Interrupted aortic arch (IAA) is a rare condition in which the aorta—the
large blood vessel arising from the heart that carries blood to the rest of the
body—is incomplete, or interrupted.
The human heart has four chambers: the left atrium and right atrium (plural:
atria) at the top, and the left and right ventricles (pumping chambers) on the
bottom. Blood circulates through the atria and the ventricles to and from the rest of the body.
In a normal heart, blood that has picked up oxygen from the lungs comes into
the left atrium. From there, it goes into the left ventricle. The left ventricle
pumps this oxygenated blood through the aorta to the rest of the body. (see
image showing inside the heart).
The normal shape of the aorta is an arch or curve; in the case of an
interrupted aortic arch, a part of the aorta is missing and the aorta is
incomplete. This means that the heart cannot send blood through the aorta. This
is a life-threatening situation; if blood does not get to any part of the body,
the patient can go into shock and may die. (see image showing the heart with a normal aorta).
How common is interrupted aortic arch?
IAA is an extremely rare condition; it occurs in 2 of every 100,000 births.
What is the cause of interrupted aortic arch?
IAA is a genetic, or inherited disease. Specifically, a section of a
chromosome that affects the heart’s anatomy is missing. This is responsible for
changing the normal shape of the heart and its vessels.
Many babies who are born with IAA also have DiGeorge syndrome, which is also
a genetic disorder caused by the missing part of the same chromosome. Children
who are born with DiGeorge syndrome can suffer from repeated infections and
facial defects such as cleft lip.
Although it is rare, IAA is a life-threatening condition and must be treated
right away. Babies who are born with IAA usually show symptoms right away.
What are the symptoms of interrupted aortic arch?
Children who have IAA may have the following symptoms:
- weakness and fatigue
- rapid breathing
- rapid heartbeat
- poor feeding habits
In addition, the baby’s skin may appear gray in certain areas because blood
is not reaching that part of the body.
Children who are born with IAA may also have an atrial septal defect (ASD) or
ventricular septal defect (VSD). A septal defect is a hole in the septum, the
wall in the middle of the heart. In babies who have IAA, a ventricular septal
defect allows some oxygenated blood to move from the left ventricle to the right
ventricle, for circulation in the body.