Congenital Heart Defects in Children - Diagnosis and Treatment

Diagnosis

Ways Heart Defects Are Found

When diagnosing heart issues present from birth, medical professionals use a combination of symptom checks, physical exams, and specialized tests.

The way a heart defect is found can depend on the patient’s age, symptoms, and the exact type of problem.

Some defects appear before a baby is born, while others may not become apparent until childhood or even the teenage years.

A doctor may suspect an issue if a baby is not gaining weight well, has a bluish tint to the lips or skin, or makes unusual sounds when breathing.

Sometimes, the only sign is a sound called a heart murmur, which may or may not indicate a defect.

Medical Tests Used to Detect Heart Conditions

Doctors use several main tests to identify and confirm congenital heart defects. Each test provides different information to help understand what is happening inside the heart.

The table below describes these tests and their purposes:

Test Name	What It Checks	How It’s Done
Pulse Oximetry	Measures how much oxygen is in the blood.	A small sensor is placed on a finger or toe.
Electrocardiogram (ECG or EKG)	Shows the heart’s electrical activity and rhythm.	Sticky sensors (electrodes) are put on the chest, arms, and legs. Connected by wires to a machine.
Echocardiogram	Uses sound waves to make images of the heart. Shows movement and blood flow.	A probe is moved over the chest to get pictures. Can be done even before birth (fetal echo).
Chest X-ray	Gives a picture of the heart and lungs.	A brief image is taken, similar to other X-rays. Shows size and shape.
Cardiac Catheterization	Provides detailed data about blood flow and heart pressures.	A thin tube is threaded into the heart through a blood vessel, usually in the leg.
Heart MRI (Cardiac MRI)	Creates detailed pictures of the heart, using magnets and radio waves.	The patient lies in a scanner while images are taken. Shows the structure and function of the heart.

Pulse Oximetry and Blood Oxygen Checking

A pulse oximeter quickly and painlessly checks the amount of oxygen in a child’s blood. Medical staff often use it on newborns to look for low levels of oxygen, which can indicate serious heart or lung problems.

The sensor clips onto the finger or toe, and the result appears within seconds. Low blood oxygen may mean that blood is not flowing properly through the heart and lungs.

Checking the Heart’s Rhythm with an Electrocardiogram

An electrocardiogram, or ECG, shows how the heart is beating. It detects signs of arrhythmia (an abnormal heart rhythm), extra heartbeats, or problems with how the electrical signals travel in the heart.

This test helps doctors find out if there are changes in the heart’s function that could be connected to different types of congenital heart disease.

Echocardiography

An echocardiogram often serves as the main test to examine a child’s heart if a defect is suspected. It uses harmless sound waves (ultrasound) to make moving pictures.

This reveals any holes in the heart, such as a ventricular septal defect (VSD) or atrial septal defect (ASD), or narrowings like aortic or pulmonary stenosis. It also shows if blood is moving the right way through the heart.

A special kind for babies still in the womb, called a fetal echocardiogram, helps doctors plan for any needed care after birth if a defect is detected before delivery.

Using Chest X-Rays to See the Heart and Lungs

A chest X-ray shows the size and shape of the heart and indicates if the heart is larger than normal. It also lets doctors see if there is fluid in the lungs, which can happen if the heart is not pumping normally.

This test can suggest if heart failure is present and if blood flow in the lungs is too high or too low because of a heart defect.

Cardiac Catheterization

When non-invasive tests do not provide enough detail, cardiac catheterization offers a more in-depth look inside the heart.

In this test, a doctor inserts a thin, flexible tube (catheter) into a vein or artery and moves it up to the heart.

Special dye is injected so doctors can see the heart and vessels on X-ray. This test measures pressures, checks for blockages, and evaluates blood flow.

Some repairs, like closing a hole in the heart, can be performed through the catheter without open surgery.

Heart MRI

Heart MRI uses magnets and radio waves to create clear, detailed 3D pictures of the heart. This scan is very useful for older children and adults, or when echocardiogram pictures are not clear enough.

It can show the heart’s structure, measure the size of the chambers, and help spot complex defects. MRI also helps doctors check on repairs or replacements of heart valves or vessels.

Examples of Heart Defects Found with These Tests

These tests can reveal many types of congenital heart problems, including:

Ventricular Septal Defect (VSD): A hole in the wall between the lower heart chambers.
Atrial Septal Defect (ASD): A hole between the upper heart chambers.
Patent Ductus Arteriosus (PDA): A blood vessel that should close after birth stays open.
Coarctation of the Aorta: Narrowing of the main artery leaving the heart.
Bicuspid Aortic Valve: A valve with only two flaps instead of three.
Pulmonary Stenosis: Narrowing of the heart valve that leads to the lungs.
Atrioventricular Canal Defect: A complex defect affecting the walls separating the chambers and the valves.
Aortic Stenosis: Narrowing of the valve that controls blood flow from the heart to the body.
Critical Congenital Heart Disease: Severe defects that are often found soon after birth because they cause low blood oxygen.When and Why These Tests Are Used

The choice of tests depends on the child’s age and symptoms. For example:

If an unborn baby’s routine scan shows an unusual heart shape, doctors may order a fetal echocardiogram.
In a newborn, if oxygen levels are low, a pulse oximeter is used. If there is further concern, an echocardiogram is often done next.
If a child’s doctor hears a strong heart murmur or sees signs like rapid breathing, chest pain, or fainting, an ECG and chest X-ray may be performed as well.
Older children and teens with chest pain, fainting, or palpitations during activity are checked closely with ECG, echocardiogram, and maybe MRI to look for hidden issues.

Tests may need to be repeated as a child grows, because the heart changes over time. Some mild defects found early may not need treatment but should be checked every few years with echocardiography to watch for changes.

Summary Table: Key Tests for Congenital Heart Defects

Test	Detects or Monitors	Typical Use
Pulse oximetry	Oxygenation issues, cyanosis	Newborn screening and follow-up
Electrocardiogram (ECG)	Rhythm or conduction abnormalities	Infants, children, teens with symptoms
Echocardiogram	Structural issues, blood flow problems	All ages, most common test
Fetal echocardiogram	Problems seen before birth	High-risk pregnancies
Chest X-ray	Heart size, lung congestion	Any child with new symptoms
Cardiac catheterization	Precise pressures, flow, anatomy	Complex or unclear cases
Heart MRI	Detailed 3D anatomy and function	Older kids, adults, or complex situations

Doctors aim to diagnose conditions as early and accurately as possible, giving each child the best chance for timely and effective care.

Treatment

Use of Medicines

Many children with congenital heart problems take medicines as part of their care. Doctors choose these medicines based on the type and severity of the heart defect.

Some common types include:

Type of Medicine	Main Purpose	Common Uses
Blood pressure medicines	Lower blood pressure; ease heart’s work	Angiotensin-Converting Enzyme (ACE) Inhibitors, Angiotensin II Receptor Blockers (ARBs), beta blockers
Diuretics (water pills)	Remove extra fluid from the body	Reduce swelling, ease strain on the heart
Rhythm control medicines	Keep the heart beating regularly	Treat irregular heartbeats (arrhythmias)

Blood pressure medicines help prevent the heart from working too hard. ACE inhibitors, angiotensin II receptor blockers (ARBs), and beta blockers are often used in these cases.

Diuretics remove extra salt and water from the body, making it easier for the heart to pump blood. Anti-arrhythmics control irregular heart rates that may result from heart defects.

In some cases, antibiotics are prescribed to prevent infections if a child is at risk for certain heart infections, like endocarditis.

For conditions like hypoplastic left heart syndrome, pulmonary atresia, or tricuspid atresia, medicines help balance blood flow and reduce the chance of heart failure.

Children with milder types of congenital heart disease may only need medicines and regular checkups instead of surgery. Doctors aim to use the fewest medicines possible while controlling symptoms and helping the child stay active.

Operations and Other Heart Treatments

Some heart defects are serious enough to require procedures or operations, sometimes soon after birth. The specific heart condition determines the type of operation.

Procedures Without Open Surgery

Many repairs now use less invasive tools and methods. Cardiac catheterization is a common example.

A doctor guides a thin, flexible tube (catheter) through a blood vessel to the heart.
Doctors fix some defects, such as sealing small holes (as in atrial or ventricular septal defects), opening narrow heart valves (balloon valvuloplasty), or widening blocked blood vessels (balloon angioplasty).

This approach often means no large cuts and shorter recovery times. Children with complex issues like total anomalous pulmonary venous return may require more than one procedure as they grow.

Surgical Repairs

Surgeons repair some heart defects, such as tetralogy of Fallot, transposition of the great arteries, truncus arteriosus, or severe forms of patent ductus arteriosus, with open-heart surgery.

Steps include:

Surgeons place patches over holes between heart chambers.
Surgeons replace or fix heart valves.
Surgeons connect vital blood vessels to the correct heart chambers.
Surgeons create new pathways for blood to improve oxygen flow.

Doctors choose techniques based on the specific condition and its severity. In some cases, such as hypoplastic left heart syndrome or certain forms of pulmonary atresia, children undergo several surgeries over several years.

Sometimes, doctors combine surgeries and catheter-based procedures for the best outcome.

Minimally Invasive and Robotic Approaches

Advancements now allow some surgeons to complete repairs with minimally invasive surgeries or with robotic assistance, which may mean smaller incisions and quicker healing.

The patient’s size, age, and the technology available at the hospital determine if these methods are possible.

Heart Transplant

If a defect is so severe that regular operations can’t fix it, doctors may recommend a heart transplant. This happens more often when the heart muscle or valves are very weak or damaged.

Before-Birth Treatment

In rare situations, doctors treat some serious heart problems before birth in a procedure called fetal cardiac intervention. They use this method only in special cases, such as certain severe valve blockages while the baby is still in the womb.

Lifelong Monitoring and Checkups

Most children who have surgery for congenital heart disease need lifelong follow-up by a heart specialist. Doctors perform regular checkups to look out for new symptoms or other issues that might appear as children get older.

Summary Table of Common Defects and Related Procedures

Heart Defect	Sample Treatments/Procedures
Tetralogy of Fallot	Surgical repair, catheter procedures
Transposition of the great arteries	Open-heart surgery, heart transplant
Truncus arteriosus	Surgical repair, prosthetic grafts
Patent ductus arteriosus	Catheter closure, surgery
Hypoplastic left heart syndrome	Multiple surgeries, possible transplant
Pulmonary atresia	Balloon valvuloplasty, staged operations
Total anomalous pulmonary venous return	Surgical repair
Tricuspid atresia	Multiple surgical steps

Regular health visits, blood tests, and imaging studies help track how well the heart works after treatment.

Many children treated for congenital heart issues can be active and take part in school and sports, depending on their doctor’s advice.

Specialized support and teaching help children and families manage ongoing care needs more easily.

Daily Routines and Helpful Practices

Children with congenital heart defects may need changes in their daily habits to support heart function and avoid problems. Healthcare providers track health and adjust care as needed through regular check-ups.

Doctors may limit physical activity for some children, so families should talk with a doctor before starting or joining sports. Some activities might be safe, while others need to be avoided, depending on the child’s unique condition.

Good nutrition supports overall health. Families should provide a balanced diet of fruits, vegetables, lean meats, and whole grains.

Doctors recommend routine vaccines, such as the influenza vaccine, to help prevent infections, which is important for children with heart issues. Some children may need antibiotics before dental work to help prevent infections in the heart.

Sample Actions Table:

Action	Purpose
Regular physical activity	Supports heart and body health
Nutritious meals	Aids growth and energy
Influenza vaccinations	Lowers risk of serious infection
Preventive antibiotics (if recommended)	Helps avoid heart infections

Coping and support

Support from others can help families and individuals feel less alone. Joining a local group or connecting with organizations like the Adult Congenital Heart Association often provides guidance and friendship.

Ways to manage difficult feelings include:

Talking with a counselor for stress or anxiety.
Reaching out to peers facing similar health challenges.
Asking your care team about resources nearby.

Building a strong support network makes it easier to handle daily challenges and find new ways to cope.

Getting Ready for Your Visit

Steps You Can Take Before the Appointment

Preparing ahead can help make the appointment go more smoothly. Create a checklist to keep track of important information and tasks before seeing the pediatric cardiologist.

Contact the medical office and ask if your child should avoid food, drinks, or certain medications before the visit.
Write down all symptoms your child has. Include symptoms that seem minor or unrelated, and note when each symptom started.
Gather details about your family’s medical background. Family history is important because some heart defects are inherited.
List any past or current illnesses or infections affecting your child’s birth mother. Also, write down if alcohol or any drugs were used during pregnancy.
Bring a list of all medications your child takes, including vitamins and any over-the-counter supplements. Add the doses to this list.
Prepare questions to ask the healthcare team. This can help you remember key concerns during the visit.

A table could be helpful for organizing this information:

What To Prepare	Details to Include
Symptoms	Description, when they began, if they have changed
Family History	Relatives with heart problems or congenital heart disease
Mother’s Health During Pregnancy	Illnesses, infections, alcohol or drug use
Medications	All medicines taken by mother during pregnancy and by the child now
Questions for the Team	Write them down ahead of time

Sample questions to ask the pediatric cardiologist:

Which heart tests will my child need?
Is there anything special to do before these tests?
What is the type or name of my child’s heart condition?
When and how will treatment begin?
What are possible long-term effects?

Tip: Bringing a notebook or folder with this information can help you stay organized.

What The Healthcare Team Will Want To Know

The pediatric cardiologist and other team members will likely ask questions about your child’s health and symptoms. They may ask:

When you first noticed your child’s symptoms.
How the symptoms appear and if they have changed over time.
If certain things make symptoms better or worse.
Whether the symptoms are always present or come and go.
If your child is meeting expected growth and developmental milestones.
If other family members have had congenital heart disease.

Below is a sample list of the questions you might need to answer:

When did you first see symptoms in your child?
Can you describe the symptoms clearly?
Do symptoms show up at certain times or under certain conditions?
Are these symptoms constant or do they appear sometimes?
Do the symptoms get worse, or stay the same?
Is there anything that helps reduce the symptoms?
Does anyone else in your family have similar heart issues?
How is your child growing or developing compared to other kids their age?

Congenital Heart Defects in Children – Diagnosis and Treatment