Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

Aorta : Official Journal of the Aortic Institute at Yale-New Haven Hospital
Julie De BackerAnne De Paepe

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.

Citations

Oct 30, 2018·Canadian Journal on Aging = La Revue Canadienne Du Vieillissement·Michelle Pannor Silver
Jan 10, 2016·Journal of the American Heart Association·Bulat A ZiganshinJohn A Elefteriades
Feb 29, 2020·Human Mutation·Emma M WadeStephen P Robertson
Mar 16, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ruwan WeerakkodyTimothy J Aitman

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