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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial thoracic aortic aneurysm and dissection


Other Names for this Disease
  • Familial TAAD
  • Familial aortic aneurysm
  • Familial thoracic aortic aneurysm
  • Annuloaortic ectasia
  • Familial aortic dissection
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Familial thoracic aortic aneurysm and dissection (Familial TAAD) is a rare condition that affects the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). In people affected by this condition, the thoracic aorta (the upper part of the aorta, near the heart) may become weakened, stretched and/or enlarged. This can lead to a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta's inner and outer walls (also called a dissection). These aortic abnormalities can be life-threatening as they can decrease blood flow to other parts of the body and/or cause the aorta to rupture. The onset of the condition varies significantly from person to person, even within the same family. Familial TAAD can be caused by changes (mutations) in several different genes and is inherited in an autosomal dominant manner.[1][2] Treatment is generally based on the signs and symptoms present in each person and may include medications to reduce stress on the aorta and surgery to repair aortic abnormalities. Surveillance is generally recommended for at-risk relatives.[2][3]
Last updated: 4/5/2016

References

  1. Familial thoracic aortic aneurysm and dissection. Genetics Home Reference. January 2015; https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection.
  2. Dianna M Milewicz, MD, PhD and Ellen Regalado, MS, CGC. Thoracic Aortic Aneurysms and Aortic Dissections. GeneReviews. January 2012; http://www.ncbi.nlm.nih.gov/books/NBK1120/.
  3. Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ. Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. Ann Vasc Surg. 2014 Nov;28(8):1909-12. November 2014; 28(8):1909-1912.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial thoracic aortic aneurysm and dissection. This website is maintained by the National Library of Medicine.
  • The Marfan Foundation offers an information page on Familial thoracic aortic aneurysm and dissection. Please click on the link to access this resource.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Familial thoracic aortic aneurysm and dissection in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial thoracic aortic aneurysm and dissection. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial TAAD
  • Familial aortic aneurysm
  • Familial thoracic aortic aneurysm
  • Annuloaortic ectasia
  • Familial aortic dissection
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.