Genes in thoracic aortic aneurysms/dissections - do they matter?

Abstract

Over the past decade, our knowledge of the genetic background of thoracic aortic aneurysms and dissections (TAAD) has expanded dramatically. This has not only led to a better understanding of the pathogenesis of the disease but also in risk stratification and medical guidance of patients and their families. Strategies for molecular genetic testing have reached a hinge point with the introduction of high throughput techniques based on Next Generation Sequencing (NGS) in routine diagnostics. It is therefore extremely important that clinicians in the field know the indications and limitations of molecular genetic testing. These will be reviewed in this manuscript.