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Genetic testing for aortopathies : primer for the nongeneticist

(2019) CURRENT OPINION IN CARDIOLOGY. 34(6). p.585-593
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Abstract
Purpose of review Although the majority of thoracic aortic aneurysms and dissections (TAD) in the overall population are mainly related to arterial hypertension and atherosclerosis, Heritable Thoracic Aortic Disease (HTAD) are increasingly recognized, especially in younger individuals. As fatal events in the setting of HTAD are preventable with timely detection and appropriate management, this review aims to provide an overview of the genetic basis of HTAD and practical recommendations for genetic evaluation in this setting. Recent findings Thanks in part to a number of important efforts to set up (inter)national networks and consortia for collecting clinical and genetic data from patients with these rare disorders, significant progress has been made in understanding the natural evolution of these disorders. These insights are now starting to enable the development of recommendations for the management of these patients. In addition, pathogenic variants in a number of new genes have been identified in HTAD patients. On the basis of more extensive genetic screening in cohorts of patients with TAD, it is becoming clear that there is no strict boundary between syndromal and nonsyndromal HTAD entities. It is, therefore, important to at least consider genetic evaluation, not only for patients presenting with syndromic forms but also for more isolated TAD. Finally, there are indications that we will -- up to a certain point -- soon be able to draw up a more precise policy for individual patients, based on the underlying genetic defects Genetic evaluation in (young) patients with both syndromic and nonsyndromic forms of HTAD should be considered and is helpful for the development of more precise medicine.
Keywords
aortic dissection, genetics, thoracic aortic aneurysm, THORACIC AORTIC-ANEURYSM, TGFBR2 MUTATIONS, MARFAN-SYNDROME, DISEASE, DISSECTIONS, VARIANTS, SEX

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MLA
De Backer, Julie, et al. “Genetic Testing for Aortopathies : Primer for the Nongeneticist.” CURRENT OPINION IN CARDIOLOGY, vol. 34, no. 6, 2019, pp. 585–93.
APA
De Backer, J., Jondeau, G., & Boileau, C. (2019). Genetic testing for aortopathies : primer for the nongeneticist. CURRENT OPINION IN CARDIOLOGY, 34(6), 585–593.
Chicago author-date
De Backer, Julie, Guillaume Jondeau, and Cathérine Boileau. 2019. “Genetic Testing for Aortopathies : Primer for the Nongeneticist.” CURRENT OPINION IN CARDIOLOGY 34 (6): 585–93.
Chicago author-date (all authors)
De Backer, Julie, Guillaume Jondeau, and Cathérine Boileau. 2019. “Genetic Testing for Aortopathies : Primer for the Nongeneticist.” CURRENT OPINION IN CARDIOLOGY 34 (6): 585–593.
Vancouver
1.
De Backer J, Jondeau G, Boileau C. Genetic testing for aortopathies : primer for the nongeneticist. CURRENT OPINION IN CARDIOLOGY. 2019;34(6):585–93.
IEEE
[1]
J. De Backer, G. Jondeau, and C. Boileau, “Genetic testing for aortopathies : primer for the nongeneticist,” CURRENT OPINION IN CARDIOLOGY, vol. 34, no. 6, pp. 585–593, 2019.
@article{8625187,
  abstract     = {Purpose of review Although the majority of thoracic aortic aneurysms and dissections (TAD) in the overall population are mainly related to arterial hypertension and atherosclerosis, Heritable Thoracic Aortic Disease (HTAD) are increasingly recognized, especially in younger individuals. As fatal events in the setting of HTAD are preventable with timely detection and appropriate management, this review aims to provide an overview of the genetic basis of HTAD and practical recommendations for genetic evaluation in this setting. Recent findings Thanks in part to a number of important efforts to set up (inter)national networks and consortia for collecting clinical and genetic data from patients with these rare disorders, significant progress has been made in understanding the natural evolution of these disorders. These insights are now starting to enable the development of recommendations for the management of these patients. In addition, pathogenic variants in a number of new genes have been identified in HTAD patients. On the basis of more extensive genetic screening in cohorts of patients with TAD, it is becoming clear that there is no strict boundary between syndromal and nonsyndromal HTAD entities. It is, therefore, important to at least consider genetic evaluation, not only for patients presenting with syndromic forms but also for more isolated TAD. Finally, there are indications that we will -- up to a certain point -- soon be able to draw up a more precise policy for individual patients, based on the underlying genetic defects Genetic evaluation in (young) patients with both syndromic and nonsyndromic forms of HTAD should be considered and is helpful for the development of more precise medicine.},
  author       = {De Backer, Julie and Jondeau, Guillaume and Boileau, Cathérine},
  issn         = {0268-4705},
  journal      = {CURRENT OPINION IN CARDIOLOGY},
  keywords     = {aortic dissection,genetics,thoracic aortic aneurysm,THORACIC AORTIC-ANEURYSM,TGFBR2 MUTATIONS,MARFAN-SYNDROME,DISEASE,DISSECTIONS,VARIANTS,SEX},
  language     = {eng},
  number       = {6},
  pages        = {585--593},
  title        = {Genetic testing for aortopathies : primer for the nongeneticist},
  url          = {http://dx.doi.org/10.1097/HCO.0000000000000669},
  volume       = {34},
  year         = {2019},
}

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