Familial+Dissecting+Aneurysms+of+the+Aorta

**Familial Aortic Dissection with Iris Anomolies** by NC and RW **Prognosis ** A doctor can look and see whether or not the disease poses immediate risk or if something could happen later in life. Without proper treatment, early death in 30's or 40's is expected. **Treatment **  Although the risk for an aneurysm will always be higher for a person with this disease, simple things can be done to help prevent symptoms. Patients should see a cardiologist regularly and watch their blood pressure. Hypertension can increase the risk of having an aneurysm. If the person has an aneurysm or the disease develops, depending on the severity, treatment can be as simple as a stent or as difficult as aortic replacement.
 * Type of genetic disorder ** This disorder is inherited as a dominant allele. An insertion on gene 10 causes the disease. Only five families in the United States have this disorder.
 * Description of symptoms/ affects ** [[image:iris_anomoly.jpg width="413" height="165" align="left"]] The only outward symptom of this disease is a fried egg shaped pupil and flocculi around the edge of the pupil--this is the Iris Anomoly (see picture left). However, someone with this disease has only a thin aoritc layer and is prone to aneurysms. Usually, someone with this disease will experience an aneurysm in their late twenties to early thirties and women may experience an aneurysm during childbirth.
 * Diagnosis ** There is a genetic test used to determine whether or not a person has the gene for this disease. The test was first started by the University of Texas and has been around for only a few years.

https://www.healthbase.com/hb/images/cm/aorta.jpg This is a human aorta. **Statistics on born ** This disease is isolated to a few families in the US. If someone has it, there is a 50/50 chance they will pass it on to their children. This picture is an actual Central Pennsylvania family's pedigree from 1997. **Sources"Iris Flocculi and Familial Aortic Dissection", Archives of Opthamology. 1995.

Kontusaari, Sirpa et al., "Inheritance of a RNA Splicing Mutation", The American Society of Human Genetics. 1990.

Telephone Interview with Nancy Clark and Van Tran-Fadulu, MS. 7 March 2007.

Pictures cited with URLs, except those which come from my records.

Comments

Too short, It looks like you just copy the information from wikispace (Cri-Du-Chat, NN) **