Congenital heart defects (CHDs) are heart problems that are present at birth. Some are found during pregnancy, while others are diagnosed after birth, in childhood or even later in adulthood.
Early diagnosis helps your care team understand how the heart is formed, how well it is working and what type of treatment or monitoring may be needed. At Banner Health, our heart specialists help diagnose and care for congenital heart defects from early life through adulthood.
Congenital heart defects may be diagnosed before birth, shortly after birth or later in life. The timing depends on the type of defect, how severe it is and whether symptoms are present.
Diagnosis may include:
Your provider will recommend testing based on your pregnancy, your baby’s health, symptoms, family history or other risk factors.
Many congenital heart defects are first suspected during pregnancy. Prenatal testing can help identify possible concerns before birth so families and care teams can plan ahead.
A prenatal ultrasound is often the first screening test that may detect a congenital heart defect. A routine ultrasound, often done around 18 to 22 weeks of pregnancy, checks the baby’s growth and anatomy, including the heart’s size, shape and structure.
If the ultrasound shows a possible heart concern, your provider may recommend more detailed testing.
A fetal echocardiogram, also called a fetal echo, is a specialized ultrasound of the baby’s heart. It uses sound waves to create detailed images of the heart’s chambers, valves and blood flow.
A fetal echocardiogram may be recommended if:
This test can help specialists understand how the baby’s heart is forming and whether care may be needed before or after delivery.
Some congenital heart defects are linked to genetic conditions. Your provider may recommend genetic testing to look for certain chromosome or gene changes that may be associated with CHDs.
Genetic testing may include amniocentesis or chorionic villus sampling (CVS). These tests do not diagnose every heart defect, but they may provide helpful information for care planning.
Noninvasive prenatal testing (NIPT) is a blood test that can screen for certain genetic conditions that may be associated with congenital heart defects.
Blood and genetic tests cannot diagnose a heart defect on their own. However, results may show whether more testing, such as a fetal echocardiogram, is needed.
Some congenital heart defects are not found during pregnancy. They may be diagnosed after a baby is born, during childhood or later in adulthood.
Testing after birth may be recommended if a baby, child or adult has symptoms or if a provider notices signs of a possible heart problem.
After birth, a provider examines the baby and listens to the heart with a stethoscope.
They may look for signs such as:
A heart murmur does not always mean a baby has a heart defect, but it may lead to more testing.
Pulse oximetry is a simple, painless test that measures oxygen levels in the blood. A small sensor is placed on the baby’s hand or foot.
Low oxygen levels may be a sign of a serious congenital heart defect or another medical concern that needs more evaluation.
An echocardiogram, also called an echo, is one of the most common tests used to diagnose congenital heart defects. It uses ultrasound to create moving images of the heart.
An echocardiogram can help specialists:
This noninvasive test may be used for newborns, infants, children, teens and adults.
If early testing suggests a congenital heart defect, your provider may order more tests to confirm the diagnosis, learn how severe it is or plan treatment.
An electrocardiogram, also called an ECG or EKG, measures the heart’s electrical activity. Small sensors are placed on the chest, arms and legs.
An EKG can help identify irregular heart rhythms, signs of heart strain or other electrical changes related to a congenital heart defect.
A chest X-ray creates images of the heart, lungs and chest. It can help show the size and shape of the heart and whether fluid is building up in the lungs.
A cardiac MRI uses magnets and radio waves to create detailed images of the heart. It can provide more information about heart structure, blood flow and heart function, especially for complex congenital heart defects.
A cardiac MRI may help specialists measure heart chamber size, evaluate blood vessels and better understand how the defect affects the heart.
A CT scan uses X-rays to create detailed images of the heart and blood vessels. This test can help specialists better understand complex heart defects and plan treatment.
Cardiac catheterization is a minimally invasive test and treatment procedure. A thin tube called a catheter is inserted into a blood vessel, often in the leg or wrist, and guided to the heart.
Cardiac catheterization can help specialists:
For some complex congenital heart defects, care teams may use 3D heart models created from CT or MRI scans. These models can help specialists better understand the defect, plan treatment and explain the condition to families.
After diagnosis, your provider will explain the type of congenital heart defect, how severe it is and what treatment or monitoring may be needed.
Treatment depends on the type of CHD, symptoms, age and overall health. Options may include:
Some congenital heart defects need treatment soon after birth. Others may only need regular checkups. Many children and adults with congenital heart defects live full and active lives with the right care.
Learn more about congenital heart defect treatment and living with a congenital heart defect.
Congenital heart defects often require long-term monitoring, even after treatment. Heart needs can change as a child grows or as an adult gets older.
Regular follow-up care can help your provider:
Adults who were treated for a congenital heart defect as children may still need care from a heart specialist with experience in adult congenital heart disease.
At Banner Health, heart specialists diagnose and treat a wide range of congenital heart defects, from common conditions to rare and complex cases.
Your care team may include pediatric cardiologists, adult heart specialists, imaging specialists, surgeons and other experts who work together to guide diagnosis, treatment and long-term care.
Care plans are tailored to each patient’s needs, whether the diagnosis happens during pregnancy, after birth, in childhood or later in life.
A congenital heart defect diagnosis can bring many questions, but early testing and expert care can help you understand what comes next.
Schedule an appointment with a Banner Health heart specialist to learn more about congenital heart defect diagnosis, testing and care.
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