What is a congenital heart defect?
A congenital heart defect results when the heart, or blood vessels near the heart, don’t develop normally before birth. Heart defects are the most common type of birth defect, occurring in about one in 100 live births. Each year in Virginia about 800 babies are born with a congenital heart defect. The terms congenital heart disease and congenital heart defect are used interchangeably.
Types of congenital heart defects
Congenital heart defects can be divided into several categories that help experts and you understand what kind of difficulties your baby might experience.
The most common defects are:
- Holes in the heart
- Tight or leaky valves (which direct blood flow to and from the heart)
- Hearts with abnormal connections
- Narrowing in the arteries that carry blood from the heart
If too much blood is passing through the lungs
These defect have extra blood passing through the lungs that may cause symptoms of fast or hard breathing. These defects result in an inefficiency in circulation where extra blood can return to the lung without passing through the body. This results in the total circulation of the baby or child needing to do extra work similar to exercising. Symptoms only occur if any of the defects is large. Doctors describe symptomatic patients with too much blood passing through the lungs as being in ‘congestive heart failure’ (CHF). This term is somewhat of a misnomer as the heart is not failing but in fact is stronger than usual due to this extra work that the heart is doing.
Types of defects associated with too much blood in the lungs
Patent ductus arteriosus (PDA): PDA is a normal blood vessel in the human fetus that allows blood to bypass the lung while the fetus is developing.After birth, the PDA normally will shrink and close on its own. It doesn't close, then the PDA allows extra blood from the body artery to pass into the lung artery. If large, the PDA can result in symptoms of CHF.
Atrial septal defect (ASD):In this condition, there is a hole in the wall that separates the two upper chambers of the heart (Atria/Atriums, these are the collecting chambers). This hole allows blood to travel from the Left atrium to Right Atrium. This results in inefficiency in the circulation where oxygenated blood returns to the lung before passing through the body.
Most babies born with this abnormality have no symptoms or signs. Many ASD’s can close on their own in early childhood.
Ventricular septal defect (VSD):This occurs when there is a hole in the wall between the two lower chambers of the heart (Ventricles, these are the pumping chambers). With this defect, blood flows through the hole from the left ventricle back through the right ventricle and into the lung. This is a similar inefficiency in the circulation where there is extra blood passing through the lung. If large, VSD can result in symptoms of CHF as described.
Atrioventricular canal (AVC or AV canal):This is a significant congenital heart defect where there is a large hole in the atrial and ventricular septum(s). This allows a large amount of extra blood to pass through the lungs and almost always results in symptoms of CHF. This type of defect should be repaired in the first year of life.
If not enough blood is passing through the lungs
In these heart defects, the amount of blood that is passing through the lungs is less than normal or there is abnormal mixing of blood inside the heart. This can cause the baby to have a blue coloring which doctors call cyanosis. These defects are generally severe and require correction early in life. The most common of these defects are described briefly below.
Tricuspid atresia: The tricuspid valve is the one that connects the Right atrium to the Right ventricle. This defect occurs when the tricuspid valve does not form, which doesn’t allow blood to flow correctly from the right atrium to the right ventricle. This causes blood to mix abnormally in the heart.
Pulmonary atresia: The pulmonary valve is the valve found between the right ventricle and the pulmonary (lung) artery. Atresia means the valve does not exist is very, very small. With this defect, blood can’t flow properly into the lungs resulting in cyanosis/blueness.
Transposition of the great arteries: With this congenital heart defect, the positions of the pulmonary artery and the aorta are reversed.
The aorta originates from the right ventricle, so most of the oxygen-poor blood returning to the heart from the body is pumped back out without first going to the lungs.
The pulmonary artery originates from the left ventricle so that most of the oxygen-rich blood returning from the lungs goes back to the lungs again.
These patients are very cyanotic and require surgery in infancy.
Tetralogy of Fallot: This condition is characterized by the following four differences in how the heart is formed:
- A specific type of VSD that forces blood to pass from the right side of the heart to the left side of the heart without going through the lungs
- A narrowing at the pulmonary valve that partially blocks the flow of blood from the right side of the heart to the lungs
- Thickening or enlargement of the right ventricle
- A different position of the aorta that lies directly over the ventricular septal defect
This can cause bluish color of the skin(cyanosis) due to an inadequate amount of blood passing through the lung and usually requires surgery in the first year of life
Double outlet right ventricle (DORV): In DORV, the pulmonary artery and the aorta — the heart’s two major arteries — both connect to the right ventricle. In a normal heart, the pulmonary artery connects to the right ventricle, and the aorta connects to the left ventricle. DORV exists in a variety of forms that usually results in symptoms of blueness or CHF and usually requires surgery in the first year of life.
Truncus arteriosus:During normal fetal development, the aorta and pulmonary artery start as a single blood vessel, and then the vessel divides into two separate arteries. Truncus arteriosus occurs when the single great vessel fails to separate completely. This leaves a large connection between the aorta and the pulmonary artery. This generally results in symptoms of cyanosis which is mild and CHF which is severe and requires surgery early in life.
If not enough blood is traveling to the body
These heart anomalies are a result of underdeveloped chambers of the heart or blockages in blood vessels that prevent the proper amount of blood from traveling to the body to meet its needs. These defects when severe require surgery in infancy.
Types of heart abnormalities associated with not enough blood traveling to the body
Coarctation of the aorta (CoA): The aorta is the large blood vessel that carries blood throughout the body. In this condition, the aorta in the chest is narrowed, which slows blood flow to the lower part of the body. When severe, this is found in the first few days of life. When mild, it is found later in life frequently by noticing higher blood pressure in the arms. This does require surgery when found.
Aortic Valve stenosis (AS): The aortic valve is the one that connects the left ventricle to the body artery (aorta). Stenosis is the term doctors use when a valve or artery is smaller than it should be. Aortic valve stenosis is the most common valve problem. This has a range of presenting symptoms from none to severe heart failure presenting at birth. Most patients with AS do not require surgery until later in life, if at all.
Hypoplastic left heart syndrome (HLHS): In HLHS, most of the left side of the heart (including the left ventricle, mitral valve, aorta and aortic valve) are either too small and underdeveloped or completely closed. This is a severe defect and all babies with this defect will die without surgery in infancy. This is the most common cause of death due to CHD.
Nearly 400 of those 800 patients in Virginia will need open heart surgery within the first year of life. With our pediatric heart center, patients and families can receive their heart care right in the heart of Central Virginia.
What causes congenital heart defects?
All congenital heart defects are Genetic in origin but usually are spontaneous changes in the genes and not inherited. Most congenital heart defects can be detected early in fetal development (16-18 weeks gestation). In general, there is nothing a mother or father did or can do to ‘cause’ a congenital heart defect. There are factors that can help us determine if the mother and the fetus are at risk for a congenital heart defect during pregnancy so we can do an ultrasound test and diagnose a defect as early as possible.
Your child might be at an increased risk of developing a heart defect if:
- There are changes in their individual genes or chromosomes
- The mom is taking certain medications during pregnancy
- The mom has a viral infection in the first trimester of pregnancy
- The mom has underlying health conditions
Signs and symptoms of cardiac problems in babies and infants
Often, congenital heart defects will not cause symptoms until they are severe. Cardiac problems in babies may show symptoms such as:
- Heart murmurs (abnormal “swishing” sound during the heartbeat cycle)
- Breathing complaints or rapid breathing
- Poor feeding (child tires out and becomes exhausted or sweaty when eating)
- Blue color of the skin and body (cyanosis)
- Abnormal blood pressure
Other heart defects may remain silent and present suddenly with symptoms with or without exercise. These symptoms can include:
- Passing out during exercise (syncope)
- Chest pain during exercise
- Heart racing or skipping beats while at rest
- Decreasing exercise endurance from prior performance
- Shortness of breath on exertion that previously did not happen at that level of exercise
Diagnosing children’s heart defects
At CHoR, we have access to the latest technology to assist in both diagnosis and treatment, using non-invasive testing and cardiac imaging approaches.
Our multidisciplinary team crosses disciplines to ensure the right doctors, therapists and technicians are helping to diagnose and care for your child.
This includes specialists from:
When a family learns that their unborn baby might have a heart condition, our team works together to care for them through every stage – from diagnosis to delivery, and surgery when necessary.
What treatment options are available?
Congenital heart problems can range from simple to complex. Some heart problems can be watched by your baby's doctor and managed with medicines while others will require surgery. A baby may even grow out of some heart problems.
Our pediatric cardiologists will help diagnose, treat and help your child manage care from infancy to adulthood.
Treatment options might include:
- Cardiac surgery to repair the heart or blood vessels.
- Cardiac catheterization where a long tube is threaded through the blood vessels into the heart, so a doctor can take measurements and pictures, run tests or repair the abnormality.
- Procedures to improve blood flow and the way the heart works so that people can live longer and healthier lives.
Living with congenital heart disease
With advancements in care and access to state-of-the-art heart imaging technology, there are now more adults living with congenital heart disease than children. An estimated 800,000 adults in the United States have grown into adulthood with congenital heart disease. This number increases by about 20,000 each year.
Adult congenital heart disease is not uncommon. Our expert cardiologists and ACHD team help those who have been diagnosed with a heart defect at birth, or after, thrive into adulthood. It’s important to be monitored by experts in congenital heart diseases and take the necessary precautions to help manage your defect.
