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Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Demo, Erin; Rigelsky, Christina; Rideout, Andrea L; Graf, Madeline; Pariani, Mitchel; Regalado, Ellen; MacCarrick, Gretchen.
Affiliation
  • Demo E; Sibley Heart Center Cardiology, 2835 Brandywine Road, Suite 300, Atlanta, GA 30341, USA.
  • Rigelsky C; Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, OH 44195, USA.
  • Rideout AL; IWK Health Centre, 5850 University Avenue, PO Box 9700, Halifax, Nova Scotia B3K 6R8, Canada.
  • Graf M; Stanford Health Care, 900 Blake Wilbur Drive, 3rd floor, Stanford, CA 94305, USA.
  • Pariani M; Stanford School of Medicine, 300 Pasteur Drive, 2nd Floor, Room H2157, Stanford, CA 94305, USA.
  • Regalado E; Invitae, 1400 16th Street, San Francisco, CA 94103, USA.
  • MacCarrick G; Johns Hopkins School of Medicine, Blalock 1008, 600 North Wolfe Street, Baltimore, MD 21287, USA. Electronic address: goswald1@jhmi.edu.
Med Clin North Am ; 103(6): 1005-1019, 2019 Nov.
Article in En | MEDLINE | ID: mdl-31582001
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.
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Full text: 1 Database: MEDLINE Main subject: Aorta, Thoracic / Aortic Diseases / Patient Care Management / Genetic Testing Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Med Clin North Am Year: 2019 Type: Article Affiliation country: United States

Full text: 1 Database: MEDLINE Main subject: Aorta, Thoracic / Aortic Diseases / Patient Care Management / Genetic Testing Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Med Clin North Am Year: 2019 Type: Article Affiliation country: United States