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Cardiovasc Pathol. 2012 Jul-Aug;21(4):240-4. doi: 10.1016/j.carpath.2011.09.004. Epub 2011 Oct 27.

Single gene disorders of the aortic wall.

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Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.


Genetic diseases that affect the vasculature primarily affect the aortic root and ascending aorta. These conditions lead to aortic root dilatation, which, if not treated, will result in dissection and death. Often, aortic disease is just one manifestation of a syndrome with diverse findings. Some of these diseases were described over 100 years ago based on physical manifestations, and their causative genes are among the first described Mendelian causes of cardiovascular disease. Within the pediatric and young adult population, there are over 15 causes of ascending aortic disease. Previously, these diverse diseases, along with their histopathology, have been extensively characterized. Most genetic causes of root aneurysm are extremely rare. Amongst these, five diseases are relatively common with known genetic mutations for which pathologists should be familiar. These are Marfan syndrome, vascular Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, and familial thoracic aneurysm and dissection. This review will focus on these important causes of genetic aortic disease. The aim is to briefly describe the historical record and physical manifestations and then focus on cardiovascular complications, the causative genes, and current research into these entities.

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