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Review

Heritable Thoracic Aortic Disease Overview

Dianna M Milewicz  1 , Alana C Cecchi  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Heritable Thoracic Aortic Disease Overview

Dianna M Milewicz et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Define the clinical characteristics of thoracic aortic disease;

  2. 2

    Review the causes of heritable thoracic aortic disease;

  3. 3

    Provide a strategy for evaluation and genetic risk assessment for heritable thoracic aortic disease in a proband;

  4. 4

    Review management recommendations for individuals with heritable thoracic aortic disease;

  5. 5

    Inform genetic counseling and risk assessment in family members of a proband with heritable thoracic aortic disease.

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References

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    1. Boerio ML, Engelhardt NM, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM. Further evidence that ARIH1 rare variants predispose to thoracic aortic disease. Circ Genom Precis Med. 2022;15:e003707. - PMC - PubMed
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    1. Cecchi AC, Drake M, Campos C, Howitt J, Medina J, Damrauer SM, Shalhub S, Milewicz DM, et al. Current state and future directions of genomic medicine in aortic dissection: a path to prevention and personalized care. Semin Vasc Surg. 2022;35:51-9. - PMC - PubMed

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