Categories: Cardiology

What is Cyanotic Congenital Heart Disease?

The human being is flawless machinery in itself. They are natural this way. But sometimes, a few people may be born with physical imperfections. If the imperfection happens in your heart it is called Congenital Heart Diseases. The defect can be of heart chambers, valves, or any main artery.

Cyanosis is a condition where the skin turns bluish due to a lack of oxygen in the circulating blood. Cyanotic Congenital  Heart Disease as evident from its name is one or multiple defects in the heart or any major vessel due to which less oxygenated blood circulates through the body giving it a bluish discoloration.

Causes of Cyanotic Congenital Heart Disease:

  • Defect pertaining to Aorta
  1. Coarctation of the Aorta
  2. Interrupted Aortic Arch
  • Abnormalities with other blood vessels of the heart
  1. d-Transposition of the Great Arteries – Here the two main arteries of the heart, the pulmonary artery that carries deoxygenated blood and the aorta carrying oxygenated blood get transposed. Thus, deoxygenated blood travels to the whole body.
  2. Pulmonary Atresia
  • Tetralogy of Fallot – Tetralogy of Fallot is a defect where four problems co-exist
  1. The hole between the left and right ventricle.
  2. A blocked valve between the right ventricle and pulmonary arteries that take blood for oxygenation to the lungs.
  3. Displaced Aorta.
  4. A thickened right ventricular wall (right ventricular hypertrophy).
  5. Total Anomalous Pulmonary Venous Return where a pulmonary vein is directly connected to the right atrium instead of the left atrium. Most commonly a blockage is also seen in the pulmonary vein.
  6. Tricuspid Atresia – where the tricuspid valve is either defective or absent.

Risk Factors:

  • Family history plays a major risk factor in congenital heart disease development
  • Idiopathic or unknown cause
  • Chromosomal anomalies like Down’s syndrome, Noonan Syndrome, Turner’s syndrome, Marfan’s syndrome, and the like
  • Drug or alcohol abuse during pregnancy
  • Certain Drugs or antibiotics during pregnancy
  • Seizure disorder and its medication during pregnancy
  • Anti-depressives like lithium during pregnancy
  • Autoimmune Disorders like Lupus during pregnancy
  • Rubella during pregnancy
  • Sometimes from assisted reproductive technology like IVF
  • Uncontrolled Gestational Diabetes
  • Obesity
  • Smoking during pregnancy


  • Bluish discoloration of skin and lips, clubbing of nails
  • Troubled or rapid breathing
  • Low weight neonates
  • Irritable and poorly breastfeeding
  • Sleepiness
  • Delayed milestones
  • Tiredness
  • Swelling in feet, ankle, stomach, or face
  • Recurrent respiratory tract infections


  • After birth through history and physical exam, abnormal heart sounds
  • Chest X-ray
  • Electrocardiogram (EKG): A non-invasive test that records the heart’s electrical activity
  • Echocardiogram: A non-invasive test that uses sound waves and creates a moving picture of the heart
  • Cardiac catheterization: A test that involves passing a thin flexible tube (catheter) through the leg into the heart for observation and treatment


  1. Medication Management, symptomatic – Antibiotics, NSAIDs, Blood Thinners, blood transfusion
  2. Surgical Management – Vital surgeries are performed soon after birth. A few procedures can wait until later. More than one procedure may be needed.
  • Cardiac catheterization – It involves passing a thin flexible catheter through the leg into the heart for treatment
  • Open heart Surgery – Valvoplasty or Valve Replacement or repair
  • Heart transplant


Mostly depends upon what type of defect is causing cyanosis. A lot of children with mild defects spend a near-normal life with medication and more. Multiple defects may need surgeries.

Approximately 25,000 surgeries are done every year in India for correcting Cyanotic congenital Heart Diseases with more than 95% survival rate. There is an old saying, “don’t panic till solutions are available.” Solutions are available…

Narayana Health

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