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CC BY 4.0 · Aorta (Stamford) 2013; 01(02): 135-145
DOI: 10.12945/j.aorta.2013.13-024
Basic Science for the Clinician
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genes in Thoracic Aortic Aneurysms and Dissections – Do they Matter?

Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice
Julie De Backer
1   Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
2   Department of Cardiology, University Hospital Ghent, Ghent, Belgium
,
Marjolijn Renard
1   Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
,
Laurence Campens
1   Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
2   Department of Cardiology, University Hospital Ghent, Ghent, Belgium
,
Katrien François
3   Department of Cardiovascular Surgery, University Hospital Ghent, Ghent, Belgium
,
Bert Callewaert
1   Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
,
Paul Coucke
1   Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
,
Anne De Paepe
1   Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium
› Author Affiliations
Further Information

Publication History

10 May 2013

03 June 2013

Publication Date:
28 September 2018 (online)

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Abstract

Since the identification of the fibrillin-1 gene as the causal gene for Marfan syndrome, our knowledge of molecular genetics and the applicability of genetic testing in clinical practice have expanded dramatically. Several new syndromes related to thoracic aortic aneurysms and dissections (TAAD) have been described and the list of underlying genes in syndromal and nonsyndromal TAAD already includes more than 10 different genes and is rapidly expanding. Based on this knowledge, our insights into the underlying pathophysiology of TAAD have improved significantly, and new opportunities for targeted treatment have emerged. Clinicians involved in the care of TAAD patients require a basic knowledge of the disease entities and need to be informed on the applicability of genetic testing in their patients and families. Gene-tailored treatment and management is indeed no science fiction anymore and should now be considered as part of good clinical practice. We provide a systematic overview of genetic TAAD entities and practical recommendations for genetic testing and patient management.

Key Words

Thoracic aortic aneurysms and dissections - Molecular genetic testing - Aneurysm syndrome
 

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