Familial thoracic aortic aneurysm and aortic dissection
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| Familial thoracic aortic aneurysm and aortic dissection | |
|---|---|
 | |
| This disorder is inherited in an autosomal dominant fashion. | |
| Specialty | Medical genetics, Cardiology |
| Symptoms | high frequency of thoracic aortic aneurysms and aortic dissections in the family (including oneself) |
| Complications | Aortic rupture |
| Usual onset | Adolescence to early adulthood |
| Duration | Life-long |
| Causes | Genetic mutation |
| Prognosis | Poor |
| Frequency | Not known |
Familial thoracic aortic aneurysm and aortic dissection is a very rare vascular genetic disorder, it's characterized by recurrent thoracic aortic aneurysms and aortic dissections within a family, these mentioned complications affect one or more aortic segments without any other disease being associated with them. People with this disorder have a higher chance of having a potentially fatal aortic rupture.[1][2] This disorder is the cause of 20% of thoracic aortic aneurysms[3][4]
Some families affected by this condition have shown mild versions of some symptoms that are associated with Marfan syndrome and Loeys-Dietz syndrome, these signs include tall stature, joint hypermobility, cutaneous stretch marks, and either pectus excavatum or pectus carinatum. Less common symptoms in other affected families include scoliosis, congenital heart defects, inguinal hernia, and/or livedo reticularis.[5]