Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Erin Demo; Christina Rigelsky; Andrea L Rideout; Madeline Graf; Mitchel Pariani; Ellen Regalado; Gretchen MacCarrick

doi:10.1016/j.mcna.2019.08.001

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Med Clin North Am. 2019 Nov;103(6):1005-1019. doi: 10.1016/j.mcna.2019.08.001. Epub 2019 Aug 31.

Authors

Erin Demo¹, Christina Rigelsky², Andrea L Rideout³, Madeline Graf⁴, Mitchel Pariani⁵, Ellen Regalado⁶, Gretchen MacCarrick⁷

Affiliations

¹ Sibley Heart Center Cardiology, 2835 Brandywine Road, Suite 300, Atlanta, GA 30341, USA.
² Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, OH 44195, USA.
³ IWK Health Centre, 5850 University Avenue, PO Box 9700, Halifax, Nova Scotia B3K 6R8, Canada.
⁴ Stanford Health Care, 900 Blake Wilbur Drive, 3rd floor, Stanford, CA 94305, USA.
⁵ Stanford School of Medicine, 300 Pasteur Drive, 2nd Floor, Room H2157, Stanford, CA 94305, USA.
⁶ Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
⁷ Johns Hopkins School of Medicine, Blalock 1008, 600 North Wolfe Street, Baltimore, MD 21287, USA. Electronic address: goswald1@jhmi.edu.

PMID: 31582001
DOI: 10.1016/j.mcna.2019.08.001

Abstract

Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.

Keywords: Aortic aneurysm; Aortic dissection; Genetic counseling; Heritable thoracic aortic disease (HTAD); Marfan.

Publication types

Review

MeSH terms

Aorta, Thoracic / abnormalities*
Aortic Diseases* / genetics
Aortic Diseases* / therapy
Genetic Testing / methods*
Humans
Patient Care Management / methods*
Precision Medicine / methods