Send to

Choose Destination
See comment in PubMed Commons below
Curr Opin Cardiol. 2002 Nov;17(6):677-83.

Genetic basis of thoracic aortic aneurysms and dissections.

Author information

  • 1Division of Medical Genetics, Department of Internal Medicine, The University of Texas Medical School at Houston, 6431 Fannin, Houston, TX 77030, USA.


The major diseases affecting the aorta are aortic aneurysms and dissections, which are classified based on anatomic location. Diseases affecting the ascending aorta, such as thoracic aortic aneurysms and type I and II dissections, are primarily associated with medial necrosis on pathologic examination. Medial necrosis is characterized by fragmentation and loss of elastic fibers, loss of smooth muscle cells, and interstitial collections of collagenous tissue and basophilic ground substance. Medial necrosis occurs as part of the normal aging of the aorta but is accelerated by other conditions, including hypertension and genetic alterations that predispose persons to these aortic diseases. The etiologies of many of the genetic syndromes, such as Marfan syndrome, that predispose persons to thoracic aortic aneurysms and dissections are understood. Studies are just beginning to elucidate the genes that predispose persons without known syndromes to these aortic diseases, and a major locus for this condition, termed the TAAD1 locus, has been mapped to 5q13-14. Future characterization of this gene and others will enhance the ability to determine persons at risk for aortic aneurysms and dissections and will define molecular mechanisms involved in the pathogenesis of this disorder.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Lippincott Williams & Wilkins
    Loading ...
    Support Center