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Cyanotic Heart Diseases

Last updated Jan. 15, 2019

Approved by: Maulik P. Purohit MD, MPH

Cyanotic Heart Diseases are a group of heart defects that result in cyanosis (bluish discoloration of the skin).

What are the other Names for this Condition? (Also known as/Synonyms)

  • Bidirectional Shunt of Heart
  • Right-to-Left Cardiac Shunt
  • Right-to-Left Circulatory Shunt

What is Cyanotic Heart Diseases? (Definition/Background Information)

  • Cyanotic Heart Diseases are a group of heart defects that result in cyanosis (bluish discoloration of the skin)
  • In general, the blood returning from different parts of the body is low in oxygen. It then flows from the right side of the heart to the lungs and gets rich in oxygen. It then returns to the left side of the heart, from where, the blood is distributed to all parts of the body
  • In children with Cyanotic Heart Diseases, this blood flow direction is changed and thus, the blood flowing from left side of the heart to the body is low in oxygen. This makes the body appear pale, because of the deficient oxygen content of blood
  • Some of the risk factors associated with the condition include viral infections or uncontrolled diabetes in pregnant women and alcohol consumption during pregnancy
  • Cyanotic Heart Diseases signs and symptoms may include shortness of breath, very low levels of oxygen ‘spells’, loss of weight, puffy face and eyes, clubbed fingers, dizziness, and fainting
  • Surgical repair of the heart defect is the treatment of choice for children with Cyanotic Heart Diseases. The prognosis is good with early diagnosis and appropriate treatment by experts in the field

Who gets Cyanotic Heart Diseases? (Age and Sex Distribution)

  • Cyanotic Heart Diseases occur in children, usually at the time of birth
  • There is no gender predilection and both males and females are affected
  • The condition is observed worldwide; all racial and ethnic groups may be affected

What are the Risk Factors for Cyanotic Heart Diseases? (Predisposing Factors)

The risk factors associated with Cyanotic Heart Diseases include:

  • Rubella virus infection during pregnancy
  • Infants born to diabetic mothers
  • Drinking alcohol during pregnancy

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cyanotic Heart Diseases? (Etiology)

Cyanotic Heart Diseases may be caused by a variety of medical conditions and disorders. Heart-related conditions may include:

  • Tetralogy of Fallot
  • Transposition of great arteries
  • Truncus arteriosus (persistent)
  • Tricuspid atresia
  • Total anomalous pulmonary venous return (TAPVR)
  • Coarctation or complete interruption of the aorta
  • Ebstein's anomaly
  • Hypoplastic left heart syndrome

Genetic and chromosomal syndromes that may cause Cyanotic Heart Diseases include:

  • DiGeorge syndrome
  • Down syndrome
  • Marfan syndrome
  • Noonan syndrome
  • Trisomy 13
  • Turner syndrome

Other factors that may result in Cyanotic Heart Diseases include:

  • Chemical exposure
  • Poorly controlled diabetes during pregnancy
  • Infections caused during pregnancy such as due to rubella virus

What are the Signs and Symptoms of Cyanotic Heart Diseases?

Cyanosis, or the appearance of blue-colored skin, is the most common sign of this heart defect. The other common signs and symptoms that are associated with Cyanotic Heart Diseases may include:

  • Dyspnea (shortness of breath)
  • Anxiety
  • Anoxic spells; spells when there is extremely poor oxygen levels
  • Weight loss        
  • Puffy face and eyes, clubbed fingers
  • Dizziness, fainting, or heart palpitations
  • Grayish skin
  • Tiredness
  • Convulsions

How is Cyanotic Heart Diseases Diagnosed?

The diagnosis of Cyanotic Heart Diseases may involve:

A complete physical examination which may show:

  • Cyanosis (bluish discoloration of the skin)
  • Clubbing of fingers

Other diagnostic tests may include:

  • Chest x-ray
  • Complete blood count (CBC)
  • ECG: A test to assess electrical activity of the heart
  • Cardiac catheterization: The passage of a thin catheter into the right or left side of the heart to diagnose (and may be treat) cardiovascular conditions
  • An echocardiography may be performed to observe the structural abnormality of heart
  • Checking oxygen levels in blood through the skin using a pulse oximeter
  • Checking oxygen levels in blood using an arterial blood gas test

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cyanotic Heart Diseases?

The complications associated with Cyanotic Heart Diseases are:

  • Abnormal heart rhythms, which may cause sudden deaths
  • Chronic high blood pressure in the blood vessels of the lungs
  • Heart failure
  • Infections in the heart
  • Stroke

How is Cyanotic Heart Diseases Treated?

Some congenital heart conditions can be cured over time using medications alone, while some may require surgical corrections. Infants may receive medicines to:

  • Treat abnormal heartbeat
  • Increase the rate of heart
  • Eliminate extra fluid from the body

However, the treatment of choice for Cyanotic Heart Diseases is surgical repair of the defect. The choice of surgical procedure depends upon the type of the defect. Surgery may be performed soon after birth, or it may be delayed for a few years depending upon the condition of the child.

How can Cyanotic Heart Diseases be Prevented?

The preventive measures for Cyanotic Heart Diseases may include:

  • Pregnant women should avoid alcohol consumption during the entire period of their pregnancy
  • Pregnant women with manic-depression disorder should be treated properly or consult a psychiatrist
  • Evaluation of the immune status of rubella at the early stage of pregnancy
  • Women who are pregnant and are diabetic should take extreme precaution to keep their blood sugar levels and weight under control

What is the Prognosis of Cyanotic Heart Diseases? (Outcomes/Resolutions)

  • The prognosis of Cyanotic Heart Diseases depends upon the severity of the heart abnormalities causing cyanosis
  • Children diagnosed with the condition at a very early stage can be treated better. The prognosis is good with early diagnosis and suitable treatment
  • Once diagnosed, the child should continue to have regular health monitoring by a cardiologist to avoid the risk of developing heart disease as they grow up

Additional and Relevant Useful Information for Cyanotic Heart Diseases:

Most congenital heart defects are found during a pregnancy ultrasound scan.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 2, 2015
Last updated: Jan. 15, 2019