Congenital heart disease

What is congenital heart disease?

Congenital heart disease is a collective term for a range of birth defects that affect the heart. These include defects within:

  • the heart walls
  • the heart valves
  • the arteries and veins near the heart.

Blood flow can slow down, go in the wrong direction or become completely blocked.

Congenital heart disease affects approximately six in every 1,000 births in England. Many children with the condition do not require treatment, but others may need to undergo a range of treatments, including medication and surgery and ongoing monitoring to track progress.


Causes of congenital heart disease

Congenital heart disease is normally caused when the development of the heart is disrupted, usually around week five of pregnancy.

Although a number of risk factors have been identified, in most cases the exact cause is unknown.

Risk factors include:

  • genetic conditions such as Down syndrome, Turner syndrome or Noonan syndrome
  • maternal diabetes, an infection of rubella during early pregnancy or flu during the first trimester
  • heavy drinking during pregnancy
  • continued use of certain anti-seizure medications, acne medications or ibuprofen.

Symptoms of congenital heart disease

Symptoms of congenital heart disease vary according to the type of heart defect and the severity of the condition. However, general signs include:

  • fatigue
  • rapid heartbeat
  • rapid breathing
  • cyanosis (a blue tinge to the skin, nails and lips)
  • clubbed fingernails.

In more severe cases, these symptoms develop shortly after birth. Individuals with minor defects, however, may not experience any adverse symptoms.


Diagnosis of congenital heart disease

Congenital heart disease is often detected during pregnancy via ultrasound scans, or directly after birth. Although, some people do not get diagnosed until they are much older.

Congenital heart disease can be diagnosed via a physical exam and through diagnostic tests for heart conditions, see: specialist heart tests.


Treatment of congenital heart disease

Treatment for congenital heart disease depends on the type of heart defect experienced, the severity of the condition and the child’s age.

Mild defects usually don’t need to be treated although regular check-ups are recommended to monitor the condition.

Children with more severe heart defects may require a number of heart treatments including:

  • medication
  • transcatheter procedures
  • surgery such as a balloon valvuloplasty
  • valve repair or replacement
  • a heart transplant, in some cases.

Case Studies

Combined Expertise Helps Child with Rare Heart Defect

RBHH consultant Dr Ghez teamed up with Brazilian heart surgeon, Dr Da Silva, to provide pioneering heart surgery for a four year old patient.
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Patient Video: Congenital heart disease treatment

Raghad was born with a rare heart defect. Watch this video to find out how her heart condition was treated...
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