Also known as Holes in the Heart, Atrial Septal Defect, Ventricular Septal Defect, Tetralogy of Fallot, Patent Ductus Arteriosus (PDA), Congenital Heart Disease. Congenital heart defects, or diseases, are problems with the heart’s structure that are present at birth. They may change the normal flow of blood through the heart. Congenital heart defects are the most common type of birth defect.
There are many types of congenital heart defects. The most common defects involve the inside walls of the heart, the valves of the heart, or the large blood vessels that carry blood to and from the heart. Some defects require no treatment, but some require treatment soon after birth. Because diagnosis and treatment of congenital heart defects has improved, more babies are surviving and now many adults are living with congenital heart defects.
Types of Congenital Heart Defects
There are many types of congenital heart defects. They range from simple to complex and critical. Simple defects, such as atrial septal defect and ventricular septal defects, may have no symptoms and may not require surgery. Complex or critical defects such as hypoplastic left heart syndrome may have severe, life-threatening symptoms. Babies born with a critical congenital heart defect typically have low levels of oxygen soon after birth and need surgery within the first year of life.
Atrial septal defect
An atrial septal defect is a hole in the wall between the atria, which are the two upper chambers of the heart. The hole causes blood to flow from the left atrium and mix with the right atrium, instead of going to the rest of the body. Atrial septal defect is considered a simple congenital heart defect because the hole may close on its own as the heart grows during childhood, and repair may not be necessary.
Patent ductus arteriosus
This common type of simple congenital heart defect occurs when a connection between the heart’s two major arteries does not close properly after birth. This leaves an opening through which blood can flow when it should not. Small openings may close on their own.
Pulmonary stenosis
Pulmonary stenosis is a narrowing of the valve through which blood leaves the heart on its way to the lungs.
Ventricular septal defect
A ventricular septal defect is a hole in the wall between the ventricles, which are the two lower chambers of the heart. Blood may flow from the left ventricle and mix with blood in the right ventricle, instead of going to the rest of the body. If the hole is large, this may make the heart and lungs work harder and may cause fluid to build up in the lungs.
Tetralogy of Fallot
This is the most common complex congenital heart defect. Tetralogy of Fallot is a combination of four defects:
- Pulmonary stenosis.
- A large ventricular septal defect.
- An overriding aorta. With this defect, the aorta is located between the left and right ventricles, directly over the ventricular septal defect. As a result, oxygen-poor blood from the right ventricle can flow directly into the aorta instead of into the pulmonary artery.
- Right ventricular hypertrophy. In this case, the muscle of the right ventricle is thicker than usual because it has to work harder than normal.
Other critical congenital heart defects
Common congenital heart defects include:
- Coarctation of the aorta
- Double-outlet right ventricle
- D-transposition of the great arteries
- Ebstein’s anomaly
- Hypoplastic left heart syndrome
- Interrupted aortic arch
- Pulmonary atresia with intact ventricular septum
- Single ventricle
- Total anomalous pulmonary venous return
- Tricuspid atresia
- Truncus arteriosus
Causes of Congenital Heart Defects
Congenital heart defects happen because the heart does not develop normally while the baby is growing in the womb. Doctors often do not know why congenital heart defects occur. Researchers do know that genetics can sometimes play a role.
Genetics
It is common for congenital heart defects to occur because of changes in the child’s DNA. The changes in the DNA may or may not have come from the parents.
Rarely, congenital heart defects are caused by particular genes that are inherited from the parents. That means a parent who has a congenital heart defect may have an increased risk of having a child with the defect.
Risk Factors for Congenital Heart Defects
Congenital heart defects are the most common type of birth defect, occurring in about one percent of live births in the United States. If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem.
However, doctors often do not know why congenital heart defects occur. Researchers do know that the risk of having a baby with a congenital heart defect is influenced by family history and genetics, the mother’s health, sex, and exposure during pregnancy to environmental factors, such as smoke or certain medicines. Other medical conditions can also raise your risk for having a baby with a congenital heart defect.
Family history and genetics
Congenital heart disease is not usually passed along to your children, but there is some risk. The risk is increased if your baby’s other parent or another of your children has a congenital heart defect.
Environmental factors
Exposure to certain substances during pregnancy may increase your risk of having a baby with a congenital heart defect.
- Smoking during pregnancy or exposure to secondhand smoke.
- Taking some medicines—such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acids for acne treatment—in the first trimester.
Other medical conditions
Some medical conditions increase the risk of having a baby with a congenital heart defect, such as:
- Diabetes. Your risk is higher if you have diabetes before pregnancy, or if you are diagnosed with diabetes while you are in your first trimester. However, a diagnosis of gestational diabetes, which occurs later in the pregnancy, is not a major risk factor.
- Phenylketonuria. This rare, inherited disorder affects how your body processes a protein called phenylalanine, which is found in many foods. Getting phenylketonuria under control before getting pregnant can reduce your risk of having a baby with a congenital heart defect.
- Rubella. Infection with the rubella virus, also known as German measles, during pregnancy increases your risk.
Sex
Congenital heart defects can occur in either sex. Congenital heart defects are slightly more common at birth in boys than girls. Some congenital heart defects are a characteristic of conditions such as Turner syndrome that more commonly affect females.
Signs, Symptoms, and Complications
Some congenital heart defects cause few or no signs and symptoms. Since more children with congenital heart defects are living longer, we now know that complications can develop later in life. Signs, symptoms, and complications will vary based on the type of congenital heart defect that you or your child have.
Signs and symptoms
Signs and symptoms may be different for newborns and adults. They also depend on the number, type, and severity of the heart defect. Some common signs and symptoms include:
- Cyanosis
- Fatigue
- Heart murmurs
- Poor blood circulation
- Rapid breathing
Congenital heart defects do not cause chest pain or other painful symptoms. Older children or adults may get tired easily or short of breath during physical activity.
Complications
Complications depend on the type of congenital heart defect you have. Some of the possible complications include:
- Arrhythmia
- Blood clots
- Developmental disorders and delays. Children with congenital heart defects are more likely to have problems with behavior. They are also more likely to have speech and attention-deficit/hyperactivity disorders.
- Emotional health issues. Depression, anxiety, and post-traumatic stress disorder are common among people with congenital heart defects.
- Endocarditis, a type of heart inflammation
- Endocrine disorders, including thyroid problems, bone health issues, and diabetes. Problems with the hormones that deal with calcium can cause bone problems.
- Heart failure. Heart failure is the leading cause of death in adults with congenital heart defects. Some children with congenital heart defects develop heart failure.
- Kidney disease
- Liver disease
- Pneumonia. Pneumonia is a leading cause of death in adults with congenital heart disease.
- Pregnancy complications. Women with congenital heart defects have an increased risk of complications during pregnancy and childbirth.
- Pulmonary hypertension
- Stroke
Diagnosing Congenital Heart Defects
Some congenital heart defects are diagnosed during pregnancy or soon after birth. Others may not be diagnosed until adulthood. Your or your child’s doctor will perform a physical exam and order diagnostic tests and procedures based on what he or she finds in the physical exam.
Physical exam
During a physical exam, your doctor will do the following:
- Listen to your or your child’s heart and lungs with a stethoscope.
- Look at your baby’s general appearance. Some children with certain heart defects also have genetic syndromes that make them look a certain way.
- Look for signs of a heart defect, such as shortness of breath, rapid breathing, delayed growth, signs of heart failure, or cyanosis.
Diagnostic tests and procedures
To diagnose a congenital heart defect, your doctor may have you or your baby undergo some of the following tests and procedures:
- Echocardiography to diagnose a heart defect or follow your or your child’s progress over time. Fetal echocardiography can sometimes diagnose a congenital heart defect before a baby is born.
- Electrocardiogram (EKG or ECG)to evaluate the rhythm of the heartbeat.
- Cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is flowing from the left side of the heart into the right side of the heart, instead of going to the rest of the body.
- Chest X-ray to show whether the heart is enlarged. It can also show whether the lungs have extra blood flow or extra fluid, a sign of heart failure.
- Genetic testing to determine if particular genes or genetic syndromes such as Down syndrome are causing the congenital heart defect. Your doctor may refer you or your child to a specialist in genetic testing.
- Cardiac MRI to diagnose a heart defect or follow your or your child’s progress over time.
- Pulse oximetry to estimate how much oxygen is in the blood. A small sensor is attached to an infant’s hand or foot or an older person’s finger or toe.
Treating Congenital Heart Defects
Treatment will depend on which type of congenital heart defect you have. Treatments for congenital heart defects include medicines, surgery, and cardiac catheterization procedures. Many congenital heart defects do not require treatment at all. However, children with critical congenital heart defects will need surgery in the first year of life. Some people with congenital heart defects may need treatment, including repeated surgery, throughout their lives. All people with congenital heart defects should be followed by a cardiologist, a doctor who specializes in the heart, throughout their whole life.
Medicines
Your child’s doctor may prescribe medicines to help close patent ductus arteriosus in premature infants.
- Indomethacin or ibuprofen triggers the patent ductus arteriosus to constrict or tighten, which closes the opening.
- Acetaminophen is sometimes used to close patent ductus arteriosus.
Procedures
Cardiac catheterization is a common procedure that is sometimes used to repair simple heart defects, such as atrial septal defect and patent ductus arteriosus, if they do not repair themselves. It may also be used to open up valves or blood vessels that are narrowed or have stenosis.
In this procedure, a thin, flexible tube called a catheter is put into a vein in the groin or neck. The tube is threaded to the heart. Possible complications include bleeding, infection, and pain at the catheter insertion site and damage to blood vessels.
Surgery
In heart surgery, a cardiac surgeon opens the chest to work directly on the heart.
Surgery may be done for these reasons:
- To repair a hole in the heart, such as a ventricular septal defect or an atrial septal defect.
- To repair a patent ductus arteriosus.
- To repair complex defects, such as problems with the location of blood vessels near the heart or how they are formed.
- To repair or replace a valve.
- To widen narrowed blood vessels.
Surgeries that are sometimes needed to treat congenital heart defects include:
- Heart transplant. Children may receive a heart transplant if they have a complex congenital heart defect that cannot be repaired surgically or if the heart fails after surgery. Children may also receive a heart transplant if they are dependent on a ventilator or have severe symptoms of heart failure. Some adults with congenital heart defects may eventually need a heart transplant.
- Palliative surgery. Some babies with only one ventricle are too weak or too small to have heart surgery. They must have palliative surgery, or temporary surgery, first to improve oxygen levels in the blood. In this surgery, the surgeon installs a shunt, a tube that creates an additional pathway for blood to travel to the lungs to get oxygen. The surgeon removes the shunt when the baby’s heart defects are fixed during the full repair.
- Ventricular assist device. For people with heart failure from a congenital heart defect, this device supports the heart until a transplant occurs. These devices can be difficult to use in people who have congenital heart defects because of the heart’s abnormal structure.
- Total artificial heart. For some people with complex congenital heart defects, a total artificial heart may be needed instead of a ventricular assist device.
