Vascular Genetics: Presentations, Testing, and Prognostics

Purpose of review Numerous studies have begun to unravel the genetic basis of not only aortic disease but also other forms of commonly encountered vascular diseases. The goal of this review is to provide clinicians a reference to help identify and diagnose different types of vascular disease with a...

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Bibliographic Details
Published in:Current treatment options in cardiovascular medicine 2018-12, Vol.20 (12), p.103-103, Article 103
Main Authors: Aday, Aaron W., Kreykes, Sarah E., Fanola, Christina L.
Format: Article
Language:English
Subjects:
Aortic aneurysms
Aortic dissection
Cardiology
Cardiovascular disease
Congenital diseases
Coronary vessels
Doppler effect
Families & family life
Family medical history
Genes
Genetic counseling
Genetic testing
Genomes
Marfan syndrome
Medicine
Medicine & Public Health
Mitral valve prolapse
Mutation
Pulmonary arteries
Scoliosis
Section Editor
Skin
Topical Collection on Vascular Disease
Vascular Disease (M Weinberg
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Summary:Purpose of review Numerous studies have begun to unravel the genetic basis of not only aortic disease but also other forms of commonly encountered vascular diseases. The goal of this review is to provide clinicians a reference to help identify and diagnose different types of vascular disease with a genetic underpinning. Recent findings Ongoing studies have identified numerous genes involved in the TGF-β signaling pathway that are also associated with thoracic aortic aneurysm and dissection, and it is possible to test for pathogenic variants in these genes in the clinical setting using commercially available genetic testing panels. Additional studies have begun to identify genetic variants associated with an increased risk of bicuspid aortic valve, abdominal aortic aneurysm, and fibromuscular dysplasia. Summary With increased availability of low-cost genetic testing, clinicians are now able to not only definitively diagnose some vascular syndromes but also provide information on the risk of disease in other family members, as well as provide guidance in terms of family planning. As the cost of genetic testing continues to drop with the benefit of increasing insurance coverage, genetic data will increasingly become part of clinical care for many patients with vascular disease.
ISSN:1092-8464
1534-3189
DOI:10.1007/s11936-018-0703-2