Congenital Heart Disease (Defect)

Dr. Nabi Darya Vali (AIIMS)MBBS

November 30, 2018

March 06, 2020

Congenital Heart Disease
Congenital Heart Disease

What is congenital heart disease?

Congenital heart diseases, or congenital heart defects, are among the most common structural defects involving the development of the heart or its blood vessels. A hole between the heart chambers (defect in the septal wall), narrowing of the main blood vessel of the heart (aorta) and pulmonary vein stenosis (narrowing of the vein of the lung) are some of the common congenital heart defects.

What are its main signs and symptoms?

In adults, if left untreated and still persisting, certain symptoms may be seen, including:

In many cases, patients show very few or no signs and symptoms.

Signs and symptoms seen in severe cases include:

  • Rapid breathing
  • Excessive sweating
  • Chest pain
  • Cyanosis - skin, lips and fingernails appear bluish
  • Fatigue
  • Abnormal blood circulation
  • Failure to thrive
  • Poor feeding in babies due to dyspnoea

What are its main causes?

The most common causes are disturbances of the internal environment during early development of foetus inside the mother’s womb. Factors include:

  • Infections
  • Exposure of pregnant mother to harmful drugs
  • Smoking or alcohol intake by pregnant mother
  • Socio-demographic and environmental factors

Other causes include:

  • Faulty genes and chromosomes
  • Family history of congenital heart defects
  • Parental illnesses also put child at risk of congenital heart defects

How is it diagnosed and treated?

  • During pregnancy:
    • Ultrasound scans may help detect congenital heart defects in the foetus. In some cases, this may be detected as early as 20 weeks. (Read more: Pregnancy ultrasound tests)
    • Antenatal (foetal) echocardiography is also useful in detecting congenital heart defects in the foetus.
  • During childhood:

Proper diagnosis requires a thorough medical history and physical examination of the patient along with the following tests:

  • Electrocardiogram (ECG)
  • Chest X-ray
  • Echocardiogram 
  • Pulse oximetry for screening
  • During adulthood:

A number of diagnostic tests along with physical examination aid the doctor in detecting congenital heart defects in adults. These include:

  • Echocardiogram
  • Trans-oesophageal echocardiogram
  • Intravascular ultrasound (IVUS)
  • Cardiac catheterisation
  • Chest X-ray
  • ECG
  • Magnetic resonance imaging (MRI)
  • Positron emission tomography (PET) scan

Treatment of patients with congenital heart defects is decided by the severity of the defect and involves:

  • No treatment
  • Periodic check-ups by a cardiac specialist
  • Medications which also include prophylaxis for endocarditis
  • Invasive surgery for closure or repair of defects


  1. American Heart Association, American Stroke Association [internet]: Texas, USA: Care and Treatment for Congenital Heart Defects
  2. British Heart Foundation. Congenital heart disease. England & Wales. [internet].
  3. Cleveland Clinic. [Internet]. Cleveland, Ohio. Heart Disease: Adult Congenital Heart Disease: Management and Treatment
  4. MedlinePlus Medical Encyclopedia: US National Library of Medicine; Heart Health Tests
  5. National Heart, Lung, and Blood Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; Congenital Heart Defects