About coa syndrome
What is coa syndrome?
Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment that is present at birth (congenital).
In individuals with KFS, there is abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Duane syndrome is characterized by limitation or absence of certain horizontal eye movements; retraction or "drawing back" of the eyeball into the eye cavity (orbit) upon attempting to look inward; and, in some cases, abnormal deviation of one eye in relation to the other (strabismus). In some affected individuals, additional physical abnormalities may also be present. In most cases, Wildervanck syndrome appears to occur randomly for unknown reasons (sporadically).
What are the symptoms for coa syndrome?
Babies with severe coarctation of the aorta may begin having symptoms shortly after birth. These include:
People with coarctation of the aorta may also have signs or symptoms of other heart defects, which often occur with the condition.
Signs or symptoms of coarctation of the aorta after infancy commonly include:
- High blood pressure
- Muscle Weakness
- Leg cramps or cold feet
- Chest pain
What are the causes for coa syndrome?
Doctors aren't certain what causes coarctation of the aorta. The condition is generally present at birth (congenital). Congenital heart defects are the most common of all birth defects.
Rarely, coarctation of the aorta develops later in life. Conditions or events that can narrow the aorta and cause this condition include:
- Traumatic injury
- Severe hardening of the arteries (atherosclerosis)
- Inflamed arteries (Takayasu's arteritis)
Coarctation of the aorta usually occurs beyond the blood vessels that branch off to your upper body and before the blood vessels that lead to your lower body. This can often lead to high blood pressure in your arms but low blood pressure in your legs and ankles.
With coarctation of the aorta, the lower left heart chamber (left ventricle) of your heart works harder to pump blood through the narrowed aorta, and blood pressure increases in the left ventricle. This may cause the wall of the left ventricle to thicken (hypertrophy).
What are the treatments for coa syndrome?
Treatment for coarctation of the aorta depends on your age at the time of diagnosis and the severity of your condition. Other heart defects might be repaired at the same time as aortic coarctation.
A doctor trained in congenital heart conditions will evaluate you and determine the most appropriate treatment for your condition.
Medication isn't used to repair coarctation of the aorta. However, your doctor may recommend it to control blood pressure before and after stent placement or surgery. Although repairing aortic coarctation improves blood pressure, many people still need to take blood pressure medication after a successful surgery or stenting.
Babies with severe coarctation of the aorta often are given a medication that keeps the ductus arteriosus open. This allows blood to flow around the constriction until the coarctation is repaired.
Surgery or other procedures
There are several surgeries to repair aortic coarctation. Your doctor can discuss with you which type is most likely to successfully repair your or your child's condition. The options include:
- Resection with end-to-end anastomosis. This method involves removing the narrowed segment of the aorta (resection) followed by connecting the two healthy sections of the aorta together (anastomosis).
- Subclavian flap aortoplasty. A part of the blood vessel that delivers blood to your left arm (left subclavian artery) might be used to expand the narrowed area of the aorta.
- Bypass graft repair.This technique involves bypassing the narrowed area by inserting a tube called a graft between the portions of the aorta.
- Patch aortoplasty. Your doctor might treat your coarctation by cutting across the narrowed area of the aorta and then attaching a patch of synthetic material to widen the blood vessel. Patch aortoplasty is useful if the coarctation involves a long segment of the aorta.
Balloon angioplasty and stenting
This procedure may be used as a first treatment for aortic coarctation instead of surgery, or it may be done if narrowing occurs again after coarctation surgery.
During balloon angioplasty, your doctor inserts a thin, flexible tube (catheter) into an artery in your groin and threads it through your blood vessels to your heart using X-ray imaging.
Your doctor places an uninflated balloon through the opening of the narrowed aorta. When the balloon is inflated, the aorta widens and blood flows more easily. Sometimes, a mesh-covered hollow tube (stent) is placed in the aorta to keep the narrowed part of the aorta open.
What are the risk factors for coa syndrome?
Coarctation of the aorta often occurs along with other congenital heart defects. Certain heart conditions are often associated with coarctation, including:
- Bicuspid aortic valve. The aortic valve separates the lower left chamber (left ventricle) of the heart from the aorta. A bicuspid aortic valve has two flaps (cusps) instead of the usual three. Many people with coarctation of the aorta have a bicuspid aortic valve.
- Sub-aortic stenosis. Sub-aortic stenosis occurs when there is a narrowing of the area below the aortic valve that obstructs blood flow from the left ventricle to the aorta. This narrowing may be in the form of a fibrous membrane.
- Patent ductus arteriosus. The ductus arteriosus is a blood vessel that connects a baby's left pulmonary artery to the aorta. It allows blood to bypass the lungs while the baby is growing in the womb. Shortly after birth, the ductus arteriosus usually closes. If it remains open, it's called a patent ductus arteriosus.
- Holes in the wall between the left and right sides of the heart. Some people are born with a hole in the wall (septum) between the upper heart chambers (atrial septal defect) or the lower heart chambers (ventricular septal defect).This causes oxygen-rich blood from the left side of the heart to mix with oxygen-poor blood in the right side of the heart.
- Congenital mitral valve stenosis. The mitral valve is between the upper and lower left heart chambers. It lets blood flow through the left side of your heart. In mitral valve stenosis, the valve is narrowed. As a result, the movement of blood between the upper and lower left heart chambers is reduced, increasing the pressure in the upper left chamber (atrium). The oxygen-rich blood from the lungs returns to the heart through veins that attach to the upper left chamber. Increased pressure in the left atrium may result in symptoms of lung congestion. These symptoms include shortness of breath, difficulty breathing during exercise and shortness of breath when lying flat.
Coarctation of the aorta is more common in males than in females, as well as in those who have certain genetic conditions, such as Turner syndrome.