Cyanotic Heart Disease

What is cyanotic heart disease?

In congenital heart disease, one or more abnormal heart structures (defects) are present at birth. There are two types:

• Cyanotic congenital heart disease: Cyanotic congenital heart disease (CCHD) involves heart defects that reduce the amount of oxygen delivered to the rest of your body. It’s sometimes called critical congenital heart disease. When a baby is born with CCHD, their skin has a bluish tint, called cyanosis.
• Acyanotic congenital heart disease: Acyanotic congenital heart disease involves defects that don’t interfere with the amount of oxygen delivered to the rest of your body.

How does cyanotic heart disease affect my body?

Your body must have a steady supply of oxygen to function properly. Cyanotic heart disease prevents your body from getting the oxygen it needs. Structural abnormalities in your heart can cause severe complications and even death.

How common is cyanotic heart disease?

Congenital heart disease affects 8 to 9 per 1,000 live births. Of those, about 25% have CCHD.

What kinds of defects can happen with CCHD?

There are three different types of cyanotic heart disease:

Left heart obstructive lesions

These congenital heart defects reduce blood flow between your heart and the rest of your body (systemic blood flow). Specific conditions include:

• Hypoplastic left heart syndrome: Hypoplastic left heart syndrome (HLHS) involves underdeveloped structures in the left side of your heart. The left side of your heart is too small to pump enough blood to the rest of your body.
• Interrupted aortic arch: In interrupted aortic arch, your aorta is incomplete.

Right heart obstructive lesions

These congenital heart defects reduce blood flow between your heart and lungs (pulmonary flow). Specific conditions include:

• Pulmonary atresia: The pulmonary valve is like a door between the right side of your heart and lungs. With pulmonary atresia (PA), the pulmonary valve doesn’t develop correctly or is blocked.
• Tricuspid atresia: The tricuspid valve is between the two chambers (atrium and ventricle) on the right side of your heart. In tricuspid atresia, the valve is not formed correctly. A piece of solid tissue blocks blood flow from the right atrium to the right ventricle.
• Tetralogy of Fallot: Tetralogy of Fallot (TOF) is the most common CCHD. It involves four heart defects.

Mixing lesions

The third type of CCHD is called mixing lesions. These heart defects cause your body to mix pulmonary and systemic blood flow. Specific conditions include:

• Transposition of the great arteries: In this condition, the two main arteries that leave your heart (the main pulmonary artery and the aorta) are reversed. This defect is your second most common CCHD.
• Total anomalous pulmonary venous return (TAPVR): In a baby with TAPVR, oxygen-rich blood doesn’t go from their lungs to the left side of their heart, where it should. Instead, the blood goes to the right side of their heart.
• Truncus arteriosus: In truncus arteriosus, you have only one main artery to carry blood to your body and your lungs, instead of two separate arteries.

What causes cyanotic congenital heart disease?

Scientists don’t fully understand what causes CCHD. Evidence has shown that some cases may be linked to:

• Abnormal chromosomes.
• Genetics.
• Illness in the mother during pregnancy, such as diabetes, phenylketonuria (a blood disorder), drug use or viral infection.

What are the symptoms of CCHD?

Signs of CCHD usually appear in the first few weeks of life but may not be noticed until childhood. Symptoms include:

• Bluish or purple skin (cyanosis).
• Fast breathing (tachypnea).
• Fast heart rate (tachycardia).
• Fluid in the lungs (pulmonary edema).
• Heart murmur (whooshing sound heard through a stethoscope when your heart beats).
• Irritability or lethargy (lack of energy).
• Low levels of oxygen in your body.
• Slow weight gain.
• Sweating or crying during feedings.
• Trouble breathing when exercising in older children.
• Weak pulse.

How is cyanotic heart disease diagnosed?

CCHD may be detected before a baby is born. If a routine fetal ultrasound shows a possible problem with a baby’s heart, the healthcare provider will order a fetal echocardiogram. This test uses an ultrasound device on the mother’s belly or in her vagina to take detailed pictures of the baby’s heart.

After a baby is born, CCHD is usually first noticed by pulse oximetry screening. This simple, painless test uses sensors to measure oxygen levels. It’s part of standard newborn care before a baby is released from the hospital.

Other tests may include:

• Chest X-ray: A chest X-ray takes pictures inside the chest to reveal any structural abnormalities. It can help healthcare providers tell whether the baby has a heart or lung issue.
• Hyperoxia test (oxygen challenge): This test can help healthcare providers determine whether a baby has CCHD or a lung problem. The test measures oxygen in the blood when the baby is breathing normal room air. Then it measures it again after the baby breathes 100% oxygen for 10 minutes.
• Electrocardiogram: Electrocardiogram (EKG or ECG) measures the electrical activity of your heart.
• Echocardiogram: An echocardiogram (echo) uses ultrasound to create images of your heart’s valves and chambers.

How is CCHD treated?

Most babies with CCHD will need treatment to survive, including:

• Oxygen therapy, which provides higher levels of oxygen than normal room air would.
• Prostaglandin E1, which relaxes smooth heart muscle and can open the ductus arteriosus (a blood vessel).
• Surgery to repair defects or redirect blood flow.

How can I prevent CCHD?

Scientists aren’t sure what causes cyanotic heart disease, and there are no proven strategies to prevent it.

What is the outlook for babies with cyanotic heart disease?

Babies with cyanotic heart disease need surgery to survive. Still, mortality is high. About 75% of babies with CCHD survive one year, and about 69% survive 18 years.

Because of low oxygen and congenital heart defects, children with CCHD are at risk for:

• Developmental delays.
• Arrhythmia (abnormal heart rhythm).
• Heart failure.
• Sudden cardiac arrest.
• Stroke.

What should I know about living with cyanotic heart disease?

If you have CCHD, your healthcare provider will likely recommend that you:

• Get routine vaccinations to prevent illness.
• Have regular follow-up appointments and tests, as recommended by your cardiologist.
• Prevent respiratory syncytial virus with good hygiene and limit exposure to those who are sick.
• Take antibiotics before dental procedures to prevent infection.

A note from Cleveland Clinic

Cyanotic congenital heart disease involves defects in your heart that reduce the amount of oxygen throughout your body. Most babies with CCHD will need treatment to survive. Treatments include oxygen therapy and surgery to repair the defects or redirect blood flow.