Children's Hospital Colorado

Congenital Heart Defects (CHD)

What are congenital heart defects?

"Congenital" means a condition is present at birth. Congenital heart defects (also called congenital heart disease, or CHD) are the most common birth defects. Infants born with a congenital heart defect have abnormal structure to their heart, which can affect the way the heart works and how blood flows through the heart to the rest of the body. Approximately one out of every 100 babies is born with a CHD.

Some forms of congenital heart disease cause little or very few problems in the health, growth and development of the infant. Other forms are more serious and require interventions like cardiac catheterization or heart surgery for the child to survive and thrive.

In decades past, most children with serious or critical CHDs did not survive. But with advancements in diagnostic technologies, research, cardiac care and surgical treatment, CHDs are being diagnosed sooner – often even before the baby is born – and children born with a CHD are living longer, healthier lives. In fact, most CHD patients are now living into adulthood. Although there are treatments for many different CHDs, there is no cure. Congenital heart disease is a lifelong disease requiring ongoing monitoring and specialized care.

At Children's Hospital Colorado, both the Colorado Fetal Care Center and the Heart Institute may be involved in diagnosis, treatment and follow up care for patients with CHDs.

Types of congenital heart defects (CHDs)

There are numerous heart defects, with many additional variations due to subtle differences in anatomy. Congenital heart defects range from minor, such as having a small hole in the heart, to severe, such as missing parts of the heart.

Depending on the defect, different parts of the heart may be affected, such as:

  • Septum: A wall made of muscle that divides the heart into two halves. In a normal heart the atria are separated by a septum and the ventricles are also separated by a septum.
  • Chambers: Four "holding areas" that pump blood in and out of the body and lungs. Each half of the heart has two chambers: the atrium and the ventricle.
  • Heart valves: Four one-way "gates" (one for each chamber) meant to keep blood moving in the right direction through the heart. Each valve opens so that blood can flow into the next chamber, and then closes so it can't go backwards.
  • Veins and arteries: Blood vessels that serve as the "highway system" for the body's blood supply.

The following conditions are examples of different congenital heart defects:

* Critical congenital heart defects

What is critical congenital heart disease?

Approximately one in four babies diagnosed with a heart defect has what's called critical congenital heart disease (CCHD). Infants with critical CHD face a higher risk of health complications and death if they are not diagnosed in utero (in the womb) or soon after birth. Babies who do survive are at greater risk for brain injury and developmental delays if intervention is delayed.

Learn about other cardiac conditions we treat, including fetal heart conditions and pediatric heart conditions in infancy and childhood.

What causes congenital heart disease?

Congenital heart defects occur when the heart does not develop normally during the early weeks of the mother's pregnancy. The exact reason this occurs is unknown, but research is ongoing. The following factors have been associated with CHD – meaning these may or may not play a role:

How common are congenital heart defects?

CHDs are the most common type of birth defect, affecting nearly 40,000 births in the U.S. each year, or approximately 1 in 100 babies. The Centers for Disease Control and Prevention (CDC) estimate that more than 2 million people in the U.S. are living with a congenital heart defect.

What are the signs and symptoms of congenital heart defects?

The signs and symptoms of congenital heart defects can vary according to the defect and its severity.

Signs of fetal heart defects during pregnancy

Expectant mothers carrying a baby with a fetal heart defect do not experience any outward signs of CHD. An obstetrician (OB) or maternal fetal medicine specialist (MFM) may suspect a fetal heart problem during prenatal ultrasound. They would then refer the patient to a fetal cardiologist to make or confirm the diagnosis.

If a CHD is detected in utero, it gives the family time to understand the diagnosis, evaluate for additional fetal abnormalities and make pregnancy decisions based on their personal values. For families electing to continue the pregnancy, prenatal diagnosis allows the doctors and family to optimize fetal monitoring, design a safe and timely delivery and plan for medical care that may be needed immediately after birth.

Learn about other fetal heart conditions that can develop during pregnancy.

Signs of congenital heart disease in babies and children

Signs and symptoms of CHDs vary depending on the type and severity of the specific defect. Some heart defects cause little or no symptoms. Others cause serious symptoms right at birth.

Because CHDs affect the heart's ability to pump blood to the rest of the body, congenital heart defects can produce signs including:

  • A blue tint to the nails, lips or skin (called cyanosis)
  • Fast or troubled breathing
  • Tiredness and sleepiness, especially when feeding
  • Sweating, especially during feedings
  • Failure to gain weight (failure to thrive)
  • Weak pulse

How are congenital heart defects diagnosed?

A majority of serious congenital heart defects can be detected and diagnosed before the baby is born. For those babies with heart problems not detected in the womb, most are diagnosed soon after birth thanks to newborn screening programs. Some minor forms of congenital heart defects are more difficult to detect early in life and may not be diagnosed until later in childhood.

In some cases, these conditions go undiagnosed until a person becomes an adult. Both children with CHD who grow up to become adults and the adults who are not diagnosed until much later in life have what is known as adult congenital heart disease, which requires specialized, lifelong care.

Diagnosing congenital heart defects prenatally

Using a special type of ultrasound called a fetal echocardiogram (or ECHO), our fetal cardiology specialists can diagnose a majority of CHDs before birth – specifically, structural cardiac defects and cardiac arrhythmias.

During fetal echocardiography, sound waves are used to create a picture of the baby's developing heart. The fetal cardiologist then uses these ultrasound pictures to determine if the anatomy is abnormal and diagnose any fetal heart problems. An obstetrician may refer an expecting mother for a fetal echo if:

  • There's a family history of CHD
  • The fetus has a chromosomal (genetic) condition like Down syndrome
  • The mom has chronic medical condition associated with congenital heart disease, such as diabetes, lupus or Sjogren's syndrome
  • The screening ultrasound shows signs of heart disease or abnormal heart rhythm

Diagnosing congenital heart disease in babies and children

Even without a fetal diagnosis, almost all serious or critical congenital heart diseases are caught before the baby is sent home from the hospital thanks to screening programs for CHD, such as pulse oximetry (pulse ox). A pulse ox is a painless test that uses a sensor to check the amount of oxygen in the baby's blood.

If a newborn or child exhibits signs and symptoms of a heart defect and a CHD is suspected, your child will be referred to our Heart Institute to undergo evaluation by our nationally-ranked pediatric cardiology team.

Cardiac evaluations may include the following diagnostic tests:

Your cardiologist will determine if any of these tests are needed.

How are congenital heart defects treated?

Not all congenital heart defects require treatment, but for those that do, treatment can vary from minor to invasive, like open heart surgery. Your cardiology team will guide your child's care to ensure they receive the best monitoring and treatment for their particular congenital heart defect. Treatment for congenital heart defects can include:

Why choose Children's Colorado to treat your child's heart condition

At Children's Colorado, the multidisciplinary team at our nationally-ranked Heart Institute cares for patients with congenital heart defects.

Our Cardiology Program has some of the best patient outcomes of any pediatric hospital in the nation thanks to our dedicated team of cardiology experts.

See why our outcomes make us one of the top heart hospitals

Labor and delivery for pregnancies with cardiac complications

For certain severe CHDs, babies may need cardiac intervention immediately after delivery. Babies born with a critical heart defect that wasn't diagnosed prenatally may be separated from their mothers as they're transferred to a different department or facility with cardiac capabilities upon birth.

But here at the Colorado Fetal Care Center at Children's Colorado, we keep moms and babies close together. With state-of-the-art delivery suites, a Cardiac Intensive Care Unit (CICU) and dedicated Maternal Fetal Care Unit (MFCU), we're able to provide the full range of fetal, obstetric and pediatric expertise you and your baby need – before, during and after delivery.

In our Fetal Cardiology Program, your baby will be delivered into the capable hands of the pediatric cardiology specialists they need. And while you recover from your delivery in the MFCU, you'll be just a floor away from where your baby is recovering from treatment in the CICU.

And if your baby is transferred here from another hospital after delivery, you can be transported as well to recover just steps away from your child.

A lifetime of care for congenital heart disease

From pregnancy through adulthood, Children's Colorado's Heart Institute has the expertise to care for individuals diagnosed with congenital heart defects. No matter when the patient is diagnosed, be it in infancy, childhood or even adulthood, we are equipped to provide expert and compassionate care for simple to complex heart defects.

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