Familial aortic dissection is a genetic disorder that involves problems with the aorta. The aorta is the main blood vessel that helps carry blood from the heart to the rest of the body. In this condition the aorta can become weak and may stretch, known as an aneurysm. If the aorta tears, this is called dissection. The aneurysm can cause symptoms like jaw, neck, chest, and back pain, difficulty swallowing, difficulty breathing, or coughing up blood. The dissection can cause sudden back or chest pain, pale skin, and tingling sensations throughout the body. The stabbing pain can also move to other places in the body as the condition gets worse.
Familial aortic dissection is inherited in an autosomal dominant manner. Autosomal dominant means an individual inherits one copy of the changed gene, or mutation, in order to have the condition. It can be caused by a change in one of several genes, including ACTA2 and TGFBR2. However, some people that inherit a copy of the changed gene do not develop any symptoms or complications of familial aortic dissection. Even though the condition is genetic, the timing of the symptoms is not always the same. Sometimes, the aortic dissection may appear in childhood, and sometimes it appears later.
Familial aortic dissection is very dangerous and should be treated right away. Usually, doctors can diagnose familial aortic dissection by listening to your heart and lungs, taking chest x-rays, and taking pictures of the heart. The condition is usually treated by medications that reduce stress on the aorta. If the damage gets bad enough, surgery may be done on the aorta to prevent the dissection from getting any worse. If you or a family member has been diagnosed with familial aortic dissection, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 15, 2018