Genetic Heart Disease

What is Congenital Heart Disease?

Congenital heart disease (CHD) refers to a problem in the structure of the heart or the blood flow through the heart. CHD is the most common birth defect, affecting about 8 out of every 1,000 newborns. Its cause is usually unknown.

If the CHD is serious, called a critical congenital heart defect (CCHD), it needs to be detected and repaired early in a baby’s life to help prevent other related health problems. Newborn screening with pulse oximetry can allow for early detection. Even with newborn treatment, some signs and symptoms may still show up in adulthood.

Symptoms

Your baby may have congenital heart disease if they exhibit the following symptoms:

• Tires easily during feedings (tends to fall asleep very early in the feeding)
• Sweats around the head, especially during feeding
• Is breathing fast when resting or sleeping
• Has pale or bluish skin color
• Sleeps a lot, and when awake isn’t playful or curious for very long
• Has a puffy face, puffy feet, or both
• Is often irritable (fussy), difficult to console

When to See a Doctor

In the hospital or after you go home, contact a provider right away if you notice any of the signs and symptoms of CCHD in your new baby.

Causes

We do not know what causes congenital heart disease, however heredity and genetics may increase the likelihood.

Diagnosis and Tests

Providers often rely on pulse oximetry or “pulse ox” tests to determine if your baby may have congenital heart disease.

Pulse oximetry is a simple test that measures how much oxygen is in the blood. It requires placing a sticky strip, like a band-aid, on the baby’s hand or foot. The strip has a small red light that is the sensor. The sensor is attached to a wire, which is attached to a monitor that shows the pulse ox reading. A pulse ox test takes just a few minutes when a baby is still, quiet, and warm. The testing may take longer (or may need to be delayed) if a baby is squirming, crying, or cold. For this reason, care providers may ask you to help keep your baby warm, calm, and quiet while the test is being performed.

If screening with pulse ox identifies a baby with low oxygen, the care team will probably order additional testing. One common follow-up test is an ultrasound of the heart, or echocardiogram (“echo”). The echo can help the team check for a serious problem in the structure of the heart or the blood flow through the heart.

Treatments

Depending on the severity and age of detection, providers rely on a few different treatment approaches:

• Waiting and monitoring: Some defects may resolve on their own over time
• Medications
• Heart devices such as pacemakers
• Surgery

Prevention

As the causes of congenital heart disease remain widely unknown, prevention methods are also unclear. However, if you have CHD you may be more likely to pass it to your child, so you may want to talk to your obstetrician about genetic counseling.

© 2018 Intermountain Healthcare. All rights reserved. The content presented here is for your information only. It is not a substitute for professional medical advice, and it should not be used to diagnose or treat a health problem or disease. Please consult your healthcare provider if you have any questions or concerns.