Congenital Heart Disease

Congenital Heart Disease

According to the American Heart Association, about 8 of every 1,000 babies born in the
U.S. have a congenital heart defect. This is a problem that occurs as the baby’s heart is
developing during pregnancy, before the baby is born. This is the most common type of birth
defect.

A baby’s
heart starts to develop at conception. But it is fully formed by 8 weeks into the
pregnancy. Congenital heart defects happen in the first 8 weeks of the baby’s development.
Certain steps must take place for the heart to form correctly. Often congenital heart
defects occur because one of these steps doesn’t happen at the right time. For example, a
hole is left where a dividing wall should have formed. Or a single blood vessel is formed
where 2 should have been.

What causes congenital heart disease?

Most
congenital heart defects have no known cause. Mothers will often wonder if something
they did during the pregnancy caused the heart problem. In most cases, no cause can be
found. Some heart problems do occur more often in families. So there may be a genetic
link to some heart defects. Some heart problems are likely to occur if the mother had a
disease while pregnant. Or if she was taking medicines, such as anti-seizure medicines
or the acne medicine isotretinoin. But most of the time, there is no clear reason for
the heart defect

Congenital heart problems range from simple to very complex. Some heart problems can be
watched by the baby’s healthcare provider and managed with medicines. Others will need
surgery. In some cases surgery is done in the first few hours after birth. A baby may
even grow out of some of the simpler heart problems. These include patent ductus
arteriosus (PDA) or atrial septal defect (ASD). These defects may simply close up on
their own with time or growth. Other babies will have a mix of defects. They will need
several surgeries during their lives.

What are the different types of congenital heart defects?

Experts group congenital heart defects into several categories. This helps to better
understand the problems the baby will have. They include:

  • Problems that cause too much blood to pass
    through the lungs.
    These defects let oxygen-rich blood that should be
    traveling to the body recirculate through the lungs. This causes more pressure and
    stress in the lungs.

  • Problems that cause too little blood to pass
    through the lungs.
    These defects allow blood that has not been to the lungs
    to pick up oxygen (oxygen-poor blood) to travel to the body. The body does not get
    enough oxygen with these heart problems. The baby may have a blue color
    (cyanosis).

  • Problems that cause too little blood to travel
    to the body.
    These defects are due to underdeveloped heart chambers or
    blockages in blood vessels. This prevents the correct amount of blood from going
    to the body to meet its needs.

Again, in some cases there will be a mix of a few heart defects. This creates a more
complex problem that can fall into a few of these categories.

Some
of the problems that cause too much blood to pass through the lungs include:

  • Patent ductus
    arteriosus (PDA).
    This defect occurs when the normal closure of the ductus
    arteriosus, which is present in all babies, does not occur. Extra blood then goes
    from the aorta into the lungs. This may lead to flooding of the lungs, very fast
    breathing, and poor weight gain. PDA is often seen in premature babies.



  • Atrial septal
    defect (ASD).
    In this condition, there is a hole between the 2 upper
    chambers of the heart (the right and left atria). This causes an abnormal blood
    flow through the heart. Some children may have no symptoms and look healthy. But
    if the ASD is large, then much more blood will pass to the right side. Then there
    will be symptoms. This causes extra blood to be pumped into the lungs by the right
    ventricle. This can create congestion in the lungs.



  • Ventricular septal
    defect (VSD).
    In this condition, there is a hole in the ventricular septum.
    This is a dividing wall between the 2 lower chambers of the heart (the right and
    left ventricles). Because of this opening, blood from the left ventricle flows
    back into the right ventricle, due to higher pressure in the left ventricle. This
    causes extra blood to be pumped into the lungs by the right ventricle. This can
    create congestion in the lungs.



  • Atrioventricular
    canal (AVC or AV canal).
    AVC is a heart problem that includes several
    abnormalities of structures in the heart. These include ASD, VSD, and incorrectly
    formed mitral or tricuspid valves. The mitral and tricuspid valves are the valves
    that separate the upper chambers (atrias) from the lower chambers (ventricles).
    Often this causes extra blood to be pumped into the lungs by the right ventricle.
    This can create congestion in the lungs.



Some
of the problems that cause too little blood to pass through the lungs include:

  • Tricuspid atresia. In this condition, the
    tricuspid valve does not form. So no blood flows from the right atrium to the
    right ventricle. Tricuspid atresia is marked by the following:

    • A small right ventricle

    • Poor blood flow to the lungs

    • A blue color of the skin and mucous
      membranes caused from a lack of oxygen (cyanosis)

    A series of surgeries is often needed to increase the blood flow to the lungs and
    create separate circulations.



  • Pulmonary atresia. With this condition, the
    pulmonary valve or artery are not fully developed. Normally the pulmonary valve is
    between the right ventricle and the pulmonary artery. The pulmonary valve has 3
    leaflets that work like a 1-way door. They let blood flow forward into the
    pulmonary artery. But they don’t let it flow backward into the right ventricle.
    With pulmonary atresia, problems with valve development stop the leaflets from
    opening. So blood can’t flow forward from the right ventricle to the lungs.

  • Transposition of the great arteries. The
    positions of the pulmonary artery and the aorta are reversed. So in this
    defect:

    • The aorta starts 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 starts from the left
      ventricle. So most of the oxygen-rich blood returning from the lungs goes
      back to the lungs again.



  • Tetralogy of
    Fallot.
    This condition is marked by these 4 defects:

    1. A ventricular septal defect. This lets
      blood pass from the right ventricle to the left ventricle without going
      through the lungs.

    2. A narrowing (stenosis) at, or just under,
      the pulmonary valve. This partly blocks blood flow from the right ventricle
      to the lungs.

    3. Thickening or enlargement of the right
      ventricle.

    4. The aorta lies right over the ventricular
      septal defect (called an overriding aorta).

    Tetralogy of Fallot can cause a blue color of
    the skin and mucous membranes due to lack of oxygen (cyanosis).



  • Double outlet
    right ventricle (DORV). 
    With this complex condition, both the aorta and the
    pulmonary artery are connected to the right ventricle.

  • Truncus
    arteriosus.
    During a baby’s normal development, the aorta and pulmonary
    artery start as 1 blood vessel. Then the vessel divides into 2 separate arteries.
    This condition occurs when the single large vessel doesn’t fully separate. This
    leaves a large connection between the aorta and the pulmonary artery.



Some
of the problems that cause too little blood to travel to the body include:

  • Coarctation of the aorta (CoA). In this
    condition, the aorta is narrowed or constricted. This blocks blood flow to the
    lower part of the body. And it increases blood pressure above the constriction.
    Often there are no symptoms at birth. But symptoms can occur as early as the first
    week of life. If there are severe symptoms of high blood pressure and congestive
    heart failure, surgery may be needed.



  • Aortic stenosis (AS). In AS, the aortic
    valve between the left ventricle and the aorta did not form correctly and is
    narrowed. This makes it hard for the heart to pump blood to the body. A normal
    valve has 3 leaflets (cusps). But a stenotic valve may have only 1 cusp
    (unicuspid) or 2 cusps (bicuspid). Aortic stenosis may not cause symptoms. But it
    may get worse over time. Surgery or a catheterization procedure may be needed to
    fix the blockage. Or the valve may need to be replaced with a manmade one.



A complex combination of heart defects known as hypoplastic left heart syndrome can also occur.

  • Hypoplastic left
    heart syndrome (HLHS).
    A combination of several abnormalities of the heart
    and the great blood vessels. In HLHS, most of the structures on the left side of
    the heart (including the left ventricle, mitral valve, aorta, and aortic valve)
    are small and underdeveloped. How underdeveloped they are will be different for
    each child. The left ventricle may not be able to pump enough blood to the body.
    HLHS is fatal without treatment.



Who treats
congenital heart defects?

Babies with congenital heart problems are followed by specialists called pediatric
cardiologists. These doctors diagnose heart defects. And they help manage a child’s
health before and after surgery to fix the heart problem. Specialists who fix heart
problems in the operating room are pediatric cardiovascular or cardiothoracic
surgeons.

Today, people with congenital heart disease (CHD) are living longer. The number of
adults with CHD is now greater than the number of babies born with CHD. This improved
survival rate is due to major advances in tests, treatments, and surgical methods.

Children with CHD who reach adulthood must move (transition) from pediatric care to
adult cardiac care. This is vital if they are to reach and maintain the highest level of
wellness. The type of care needed is based on the type of CHD a person has. Those with
simple CHD can often be cared for by a community adult cardiologist. Those with more
complex types of CHD must be cared for at a center that specializes in adult CHD.

Adults with CHD have different needs and concerns than children. Adults with CHD need
guidance for planning key life issues such as:

  • College
  • Career
  • Employment
  • Insurance
  • Activity
  • Lifestyle
  • Inheritance
  • Family planning
  • Pregnancy
  • Chronic care
  • Disability
  • End of life

Knowledge about certain CHDs, and expectations for long-term outcomes and possible
problems and risks, must also be reviewed. This is part of the successful move from
pediatric care to adult care. This transition starts in your child’s early teen years.
During this first phase, both you and your child’s specialist should talk about your
teen one day being responsible for their own care. This will depend on several factors,
such as your child’s ability to care for themselves. It’s best to start talking about
this when your child is fairly healthy. Your child will need to be able to:

  • Talk in some detail about their condition
  • List their medicines and when they take them
  • Tell if their condition is changing or getting worse

Helping your teen transition to adult cardiac care

As a parent, you must help your
young teen get ready to transition to adult cardiac care. Make sure your child knows
the details of their condition and their medicines. Help them understand they must
start to take control of their care as a young adult. This will help ensure a smooth
transition to adult care. And it will help ensure the best possible health outcomes
for your child as a young adult with CHD. Talk with your child’s pediatric
cardiologist about how to make the change from pediatric to adult providers. Here are
some things to think about:

  • Ask your child’s healthcare team when they typically move
    children to adult clinics.

  • Ask the healthcare team for advice in finding qualified
    doctors.

  • Plan for changes in insurance.

  • Understand the psychological challenges that can occur
    when teens move to an adult practice. They may feel nervous, excited,
    hopeful, and frustrated. It’s important for the teen to have someone besides
    a family member to talk with. They can discuss how their disease may affect
    dating and other social relationships.

  • Work with your pediatric clinic to make a list of goals
    for this move. Check on these goals at each routine visit.

  • Talk with your child early and often about his or her
    role as a patient. Taking a greater role in their own care over time is a
    big responsibility. Give positive reinforcement when your child shows
    independence in managing their own healthcare.