Interrupted aortic arch (patient information)

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 * Associate Editors-In-Chief: Jinhui Wu, M.D.; Priyamvada Singh, M.B.B.S. [mailto:psingh@perfuse.org]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [mailto:kfeeney@perfuse.org]

Overview
Interrupted aortic arch is a rare cyanosis congenital heart disease with absence or discontinuation of a portion of the aortic arch. It is thought to be a result of faulty development of the aortic arch system during the fifth to seventh week of fetal development. This condition leads oxygen-rich blood pumped out of the heart cannot reach the lower body and legs normally. Instead, the descending aorta is connected to the pulmonary artery by a blood vessel called the ductus arteriosus. The cause of interrupted aortic arch is thought to gene mutation. Usual signs and symptoms include rapid breathing, fast heart rate, weakness or fatigue, and poor feeding. Tests such as echocardiography and chest x-ray can show the enlarged right ventricle in patients. Treatments include medicines and surgery. The prognosis of interrupted aortic arch depends on the effect of surgery.

What are the symptoms of Interrupted aortic arch?
The signs and symptoms of interrupted aortic arch depend on the site of the arch interruption. Usual symptoms include:
 * Cyanosis
 * Rapid breathing
 * Fast heart rate
 * Weakness or fatigue
 * Poor feeding

Other health problems may also cause these symptoms. Only a doctor can tell for sure. A person with any of these symptoms should tell the doctor so that the problems can be diagnosed and treated as early as possible.

Who is at highest risk?
Like many congenital heart disease, the cause of interrupted aortic arch is not clear. Clinical surveys and basic research suggest that the gene mutation may play an important role during the pregnancy.

When to seek urgent medical care?
Call your health care provider if your baby has interrupted aortic arch and symptoms do not improve with treatment, or if new symptoms appear. If your baby experiences either of the following symptoms, seeking urgent medical care as soon as possible:
 * Sudden shortness of breath
 * Cyanosis

Diagnosis

 * Echocardiography: Echocardiography is the most commonly used imaging technique for the diagnosis of interrupted aortic arch. It can demonstrate the site of arch interruption, the size and anatomic type of the ventricular septal defect, the morphology of the aortic valve, and the anatomic severity of subaortic hypoplasia.
 * Electrocardiogram (ECG) and Holter monitoring: Electrocardiogram and Holter monitoring can tell electric activities of the heart for cardiovascular diseases. They can supply informations about heart rhythm and indirectly, heart size. Patients with interrupted aortic arch may show right ventricular hypertrophy sign.
 * Chest x-ray: An x-ray image of chest allows the doctor to check the size and shape of the heart to determine whether the heart is enlarged or not. And it also helps the doctor check the condition of your lungs. Patients with interrupted aortic arch may show an enlarged heart or an increased pulmonary vascularity.
 * Cardiac MRI and CT: Cardiac MRI and CT can create pictures of the ventricles, atrium, valves and major blood vessels. It can help doctors analyse the structure and function of the heart and decide the treatment protocols for the patient. Patient with interrupted aortic arch may reveal the site of the arch interruption and determine whether it affects other blood vessels in the child's body.
 * Cardiac catheterization: In a catheter room, the doctor threads a thin tube through a blood vessel in the patient's arm or groin to an artery in the heart and injects dye to see the heart and the arteries on an x-ray. Cardiac catheterization can reveal the site of arch interruption, the size and anatomic type of ventricular septal defect, and the anatomic severity of subaortic hypoplasia. It can also demonstrate whether the right subclavian artery is aberrant or not.

Treatment options
Treatments for patients with interrupted aortic arch are medicines and surgery. The goal of medicines is to stabilize and support the infant until surgical intervention to reconnect the aortic arch to create a continuous "tube" and close the ventricular septal defect. Before treatment starts, talk to your child's doctor about treatment options and your family's preferences on treatment decisions.
 * Medicines: Medicines such as prostaglandin and diuretics are used before surgery. Prostaglandin is administered intravenously and keeps the ductus arteriosus open. Diuretic therapy help the infant urinate excess fluid. There are some other drugs used to correct abnormal blood gases and supply nutrition for the baby.
 * Surgery: During the surgery, the anesthetist gives medicine to make the child sleepy and comfortable. Then the surgeons make a small cut between the ribs to reach the aorta arch and connect the two separate portions of the aorta, close the ventricular septal defect, and tie off the patent ductus arteriosus. Complications after surgery may include residual obstruction or stenosis at the aortic repair site. During the following peroid, the child needs to have a long-term follow-up by the cardiologist to assess growth of the aortic valve region and the reconstructed aortic arch.

Where to find medical care for interrupted aortic arch?
Directions to Hospitals Treating Interrupted aortic arch

What to expect (Outlook/Prognosis)?
The prognosis of interrupted aortic arch depends on the effect of surgery. In most cases, the prognosis is excellent with good surgical repair.

Diseases with similar symptoms

 * Aortic coarctation
 * DiGeorge syndrome
 * Velocardiofacial syndrome

Prevention
The cause is not clear. Screening test and regular check for people with genetic disorders may be helpful to decrease the risk of having a baby with interrupted aortic arch.