Congenital heart disease

What is congenital heart disease?

About 1 out of every 100 babies is born with a condition called congenital heart disease. The term refers to a range of heart problems that are present at birth and affect how the heart works.

What these various issues have in common is that they arise while the baby is still in utero, when the heart is developing. Congenital heart disease includes structural defects in the heart itself or in the blood vessels that carry blood to and from the heart. The condition also includes problems that affect the heart’s rhythm or how well the heart muscle pumps blood.

Congenital heart disease is the most common type of birth defect. The severity ranges widely from mild conditions that only need monitoring to life-threatening problems that require multiple surgeries or even a heart transplant.

Today, we can detect many heart problems before birth using a type of ultrasound called fetal echocardiography. This imaging test lets doctors see how the baby's heart is forming and working. Early diagnosis helps doctors plan the best care for the baby immediately after birth. In some cases, treatment – ranging from medications to procedures – can even begin before the baby is born.

Thanks to advances in early diagnosis and treatment, most children with congenital heart disease have excellent outcomes and grow into healthy adults.

Our approach

A leader in the evaluation and treatment of congenital heart disease, UCSF Benioff Children's Hospitals have specialized programs to provide cutting-edge care before birth, after delivery and at every stage of a child's development. These specialized services include our Fetal Cardiovascular Program, Fetal Treatment Center, Neonatal Cardiovascular Center of Excellence and Pediatric Heart Center.

Our Fetal Cardiovascular Program, a collaboration of the Pediatric Heart Center and Fetal Treatment Center, uses state-of-the-art imaging to detect a wide range of heart disorders during pregnancy.

Early diagnosis allows our team to create a personalized care plan and prepare for providing any necessary treatments at birth.

Our team includes experts in fetal and pediatric cardiology, cardiothoracic surgery, cardiac imaging, intensive care, electrophysiology (the study of heart rhythm disorders), cardiovascular genetics and other specialized fields. Many are national leaders in their specialties.

At UCSF, you and your child have access to the most advanced imaging technologies and treatments, as well as comprehensive support services. Our doctors helped develop groundbreaking therapies for congenital heart disease and continue to lead research through clinical trials (studies of promising treatments) aimed at improving outcomes for children and their families.

Causes of congenital heart disease

While researchers don't know the exact cause of most types of congenital heart disease, they think that genetics as well as certain medications, health conditions and environmental factors may play roles. Factors that can increase the risk of having a baby with a heart defect include:

• Rubella (German measles) or other infection during the pregnancy
• Pregestational diabetes or a new diagnosis of diabetes in pregnancy
• Taking certain medications while pregnant, such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acid for acne
• Genetic conditions, including Down or Marfan syndrome
• A family history of congenital heart defects or a previously affected pregnancy
• Use of In Vitro Fertilization
• Abnormal first trimester screening (nuchal translucency noninvasive prenatal testing)
• Any other abnormality seen on ultrasound during the pregnancy that is of concern or may have a genetic cause

Symptoms of congenital heart disease

Symptoms depend on the specific heart defect and its severity. Most cases are diagnosed before birth.

However, common signs in infants include:

• A bluish tint to the skin (due to insufficient oxygen in the blood)
• Unusual sleepiness and lack of energy
• Rapid or labored breathing
• Heart murmur (a whooshing or swishing sound that can be heard through a stethoscope)

Types of congenital heart disease

The conditions known as congenital heart disease generally fit into one of three broad categories: structural defects, arrhythmias and problems that compromise heart function.

Structural defects

During pregnancy, even small abnormalities in how the heart forms can lead to architectural problems, such as a hole between the heart’s chambers, a narrowed heart valve or an undersized blood vessel. These issues can affect how blood flows through the heart and body.

For example, if the aortic valve (which controls blood flow from the left lower chamber to the body) is too narrow, development of the entire left side of the heart can be impaired. This can become a life-threatening condition if not treated before birth. If either of the heart’s main pumping chambers doesn’t develop properly, the baby may experience severe complications after birth requiring multiple open-heart surgeries.

Arrhythmias

When a baby's heart beats too fast, too slowly, or irregularly, it's called an arrhythmia. A healthy fetal heart rate ranges from 120 to 160 beats per minute and has a certain rhythm. A change in rhythm or a rate outside this range may signal a heart rhythm problem.

Arrhythmias result from an issue with the heart's electrical system, which controls the heartbeat. This is sometimes linked to a structural heart defect.

Common arrhythmias include:

• Supraventricular tachycardia (SVT). The heart beats much too fast.
• Bradycardia. The heart beats too slowly.
• Heart block. Electrical signals from the upper part of the heart to the lower part are delayed or blocked.

Many arrhythmias can be diagnosed and treated before birth. While irregular rhythms often don't cause serious problems before birth, a too fast or too slow heartbeat can become dangerous and require immediate care.

Compromised heart function

A healthy heart pumps blood throughout the body, helping organs and tissues get the oxygen and nutrients they need. But sometimes before birth or during infancy, the heart muscle is too weak to do the job – a condition called cardiomyopathy. Cardiomyopathy can be caused by an infection, a genetic disorder, or certain diseases that affect the heart muscle.

In other cases, the heart can't pump properly because of the stress caused by another condition. Arrhythmias can make the heart work harder, as can structural defects in other parts of the body, such as congenital cystic adenomatoid malformations (cysts in the lungs that can compress the heart) or arteriovenous malformations (abnormal tangles of blood vessels in the brain).

A heart that's working too hard can lead to serious health issues. Fortunately, we can find many of these problems early through prenatal testing or newborn screening and we can often provide treatments to support the health of the baby’s heart.

Diagnosis of congenital heart disease

Most heart defects can now be diagnosed in utero, (before birth, as early as 13-14 weeks of pregnancy). Because our Birth Center, newborn nursery and Intensive Care Nursery are all housed in the same complex, most parents will be able to be with their baby throughout the birth and newborn periods.

Before your baby is born, your doctor may perform a fetal echocardiogram to check for heart defects. This test uses sound waves (ultrasound) to create detailed images of the heart. Usually done between 18 and 22 weeks of pregnancy, a fetal echocardiogram can detect structural defects and arrhythmias and allow your provider to determine whether the problem should be treated before birth or can wait. 

After your baby is born, they will have certain screening tests. All newborns are checked with a pulse oximeter, a sensor placed on a hand or foot to measure the amount of oxygen in the blood. If the blood oxygen level is low or the baby shows other signs of congenital heart disease, the doctor may order more tests, including:

• Chest X-ray. These images of the heart and associated vessels can reveal problems with the size, shape or position of the heart or arteries.
• Echocardiogram or transthoracic echocardiogram. In this painless test, high-frequency sound waves (ultrasound) are used to produced detailed images of the heart while it's beating. This allows doctors to examine the valves and other structures, and assess how well blood is moving through the heart.
• Electrocardiogram (ECG). This noninvasive test records the electrical activity of the heart.
• Cardiac catheterization. A catheter (thin, flexible tube) equipped with tiny tools is threaded through blood vessels to the heart, where the instruments can be used to measure blood pressure and flow, detect narrowed areas or blockages, or take images of structures and vessels inside the heart.

Treatment of congenital heart disease

Treatment depends on the type of congenital heart defect and how serious it is. Possible interventions include:

• Cardiac catheterization. This previously mentioned diagnostic technique is also used to repair defects. Guided by imaging, the doctor threads a catheter through blood vessels to the heart. Delicate tools are then passed through the tube and manipulated to fix the problem. This technique is used in a variety of procedures performed before or after birth, such as opening a narrowed valve or closing a hole in the heart wall. We frequently use cardiac catheterization to repair problems that formerly required open-heart surgery.
• Surgery. Complex defects may require either minimally invasive or open-heart surgery. Surgery may be used to repair defects in the heart and blood vessels, fix or replace a faulty valve, or implant a device in the chest to help the heart pump. For severe defects, a heart transplant may be required.
• Medication. A fetal arrhythmia is usually treated with anti-arrhythmia drugs, which are given to the mother and reach the baby through the placenta. In newborns diagnosed with patent ductus arteriosus, nonsteroidal anti-inflammatory drugs (NSAIDs) are sometimes used to close the blood vessel that failed to seal after birth.
  
  Even after treatment, all children and adults with congenital heart disease need lifelong follow-up care from a cardiologist (a doctor who specializes in heart conditions).