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Cyanotic Congenital Heart Disease
Congenital heart disease results at birth. Learn more about what causes the condition, as well as what symptoms your child may experience.

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Cyanotic Congenital Heart Disease

Cyanotic congenital heart disease (CCHD) is a condition present at birth that results in low levels of oxygen in the blood. A common symptom is a bluish tint to the skin, called cyanosis.

Several defects can cause this type of heart disease, including:

  • issues with the heart valves (the flaps in the heart that make sure the blood flows through in the right direction)
  • an interruption in the aorta (the largest artery in the body)
  • thickened walls of the ventricles (two large chambers) of the heart.

In many cases, more than one defect is present.

Imaging tests like chest X-rays and echocardiograms can confirm the presence of defects causing cyanotic heart disease. Medication can help relieve symptoms of cyanosis, but ultimately, most patients need to have surgery to correct the defects causing the disease. The success of the surgery depends on the severity of the defects.

Risk Factors for Cyanotic Congenital Heart Disease

In many cases, an infant will be born with cyanotic heart disease because of a genetic factor. An infant is more at risk when there is a family history of congenital heart diseases. Certain genetic syndromes can be accompanied by defects that cause cyanotic heart disease, such as Down, Turner, Marfan, and Noonan syndromes.

In fewer instances, outside factors can cause cyanotic heart disease. Exposure of a pregnant mother to toxic chemicals and illegal drugs may lead to heart defects in the infant. Infections during pregnancy are also a factor, as is gestational diabetes that is poorly controlled.

Defects That Cause Cyanotic Congenital Heart Disease

There are many physical defects in the heart that can cause cyanotic congenital heart disease. Some infants may be born with several defects. A few of the defects that are common causes of cyanotic congenital heart disease include:

Tetralogy of Fallot (TOF)

TOF is the most common cause of cyanotic heart disease (Children’s Hospital Colorado). It is actually a combination of four different defects—which is why it is called “tetralogy” (four) of Fallot. TOF includes a hole between the right and left ventricles of the heart, a narrow pulmonary valve, a thickening of the right ventricle muscles, and a misplaced aortic valve. The defects lead to blood with and without oxygen getting mixed together and pumped throughout the body.

Transposition of the Great Arteries (TGA)

In infants with TGA, the pulmonary and aortic valves and their arteries have switched positions. The result is that low-oxygen blood, which should go to the lungs through the pulmonary artery, gets pumped out to the rest of the body through the aorta.

Tricuspid Atresia

In this type of defect, the tricuspid heart valve has developed abnormally or is missing entirely. This causes disruption to the normal blood flow, resulting in low-oxygen blood being pumped out to the body.

Total Anomalous Pulmonary Venous Connection (TAPVC)

TAPVC occurs when veins that bring high-oxygen blood from the lungs to the heart are connected to the right atrium. They should be connected to the left atrium. This may also be accompanied by a blockage in the vein between the lungs and the heart.

Symptoms of Cyanotic Congenital Heart Disease

The classic symptom of cyanotic congenital heart disease is cyanosis, the blue coloring of the skin, which occurs particularly in the lips, toes, and fingers. Another common symptom is difficulty breathing, especially after physical activity. Some children also experience spells during which oxygen levels are very low and they get anxious, exhibit blue skin, and may hyperventilate. Other symptoms of CCHD, listed out below, depend on the exact physical defect.


  • low birth weight
  • cyanosis
  • poor feeding
  • rounded, large fingers (clubbed fingers)
  • delayed growth
  • rapid breathing


  • rapid heartbeat
  • rapid breathing
  • slow weight gain
  • heavy sweating

Tricuspid Atresia

  • cyanosis
  • tiredness
  • shortness of breath
  • difficulty feeding
  • heavy sweating
  • slow growth
  • chronic respiratory infections

TAPVC Without a Blockage

  • shortness of breath
  • chronic respiratory infections
  • slow growth

TAPVC With a Blockage

  • cyanosis
  • rapid heartbeat
  • rapid breathing
  • breathing difficulty, becoming very severe with time

Diagnosis of Cyanotic Congenital Heart Disease

Many of the symptoms of cyanotic congenital heart disease observed in an infant can lead a doctor to suspect defects are present, such as cyanosis, rapid heartbeat, and clubbed fingers. The observation of symptoms, however, is not enough to make a diagnosis. To understand what defects are present, tests are required.

A chest X-ray can show the outside of the heart and the location of several of the arteries and veins. To get another image of the heart, a doctor may order an echocardiogram, which is an ultrasound of the heart. This gives more details than an X-ray image.

A more invasive test that is often needed to investigate the interior of the heart is a cardiac catheterization. This involves moving a small tube, or a catheter, into the heart from the groin or the arm.

Treatments for Cyanotic Congenital Heart Disease

Treatment for a cyanotic congenital heart disease may or may not be necessary depending on the severity of symptoms. In many cases, however, surgery to correct the physical defects in the heart is eventually necessary. When the defect is very dangerous, the surgery may need to be performed soon after birth. In other instances, the surgery can be delayed until the child is older.

If surgery is delayed, a child may be given medications to treat the disease. Medications can help to eliminate extra fluids from the body, get the heart pumping better, keep blood vessels open, and regulate abnormal heart rhythms.

Outlook for Cyanotic Congenital Heart Disease

The outlook for cyanotic congenital heart disease is varies based on the severity of the underlying defects present in the child. In mild cases, the child may be able to live a normal lifestyle with minimal medications or other treatments. In the most severe cases, when surgery is needed soon after birth, the outlook is not as good. Heart surgery on an infant is very risky.

Written by: Mary Ellen Ellis
Edited by:
Medically Reviewed by:
Published: Aug 20, 2012
Published By: Healthline Networks, Inc.
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