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Cyanotic Congenital Heart Disease

Cyanotic Congenital Heart Disease

Cyanotic congenital heart disease (CCHD) is a condition present at birth. CCHD causes 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 including chest X-rays and echocardiograms can confirm the presence of defects causing cyanotic heart disease. Medication can help relieve symptoms of cyanosis. Ultimately, most infants 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 this 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 CCHD. This includes:

  • Down syndrome
  • Turner syndrome
  • Marfan syndrome
  • Noonan syndrome

In some instances, outside factors can cause this disease. If a pregnant woman is exposed to toxic chemicals or illegal drugs, it can lead to heart defects in the infant. Infections during pregnancy are also a factor. Poorly controlled gestational diabetes can also cause CCHD.

Defects That Cause Cyanotic Congenital Heart Disease

There are many physical defects in the heart that can cause CCHD. Some infants may be born with several defects. Common causes can include:

Tetralogy of Fallot (TOF)

TOF is the most common cause of CCHD. It’s actually a combination of four different defects. That’s why it’s called "tetralogy" (meaning 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 oxygen and blood 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 have switched positions with their arteries. . This results in low-oxygen blood getting pumped out to the rest of the body through the aorta. This blood should actually go to the lungs through the pulmonary artery.

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. Low-oxygen blood is pumped out to the body as a result.

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. The veins should be connected to the left atrium. This defect 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 CCHD is cyanosis, or the blue coloring of the skin. This often occurs in the lips, toes, or 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.

Symptoms of TOF

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

Symptoms of TGA

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

Symptoms of Tricuspid Atresia

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

Symptoms of 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

Symptoms such as cyanosis, rapid heartbeat, and clubbed fingers can lead a doctor to suspect heart defects are present. The observation of symptoms isn’t enough to make a diagnosis, though. To understand what defects are present, tests are required.

A chest X-ray can show the outline 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 test gives more details than an X-ray image.

A cardiac catheterization is a more invasive test that’s often needed to investigate the interior of the heart. This test 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 CCHD may or may not be necessary depending on the severity of symptoms. In many cases, 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 CCHD varies based on the severity of the underlying defects present. 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.

Content licensed from:

Written by: Mary Ellen Ellis
Medically reviewed on: Jan 20, 2016: Karen Gill, MD

This feature is for informational purposes only and should not be used to replace the care and information received from your health care provider. Please consult a health care professional with any health concerns you may have.
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