What Are Congenital Heart Defects?
Congenital (kon-JEN-i-tal) heart defects are
problems with the hearts structure that are present at birth. These
defects can involve the interior walls of the heart, valves inside the heart,
or the arteries and veins that carry blood to the heart or out to the body.
Congenital heart defects change the normal flow of blood through the heart.
There are many different types of congenital heart
defects. They range from simple defects with no symptoms to complex defects
with severe, life-threatening symptoms.
Congenital heart defects are the most common type of
birth defect, affecting 8 of every 1,000 newborns. Each year, more than 35,000
babies in the United States are born with congenital heart defects. Most of
these defects are simple conditions that are easily fixed or need no
treatment.
A small number of babies are born with complex
congenital heart defects that need special medical attention soon after birth.
Over the past few decades, the diagnosis and treatment of these complex defects
has greatly improved.
As a result, almost all children with complex heart
defects grow to adulthood and can live active, productive lives because their
heart defects have been effectively treated.
Most people with complex heart defects continue to
need special heart care throughout their lives. They may need to pay special
attention to certain issues that their condition could affect, such as health
insurance, employment, pregnancy and contraception, and preventing infection
during routine health procedures. Today in the United States, about 1 million
adults are living with congenital heart defects.
How the Heart Works
To understand congenital heart defects, its
helpful to know how the normal heart works.
Your childs heart is a muscle about the size
of his or her fist. It works like a pump and beats 100,000 times a day.
The heart has two sides, separated by an inner wall
called the septum. The right side of the heart pumps blood to the lungs to pick
up oxygen. Then, oxygen-rich blood returns from the lungs to the left side of
the heart, and the left side pumps it to the body.
The heart has four chambers and four valves and is
connected to various blood vessels. Veins are the blood vessels that carry
blood from the body to the heart. Arteries are the blood vessels that carry
blood away from the heart to the body.
A Healthy Heart Cross-Section
The illustration shows
a cross-section of a healthy heart and its inside structures. The blue arrow
shows the direction in which oxygen-poor blood flows from the body to the
lungs. The red arrow shows the direction in which oxygen-rich blood flows from
the lungs to the rest of the body.
Heart Chambers
The heart has four chambers or "rooms."
- The atria (AY-tree-uh) are the two upper chambers
that collect blood as it comes into the heart.
- The ventricles (VEN-trih-kuls) are the two lower
chambers that pump blood out of the heart to the lungs or other parts of the
body.
Heart Valves
Four valves control the flow of blood from the atria
to the ventricles and from the ventricles into the two large arteries connected
to the heart.
- The tricuspid (tri-CUSS-pid) valve is in the
right side of the heart, between the right atrium and the right ventricle.
- The pulmonary (PULL-mun-ary) valve is in the
right side of the heart, between the right ventricle and the entrance to the
pulmonary artery, which carries blood to the lungs.
- The mitral (MI-trul) valve is in the left side of
the heart, between the left atrium and the left ventricle.
- The aortic (ay-OR-tik) valve is in the left side
of the heart, between the left ventricle and the entrance to the aorta, the
artery that carries blood to the body.
Valves are like doors that open and close. They open
to allow blood to flow through to the next chamber or to one of the arteries,
and then they shut to keep blood from flowing backward.
When the heart's valves open and close, they make a
"lub-DUB" sound that a doctor can hear using a stethoscope.
- The first soundthe lubis
made by the mitral and tricuspid valves closing at the beginning of systole
(SIS-toe-lee). Systole is when the ventricles contract, or squeeze, and pump
blood out of the heart.
- The second soundthe DUBis
made by the aortic and pulmonary valves closing at beginning of diastole
(di-AS-toe-lee). Diastole is when the ventricles relax and fill with blood
pumped into them by the atria.
Arteries
The arteries are major blood vessels connected to
your heart.
- The pulmonary artery carries blood pumped from
the right side of the heart to the lungs to pick up a fresh supply of
oxygen.
- The aorta is the main artery that carries
oxygen-rich blood pumped from the left side of the heart out to the body.
- The coronary arteries are the other important
arteries attached to the heart. They carry oxygen-rich blood from the aorta to
the heart muscle, which must have its own blood supply to function.
Veins
The veins are also major blood vessels connected to
your heart.
- The pulmonary veins carry oxygen-rich blood from
the lungs to the left side of the heart so it can be pumped out to the body.
- The vena cava is a large vein that carries
oxygen-poor blood from the body back to the heart.
For more information on how a healthy heart works,
see the Diseases and Conditions Index article on
How
the Heart Works. This article contains animations that show how your heart
pumps blood and how your hearts electrical system works.
Types of Congenital Heart Defects
Congenital heart defects change the normal flow of
blood through the heart because some part of the heart didnt develop
properly before birth.
There are many types of congenital heart defects.
They include simple ones such as a hole in the interior walls of the heart that
allows blood from the left and right sides of the heart to mix, or a narrowed
valve that blocks the flow of blood to the lungs or other parts of the
body.
Other defects are more complex. These include
combinations of simple defects, problems with where the blood vessels leading
to and from the heart are located, and more serious abnormalities in how the
heart develops.
Examples of Simple Congenital Heart Defects
Holes in the Heart (Septal Defects)
The septum is the wall that separates the chambers
on the left side of the heart from those on the right. It prevents mixing of
blood between the two sides of the heart. Sometimes, a baby is born with a hole
in the septum. When that occurs, blood can mix between the two sides of the
heart.
Atrial
septal defect (ASD). An ASD is a hole in the part of the septum
that separates the atriathe upper chambers of the heart. This heart
defect allows oxygen-rich blood from the left atrium to flow into the right
atrium instead of flowing to the left ventricle as it should. Many children who
have ASDs have few, if any, symptoms.
Normal Heart and Heart With Atrial
Septal Defect
Figure A shows the normal structure
and blood flow in the interior of the heart. Figure B shows a heart with an
atrial septal defect, which allows oxygen-rich blood from the left atrium to
mix with oxygen-poor blood from the right atrium.
An ASD can be small or large. Small ASDs allow only
a little blood to leak from one atrium to the other. Very small ASDs dont
affect the way the heart works and therefore dont need any special
treatment. Many small ASDs close on their own as the heart grows during
childhood. Medium to large ASDs allow more blood to leak from one atrium to the
other, and theyre less likely to close on their own.
Half of all ASDs close on their own or are so small
that no treatment is needed. Medium to large ASDs that need treatment can
usually be repaired using a catheter procedure. (See
How Are Congenital Heart Defects
Treated?)
Ventricular septal defect (VSD). A
VSD is a hole in the part of the septum that separates the ventriclesthe
lower chambers of the heart. The hole allows oxygen rich blood to flow from the
left ventricle into the right ventricle instead of flowing into the aorta and
out to the body as it should.
Normal Heart and Heart With
Ventricular Septal Defect
Figure A shows the normal structure
and blood flow in the interior of the heart. Figure B shows two common
locations for a ventricular septal defect. The defect allows oxygen-rich blood
from the left ventricle to mix with oxygen-poor blood in the right
ventricle.
A VSD can be small or large. A small VSD
doesnt cause problems and may often close on its own. Large VSDs cause
the left side of the heart to work too hard and increase blood pressure in the
right side of the heart and the lungs because of the extra blood flow. The
increased work of the heart can cause
heart
failure and poor growth. If the hole isnt closed, the high blood
pressure in the lungs can cause the delicate arteries in the lungs to scar, a
condition called
pulmonary
arterial hypertension. Open-heart surgery is used to repair VSDs.
Narrowed Valves
Simple congenital heart defects also can involve the
hearts valves, which control the flow of blood from the atria to the
ventricles and from the ventricles into the two large arteries connected to the
heart (the aorta and the pulmonary artery). Valves can have the following types
of defects:
- Stenosis. This is when the valve doesnt
open completely, and the heart has to work harder to pump the blood through the
valve.
- Atresia. This is when the valve doesnt form
correctly, so there is no opening for blood to pass through.
- Regurgitation (re-GUR-ji-TA-shun). This is when
the valve doesnt close completely, so blood leaks back through the valve.
The most common valve defect is called pulmonary
valve stenosis, which is a narrowing of the pulmonary valve. This valve allows
blood to flow from the right ventricle into the pulmonary arteries and out to
the lungs to pick up oxygen.
Pulmonary valve stenosis can range from mild to
severe. Most children with this defect have no signs or symptoms other than a
heart murmur. Treatment isn’t needed if the stenosis
is mild.
In a baby with severe pulmonary valve stenosis, the
right ventricle can get very overworked trying to pump blood to the pulmonary
arteries. Oxygen-poor blood can back up from the right side of the heart into
the left side, causing cyanosis. Cyanosis is a bluish tint to the skin, lips,
and fingernails. It occurs because the oxygen level in the blood leaving the
heart is below normal.
Older children with severe pulmonary valve stenosis
may have symptoms such as fatigue (tiredness) when exercising. Severe pulmonary
valve stenosis is treated with a catheter procedure.
Example of a Complex Congenital Heart Defect
Complex congenital heart defects need to be repaired
with surgery. Because of advances in diagnosis and treatment, doctors can now
successfully repair even very complex congenital heart defects.
The most common complex heart defect is
tetralogy of Fallot (teh-TRALL-o-gee of fall-O), a
combination of four defects:
- Pulmonary valve stenosis.
- A large VSD.
- An overriding aorta. The aorta sits above both
the left and right ventricles over the VSD, rather than just over the left
ventricle. As a result, oxygen poor blood from the right ventricle can flow
directly into the aorta instead of into the pulmonary artery to the lungs.
- Right ventricular hypertrophy. The muscle of the
right ventricle is thicker than usual because of having to work harder than
normal.
These defects prevent enough blood from flowing to
the lungs to get oxygen, while oxygen-poor blood flows directly out to the
body.
Normal Heart and Heart With
Tetralogy of Fallot
Figure A shows the normal structure
and blood flow in the interior of the heart. Figure B shows a heart with the
four defects of tetralogy of Fallot.
Babies and children with tetralogy of Fallot have
episodes of cyanosis, which can sometimes be severe. In the past, when this
condition wasnt treated in infancy, older children would get very tired
during exercise and could have fainting spells. Tetralogy of Fallot is now
repaired in infancy to prevent these types of symptoms.
Tetralogy of Fallot must be repaired with open heart
surgery, either soon after birth or later in infancy, depending on how severely
the pulmonary artery is narrowed. Children who have had this heart defect
repaired need lifelong medical care from a specialist to make sure they stay as
healthy as possible.
Other Names for Congenital Heart Defects
- Congenital heart disease
- Cyanotic heart disease
- Heart defects
- Congenital cardiovascular malformations
What Causes Congenital Heart Defects?
If you have a child with a congenital heart defect,
you may think you did something wrong during your pregnancy to cause the
problem. However, most of the time doctors dont know why congenital heart
defects develop.
Heredity may play a role in some heart defects. For
example, a parent who has a congenital heart defect may be more likely than
other people to have a child with the condition. In rare cases, more than one
child in a family is born with a heart defect. Children with genetic defects
often have congenital heart defects. An example of this is Down
syndromehalf of all babies with Down syndrome have congenital heart
defects.
Scientists continue to search for the causes of
congenital heart defects.
What Are the Signs and Symptoms of Congenital
Heart Defects?
Many congenital heart defects have few or no
symptoms. A doctor may not even detect signs of a heart defect during a
physical exam.
Some heart defects do have symptoms. These depend on
the number and type of defects and how severe the defects are. Severe defects
can cause symptoms, usually in newborn babies. These symptoms can include:
- Rapid breathing
- Cyanosis (a bluish tint to the skin, lips, and
fingernails)
- Fatigue (tiredness)
- Poor blood circulation
Congenital heart defects dont cause chest pain
or other painful symptoms.
Abnormal blood flow through the heart caused by a
heart defect will make a certain sound. Your doctor can hear this sound, called
a
heart murmur, with a stethoscope. However, not all murmurs are a sign of a
congenital heart defect. Many healthy children have heart murmurs.
Normal growth and development depend on a normal
workload for the heart and normal flow of oxygen-rich blood to all parts of the
body. Babies with congenital heart defects may have cyanosis or tire easily
when feeding. Sometimes they have both problems. As a result, they may not gain
weight or grow as they should.
Older children may get tired easily or short of
breath during exercise or activity. Many types of congenital heart defects
cause the heart to work harder than it should. In severe defects, this can lead
to heart
failure, a condition in which the heart cant pump blood strongly
throughout the body. Symptoms of heart failure include:
- Fatigue with exercise
- Shortness of breath
- A buildup of blood and fluid in the lungs
- A buildup of fluid in the feet, ankles, and
legs
How Are Congenital Heart Defects Diagnosed?
Serious congenital heart defects are generally
identified during pregnancy or soon after birth. Less severe defects
arent diagnosed until children are older. Minor defects often have no
symptoms and are diagnosed based on results from a physical exam and special
tests done for another reason.
Specialists Involved
Doctors who specialize in the care of babies and
children who have heart problems are called pediatric cardiologists. Other
specialists who treat heart defects in children include cardiac surgeons
(doctors who repair heart defects using surgery).
Physical Exam
During a physical exam, the doctor:
- Listens to your child’s heart and lungs
with a stethoscope
- Looks for other signs of a heart defect, such as
cyanosis (a bluish tint to the skin, lips, or fingernails), shortness of
breath, rapid breathing, delayed growth, or signs of
heart failure
Tests Commonly Used To Diagnosis Congenital Heart
Defects
Echocardiogram
This test, which is harmless and painless, uses
sound waves to create a moving picture of your childs heart. During an
echocardiogram,
reflected sound waves show the structure of the heart. The test allows the
doctor to clearly see any problem with the way the heart is formed or the way
its working.
An echocardiogram is an important test for both
diagnosing a heart problem and following the problem over time. In children
with congenital heart defects, an echocardiogram will outline the problems with
the hearts structure and show how the heart is reacting to these
problems. The echocardiogram will help your childs cardiologist decide if
and when treatment is needed.
During pregnancy, if your doctor suspects that your
baby has a congenital heart defect, a special test called a fetal
echocardiogram can be done. This test uses sound waves to create a picture of
the baby's heart while the baby is still in the womb. The test is usually done
during the fourth or fifth month of pregnancy. If your child is diagnosed with
a congenital heart defect before birth, your doctor can plan treatment before
the baby is born.
EKG (Electrocardiogram)
An
EKG detects and records the electrical activity of the
heart. An EKG shows how fast the heart is beating and whether the hearts
rhythm is steady or irregular. It can also detect if one of the hearts
chambers is enlarged, which can help diagnose a heart problem.
Chest X Ray
A chest x ray takes a picture of the heart and
lungs. It can show whether the heart is enlarged or whether the lungs have
extra blood or fluid, which can be a sign of heart failure.
Pulse Oximetry
Pulse oximetry shows how much oxygen is in the
blood. A sensor is placed on the childs fingertip or toe (like an
adhesive bandage). The sensor is attached to a small computer unit, which
displays a number that indicates how much oxygen is in the blood.
Cardiac Catheterization
During
cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin,
flexible tube called a catheter is passed through a vein in the arm, groin
(upper thigh), or neck to reach the heart. A dye that can be seen on an x ray
is injected through the catheter into a blood vessel or a chamber of the heart.
This allows the doctor to see the flow of blood through the heart and blood
vessels.
Cardiac catheterization also can be used to measure
the pressure inside the heart and blood vessels and to determine whether blood
is mixing between the two sides of the heart. Its also used to repair
some heart defects.
How Are Congenital Heart Defects Treated?
Although many children with congenital heart defects
dont need treatment, some do. Doctors treat congenital heart defects
with:
- Procedures using catheters to repair the defect
- Surgery to repair the defect
The treatment your child receives depends on the
type and severity of his or her heart defect. Other factors include your
childs age, size, and general health. Treatment can be simple or very
complex. Some children with complex congenital heart defects may need several
catheter or surgical procedures over a period of years, or may need to take
medicines for years.
Procedures Using Catheters
Catheter procedures are much easier than surgery on
patients because they involve only a needle puncture in the skin where the
catheter is inserted into a vein or an artery. Doctors dont have to
surgically open the chest or operate directly on the heart to repair the
defect. This means that recovery can be much easier and quicker.
The use of catheter procedures has grown a lot in
the past 20 years. They have become the preferred way to repair many simple
heart defects, such as:
-
Atrial septal defect. The doctor inserts the catheter through a vein and
threads it up into the heart to the septum. The catheter has a tiny
umbrella‑like device folded up inside it. When the catheter reaches the
septum, the device is pushed out of the catheter and positioned so that it
plugs the hole between the atria. The device is secured in place and the
catheter is then withdrawn from the body.
- Pulmonary valve stenosis. The doctor inserts the
catheter through a vein and threads it into the heart to the pulmonary valve. A
tiny balloon at the end of the catheter is quickly inflated to push apart the
leaflets, or doors, of the valve. The balloon is then deflated and
the catheter is withdrawn. Procedures like this can be used to repair any
narrowed valve in the heart.
Doctors often use an
echocardiogram
or a transesophageal (trans-e-SOF-ah-ge-al) echocardiogram (TEE) as well as an
angiogram to guide them in threading the catheter and doing the repair. A TEE
is a special type of echocardiogram that takes pictures of the back of the
heart through the esophagus (the tube leading from the mouth to the stomach).
TEE also is often used to define complex heart defects.
Catheter procedures also are sometimes used during
surgery to help repair complex defects.
Surgery
A child may need open-heart surgery if his or her
heart defect cant be fixed using a catheter procedure. Sometimes, one
surgery can repair the defect completely. If thats not possible, a child
may need more than one surgery over a period of months or years to fix the
problem.
Open-heart surgery may be done to:
- Close holes in the heart with stitches or with a
patch
- Repair or replace heart valves
- Widen arteries or openings to heart valves
- Repair complex defects, such as problems with
where the blood vessels near the heart are located and how they develop
Rarely, babies are born with multiple defects that
are too complex to repair. These babies may need a heart transplant. In this
procedure, the childs heart is replaced with a healthy heart from a
deceased child that has been donated by that childs family.
Living With a Congenital Heart Defect
The outlook for a child with a congenital heart
defect is much better today than in past years. Advances in testing and
treatment mean that most children with heart defects grow into adulthood and
are able to live active, productive lives. Many need no special care or only
occasional checkups with a cardiologist as they grow up and go through adult
life.
The small number of children who have complex heart
defects need long-term, special care by trained specialists to stay as healthy
as possible and maintain a good quality of life.
Children and Teens With Congenital Heart
Defects
Routine Medical Care
Ongoing medical care is important for your
childs health. This includes:
- Checkups with your childs heart specialist
as directed
- Checkups with your childs pediatrician or
family doctor for routine exams
- Taking medicines as prescribed
Most children with severe heart defects are at
increased risk for
bacterial
endocarditis, a serious infection of the heart valves or lining of the
heart. Your child's doctor or dentist may give your child antibiotics before
medical or dental procedures (such as surgery or dental cleanings) that could
allow bacteria into the bloodstream. Talk to your child's doctor about whether
your child needs to take antibiotics before such procedures.
As children with heart defects grow up and become
teens, its important that they understand what kind of defect they have,
how it was treated, and what kind of care may still be needed. This
understanding will help the teen take responsibility for his or her health. It
also will help ensure a smooth transition from care by a pediatric cardiologist
to care by an adult cardiologist. Young adults with complex congenital heart
defects require ongoing care by doctors who specialize in adult congenital
heart defects.
You may want to work with your health care providers
to put together a packet with medical records and information that covers all
aspects of your childs heart defect, including:
- Diagnosis
- Procedures or surgeries
- Prescribed medicines
- Recommendations about medical followup and how to
prevent complications
- Health insurance
Keeping your health insurance current is important.
For example, if your child is covered under health insurance through your
employer and you plan to change jobs, find out if health insurance through your
new employer will cover care for your childs congenital heart defect.
Some health insurance plans may not cover medical conditions that you or your
family member had before joining the new plan.
Its also very important for your child to have
health insurance as adulthood approaches. Review your current health insurance
plan. Find out how coverage can be extended to your child beyond the age of 18.
Some policies may allow you to keep your child on your plan if he or she
remains in school or is disabled.
Feeding and Nutrition
Some babies and children with congenital heart
defects dont grow and develop as fast as other children who are the same
age. If your childs heart has to pump harder than normal because of the
defect, he or she may tire quickly when feeding or eating and not be able to
eat enough.
As a result, your child may be smaller and thinner
than other children. Your child also may start activities such as rolling over,
sitting, and walking later than other children. After treatments and surgery,
growth and development often improve.
To help your baby get enough calories, discuss with
his or her doctor the best feeding schedule and any supplements your baby may
need. Make sure your child has nutritious meals and snacks as he or she grows
to help with growth and development.
Exercise and Physical Activity
Exercise helps children strengthen their muscles and
stay healthy. Discuss with your childs doctor how much and what kinds of
physical activities are best for your child. Some children and teens with
congenital heart defects may need to limit the amount or type of exercise they
do.
Remember to ask the doctor for a note for school and
other organizations describing any limits on your childs exercise or
physical activities.
Emotional Issues
Its common for children and teens with serious
conditions or illnesses to have a hard time emotionally or to feel isolated if
they have to be in the hospital a lot. Some feel sad or frustrated with their
body image and their inability to be a normal kid. Sometimes
brothers or sisters are jealous of a child who needs a lot of attention for
medical problems.
If you have concerns about your childs
emotional health, talk to his or her doctor.
Adults With Congenital Heart Defects
Adults with congenital heart defects who needed
regular medical checkups in their youth may need to keep seeing a specialist
who can care for their health. They will need to pay attention to the following
issues.
Medical History
Sometimes people mistakenly believe that the surgery
they had in childhood for their congenital heart defect was a cure.
They dont realize that regular medical followup may be needed in
adulthood to maintain good health.
Some adults may not know what kind of heart defect
they had (or still have) or how it was repaired. They should learn about their
medical history and know as much as possible about any medicines theyre
taking.
Preventing Bacterial Endocarditis
Some people may need antibiotics before medical or
dental procedures that could allow bacteria to enter the bloodstream. Talk to
your doctor about whether you need to take antibiotics before such procedures.
Regular brushing, flossing, and visits to the dentist also can help prevent
bacterial endocarditis.
Contraception and Pregnancy
Women who have heart defects should talk with their
doctors about the safest type of birth control. Many women can safely use most
methods, but some women should avoid certain types of birth control, such as
birth control pills or intrauterine devices (IUDs).
Many women with simple heart defects can have a
normal pregnancy and delivery. Women with congenital heart defects who want to
become pregnant (or who are pregnant) should talk with their doctor about the
health risks. They also may want to consult with specialists who help pregnant
women with congenital heart defects.
Health Insurance and Employment
When thinking about changing jobs, adults with
congenital heart defects should carefully consider the impact on their health
insurance coverage. Some health plans have waiting periods or clauses to
exclude some kinds of coverage. Before making any job changes, find out whether
the change will affect your health insurance coverage.
Several laws protect the employment rights of people
who have congenital heart defects. The Americans with Disabilities Act and the
Work Incentives Improvement Act try to ensure fairness in hiring for all
people, including those with health conditions such as heart defects.
Key Points
- Congenital heart defects are problems with the
hearts structure that are present at birth. Congenital heart defects
change the normal flow of blood through the heart.
- Congenital heart defects are the most common type
of birth defect, affecting 8 out of every 1,000 newborns. Each year, more than
35,000 babies in the United States are born with congenital heart defects.
- There are many types of congenital heart defects
ranging from simple to very complex.
- Doctors dont know what causes most
congenital heart defects. Heredity may play a role.
- Although many heart defects have few or no
symptoms, some do. Severe defects can cause symptoms such as:
- Rapid breathing.
- A bluish tint to skin, lips, and fingernails.
This is called cyanosis.
- Fatigue (tiredness).
- Poor blood circulation.
- Serious heart defects are usually diagnosed while
a baby is still in the womb or soon after birth. Some defects arent
diagnosed until later in childhood, or even in adulthood.
- An
echocardiogram
is an important test for both diagnosing a heart problem and following the
problem over time. This test helps diagnose problems with how the heart is
formed and how well it’s working. Other tests include
EKG (electrocardiogram), chest x ray, pulse oximetry, and
cardiac catheterization.
- Doctors treat congenital heart defects with
catheter procedures and surgery.
- Treatment depends on the type and severity of the
defect.
- With new advances in testing and treatment, most
children with congenital heart defects grow into adulthood and can live
healthy, productive lives. Some need special care all though their lives to
maintain a good quality of life.
Links to Other Information on Congenital Heart
Defects
NHLBI Resources
Non-NHLBI Resources
Clinical Trials
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