Abstract
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype–genotype correlations lead us towards more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD.
Highlights
Genetics of Heritable Thoracic AorticOver the last two decades, genetic developments have significantly improved our understanding of heritable thoracic aortic disease (HTAD)
Syndromic HTAD typically exhibits a multiorgan phenotype and is caused by genetic variants that are involved in the transforming growth factor-β (TGF-β) pathway and genes encoding extracellular matrix proteins [2]
Despite a greater frequency of surgery and type B aortic dissections in Marfan syndrome (MFS) patients harboring Haploinsufficient FBN1 variants (HI-FBN1) variants, all type A dissections that occurred at an aortic root diameter
Summary
Over the last two decades, genetic developments have significantly improved our understanding of heritable thoracic aortic disease (HTAD). The identification of new syndromes [1] and novel candidate genes [2] has changed the paradigm in the diagnostic evaluation of these patients. Specific genotype–phenotype correlations continue to emerge, promising a more precise and effective approach in the treatment of HTAD [3,4,5]. The goal of this review is to inform clinicians about the value and effect of genetics in the diagnosis, management, surveillance, risk stratification and familial evaluation of patients with HTAD. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations
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