Diseases & Conditions


Congenital Heart Defects

Diseases & Conditions


What are congenital heart defects?

A congenital heart defect is a problem with the structure of the heart that arises from abnormal formation of the heart or major blood vessels. The problems can involve the interior walls of the heart, the valves inside the heart or the blood vessels that carry blood to the heart.

Congenital heart defects are the most common types of birth defects accounting for one-third of all major congenital anomalies.1

In Saudi Arabia, the prevalence of congenital heart defects is comparable to that in other developing countries. A study has shown that the incidence of severe congenital heart defects is approximately 5.4 per 1,000 live births per year in the kingdom.2


What causes congenital heart defects?

Doctors do not know yet what causes congenital heart defects. During the first weeks of pregnancy, the heart begins to develop. At this point some factors could play a role to cause heart defects. Potential causes include:3

  • Family history: Heredity may play a role in some heart defects. For example, if a parent has a congenital heart defect, it may increase the risks of having a child with the condition.
  • Genetic disorders such as children with Down syndrome often have congenital heart defects.
  • Smoking during pregnancy could also cause congenital heart defects


What are the types of congenital heart defects?

There are many different types of congenital heart defects:4

  • Holes in the heart: The wall of the heart separates between the left and the right chambers of the heart. The left chamber contains oxygen-rich blood while the right chamber contains oxygen-poor blood. A hole in the wall of the heart allows the blood to mix and the organs of the body will no longer receive enough oxygen from the heart.
  • Obstructed blood flow: The valves of the heart control the flow of blood from the atria to the ventricles and from the ventricles into the two large arteries connected to the heart. In some cases, these valves are narrow and the heart cannot function properly.
  • Abnormal blood vessels: Blood vessels that carry blood to and from the heart could be defected and hence inducing congenital heart defects.
  • Heart valve abnormalities: Defect occurs if a valve does not open or close tightly. As a result, blood leaks back through the valve.
  • An underdeveloped heart: In some congenital heart disease, a portion from the heart fails to develop completely.
  • A combination of defects: Some babies are born with more than one heart defect.


What are the signs and symptoms of congenital heart defects?

Many less serious congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Signs and symptoms of severe defects in newborns include:5

  • Rapid breathing
  • Cyanosis: Pale gray or blue skin, lips, and fingernails
  • Fatigue
  • Poor blood circulation


How are congenital heart defects diagnosed?

Congenital heart defects diagnosis is made during pregnancy or after the child’s birth:6

  • During pregnancy:
    • An ultrasound test can show a probable congenital heart defect
    • A fetal echocardiography can confirm the presence of a defect at around 18 to 22 weeks of the pregnancy


  • Diagnosis after birth:
    • Physical examination of the signs and symptoms of congenital heart disease such as a blue skin
    • Echography is used to check the inside of the heart
    • Electrocardiogram is a test that measures the electrical activity of the heart
    • Chest X-ray can show an abnormal size of the heart or whether there is blood in the lungs
    • Pulse oximetry is a test that measures the amount of oxygen present in the blood
    • Cardiac catheterization is a useful way see how the blood is being pumped through the heart


How are congenital heart defects treated?

Serious heart defects require treatment depending on the type of heart defect:7

  • Procedures using catheterization: This technique allows repairing the heart without opening the chest. It consists of sending a catheter via a leg vein to the heart to repair the defect
  • Open-heart surgery: If using a catheter does not work, an open-heart surgery is needed. This technique requires stopping the heart temporarily in order to correct the defect.
  • Heart transplant: If a serious heart defect cannot be repaired, a heart transplant may be an option.
  • Medications: Some congenital heart defects can be treated with medications that help the heart work efficiently, such as:
    • Angiotensin-converting enzyme inhibitors
    • Angiotensin II receptor blockers
    • Beta blockers
    • Diuretics
  • Long-term treatment: Some patients will require a life-long monitoring and treatment including exercise restrictions and prevention from infections such as an antibiotic treatment



  1. Van Der Linde, Denise, et al. "Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis." Journal of the American College of Cardiology 58.21 (2011): 2241-2247.
  2. Alenezi, Amirah M., et al. "The epidemiology of congenital heart diseases in Saudi Arabia: A systematic review." Journal of Public Health and Epidemiology 7.7 (2015): 232-240.
  3. What Causes Congenital Heart Defects? (- NHLBI, NIH) http://www.nhlbi.nih.gov/health/health-topics/topics/chd/causes (Accessed December 20, 2015)
  4. Congenital heart defects in children (Causes) http://www.mayoclinic.org/diseases-conditions/congenital-heart-defects/basics/causes/con-20034017 (Accessed December 20, 2015)
  5. Congenital Heart Defects: MedlinePlus (U.S National Library of Medicine) https://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html (Accessed December 20, 2015)
  6. Congenital heart disease - Diagnosis (Congenital heart disease) http://www.nhs.uk/Conditions/Congenital-heart-disease/Pages/Diagnosis.aspx (Accessed December 20, 2015)
  7. Congenital heart defects in children (Treatments and drugs) http://www.mayoclinic.org/diseases-conditions/congenital-heart-defects/basics/treatment/con-20034017 (Accessed December 20, 2015)