart disease?

There is still no known cause of most types of congenital heart disease, but certain factors make the disease more likely. These risk factors are:

Genetics: Congenital heart disease may be passed down from one generation to another in the family (inherited) and be associated with other genetic conditions such as Down’s syndrome.

German measles (rubella): Having rubella (viral infection) during first trimester of pregnancy affects the heart development of the baby in the womb.

Diabetes: Women with diabetes may affect a baby’s heart development but gestational diabetes (diabetes developed during pregnancy and goes once the baby is born) doesn’t increase the risk of congenital heart disease.

Medications: Certain medications during pregnancy may cause congenital heart disease and other birth defects. Some of them are lithium (bipolar disorder) and isotretinoin (used to treat acne) and painkiller such as ibuprofen.

Alcohol: Excessive alcohol consumption while being pregnant has been linked to an increased risk of heart defects in the baby.

Smoking: Increases the risk of congenital heart defects in the baby.

What are the types of congenital heart disease?

Most types depend on the type of structure affected:

Heart valve defects: The valves may be too narrow or closed which makes it hard for the blood flow.

Heart’s “walls”: Walls between one of the chambers (atria and ventricles) of the heart may have holes causing the blood to mix when it shouldn’t.

Heart’s muscle: May lead to heart failure, meaning the heart doesn’t pump blood efficiently.

Bad connections among blood vessels: In babies, faulty connections may result in the flow of the blood to other parts of the body instead of lungs, or vice versa resulting in less oxygen. This can lead to organ failure.

How is congenital heart disease diagnosed?

During pregnancy, before birth: A foetal echocardiogram: Using pictures by an ultrasound the motion of the heart is seen to check if there are problems with its valves and structure. Echocardiography may also be conducted which is a type of ultrasound scan, where high-frequency sound waves are used to create an image of the heart. Gene testing: A small blood sample before or during your pregnancy is taken and tested, since family history of an abnormality may increase chances of disease by as much as 50%. In childhood
  • Electrocardiogram (ECG or EKG):
    • Quick and painless test procedure to measure the electrical activity of the heart.
    • Sensors (electrodes) are attached to the chest, wires connect the sensors to a machine, displaying or printing the results.
    • ECG helps to determine if blood flow to the heart has been reduced.
  • Chest X-ray:
    • To look at the structures in and around the chest and to help diagnose and monitor conditions such as pneumonia, heart failure, lung cancer, tuberculosis, sarcoidosis, and lung tissue scars (fibrosis)
  • Echocardiogram: Sound waves are used to show blood flow through the heart. This assesses the condition of the heart, if oxygen flow is restricted to heart or any of the heart valves.
  • Pulse oximetry: The oxygen level in the child’s blood is measured through a finger sensor. Too little could signal a heart problem.
  • Cardiac catheterization and angiogram: To check if coronary arteries are narrowed or blocked. A dye is inserted in a blood vessel through a long, thin flexible tube (catheter), and guided to the heart and flows through the catheter to arteries in the heart. This dye provides a clearer picture on images taken during the test.

In adults – The doctor might find issues during a routine physical, or some might notice symptoms at later stage of adulthood by routine testing.

What are the treatment options for congenital heart disease?

Treatment depends on the specific defect of the child. Most congenital heart disease may often be treated successfully in childhood. Treatments may include medications and surgery.

Can Congenital heart disease be prevented?

Some types of congenital heart disease occur in families (inherited). If you have or someone in your family has congenital heart disease, screening by a genetic counselor may help determine the risk of certain heart defects in future children.


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  2. Dixit R, Rai SK, Yadav AK, Lakhotia S, Agrawal D, Kumar A, Mohapatra B. Epidemiology of Congenital Heart Disease in India. Congenit Heart Dis. 2015 Sep-Oct;10(5):437-46.
  3. Congenital heart disease. NHS UK. March 2024.
  4. Congenital heart disease. Mayo Clinic. March 2024.
  5. Congenital heart disease WebMD. March 2024.

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