Patton: Structure & Function of the

Human Body

Connect It!
Congenital Heart Defects

A congenital heart defect is an abnormality of the anatomy of the heart or vessels at birth and is one of
the most common types of birth defects. The defect may disrupt the normal blood flow through the heart
or may have no symptoms. It is estimated that about 8 out of 1,000 live births have this defect. The
causes may range from genetic to environmental. Environmental causes that can alter the development
of the fetal heart include teratogens such as radiation, maternal infection or uncontrolled diabetes, drugs,
and chemicals. Table 1 gives a list of congenital heart defects.

Malformation Incidence per 1 Million Live %

Births
Ventricular septal defect 4,482 42
Atrial septal defect 1,043 10
Pulmonary stenosis 836 8
Patent ductus arteriosus 781 7
Tetralogy of Fallot 577 5
Coarctation of aorta 492 5
Atrioventricular septal defect 396 4
Aortic stenosis 388 4
Transposition of great arteries 388 4
Truncus arteriosus 136 1
Total anomalous pulmonary 120 1
venous connection
Tricuspid atresia 118 1
Total 9,757
Data from Hoffman JI, Kaplan S: The incidence of congenital heart disease. J Am Coll Cardiol 39:1890,
2002. In Kumar V, Abbas AK, Aster JC: Robbins basic pathology, ed 9, Philadelphia, 2013, Saunders.

Because of early detection and surgical techniques, there are many people who survive heart disease
and are able to have productive and healthy lives. A 2010 Olympic gold medal winner had surgery for a
congenital heart defect when he was an infant, showing that early surgical solutions are very successful.
Others patients will need to be monitored and may have to seek medical interventions more frequently.
The future possibility of fetal gene tests and stem cells implanted before birth may be the next level of
treatment.

Exams and Tests

Some structural heart defects may be identified while the fetus is still in the uterus, while others are
identified after the baby is born. Tests include fetal echocardiography using ultrasound, as well as
listening for heart murmurs or extra heart sounds with a stethoscope or using echocardiography after

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birth. Medical interventions may occur shortly after the baby is born, while some may have heart surgery
before birth. Catheters may also be used to confirm defects.

Symptoms
Severe heart defects may be determined in newborns based on symptoms which include cyanosis (bluish
tint to lips, skin, and fingernail beds), rapid breathing, fatigue, or poor blood circulation. Some children
have no symptoms and do not require treatment.

Treatment
Treatment depends on the type of defect and may include medicines, catheter procedures in which a
small tube is inserted into a vessel to the heart, surgery, and heart transplants. The severity of the
condition as well as the age and health of the child may determine the type of intervention used.

Specific Defects
Two of the congenital heart defects shown in Table 1 are actually normal anatomy for a fetus that fails to
change in the months after birth. While not the most common, they are some of the ones that are the
most reversible. Once condition is patent ductus arteriosus (PDA) (PAT-ent DUK-tus ar-teer-ee-OH-sus
[pee dee ay]). PDA occurs when a vessel between the pulmonary artery and aorta that bypasses the
lungs remains open or patent. The other condition is called patent foramen ovale (PFO) (PAT-ent foh-
RAY-men oh-VAL-ee [pee ef oh]). PFO is an atrial septal defect in which the normal fetal opening
between the right and left atrium fails to close.

Patent Ductus Arteriosus (PDA)

Figure 1, A, shows the normal heart after birth, with a ligament connecting the aorta to the pulmonary
artery where there used to be a vessel or duct in the fetus. This ligament forms within a few days after
birth. The duct in the fetus allows blood to bypass the lungs as the placenta is the organ that is used to
deliver oxygen to the fetus. After birth, the lungs take over the process of obtaining oxygen, requiring the
full delivery of blood from the pulmonary artery.

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The fetal heart has a normal duct between the pulmonary artery and the aorta. When it remains open
after birth, the condition is called patent ductus arteriosus or simply PDA (Figure 1, B). This condition is
more common in girls, premature infants, babies with Down syndrome, and babies exposed to rubella
while they were in the uterus.

There may not always be symptoms of this condition. When symptoms occur, they may include rapid
breathing, poor feeding, fast heart rate, seating while feeding, poor growth, and fatigue. Diagnosis may
involve listening for murmurs or echocardiogram images. Some conditions are not identified until later in
childhood when symptoms may become more severe.

The duct may close on its own. In premature infants, a PDA may close within 2 years after birth. Other
infants should have closure of the PDA within a few days. PDA surgery may involve a catheter (small
hollow tube) threaded into a blood vessel leading to the heart. The catheter may be used to place a small
metal coil or another plugging device into the duct. If the catheter technique can’t be used, surgery may
be done to tie off the duct after making a small cut between the ribs to reach the PDA.

Medical intervention helps prevent more serious conditions, including heart failure, high blood pressure,
or infection of the inner lining of the heart, from developing. There may also be other congenital defects
that occur with PDA that require the duct to remain open until the other defects are addressed. Medicines
may be used to keep the duct from closing.

Patent Foramen Ovale (PFO) or Atrial Septal Defects (ASD)

The foramen ovale is a normal fetal structure found in the interatrial septum. This opening is another
method (see ductus arteriosus) that allows fetal blood to bypass the lungs which are not yet functioning in
the delivery of oxygen. Blood going from the right atrium into the left atrium will have oxygen obtained
from the placenta. Blood will leave the left atria and go to the left ventricle. The blood then moves out of
the aorta to the organ systems of the body.

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An atrial septal defect (ASD) (AYT-ree-al SEP-tal DEE-fekt [ay es dee]) such as PFO may be genetic or
may be caused by epigenetic changes of genes due to environmental factors. The opening should close
after birth, but 25% of people may have a PFO that doesn’t close and may not cause any symptoms.

An echocardiogram may be used to diagnose a PFO. A transesophageal echo (TEE), which uses a small
ultrasound probe placed in the esophagus, is used to obtain a clear image that avoids sending sound
waves through the outer chest wall. Sometime an infant with PFO will have a bluish skin color (cyanosis)
when straining while crying or having a bowel movement. This condition would indicate that a surgical
solution may be required to close the hole. The oxygen levels would be lower as the blood would travel
from the right atrium to the left atrium and bypass the lungs.

Treatment of PFO depends on the severity of the symptoms. Blood thinners may be used to prevent clots
from traveling to the brain in some patients, while a cardiac catheter can be used to deliver a blocking
device similar to that seen in PDA cases in some situations.

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