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Genetic testing for aortopathies

primer for the nongeneticist

De Backer, Juliea,*; Jondeau, Guillaumeb,*; Boileau, Cathérineb,c,d

doi: 10.1097/HCO.0000000000000669

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

Summary 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.

aVASCERN HTAD European Reference Centre, Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

bVASCERN HTAD European Reference Centre, Centre National Maladies Rares pour le Syndrome de Marfan et apparente[Combining Acute Accent]s

cDe[Combining Acute Accent]partement de Ge[Combining Acute Accent]ne[Combining Acute Accent]tique, AP-HP

dLVTS, INSERM U1148, Universite[Combining Acute Accent] Paris Diderot, Ho[Combining Circumflex Accent]pital Bichat, Paris, France

Correspondence to Julie De Backer, MD, PhD, Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, C. Heymanslaan 10, 9000 Ghent, Belgium. Tel: +32 9 332 56 27; e-mail:

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