scholarly journals A functional variant of SMAD4 enhances macrophage recruitment and inflammatory response via TGF-β signal activation in Thoracic aortic aneurysm and dissection

Aging ◽  
2018 ◽  
Vol 10 (12) ◽  
pp. 3683-3701 ◽  
Author(s):  
Ying Wang ◽  
Pei Yin ◽  
Yi-Huan Chen ◽  
Yun-Sheng Yu ◽  
Wen-Xue Ye ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Inflammatory Response ◽  
Thoracic Aortic Aneurysm ◽  
Macrophage Recruitment ◽  
Functional Variant ◽  
Aortic Aneurysm And Dissection ◽  
Signal Activation

scholarly journals A post mortem assessment of a 25-year-old man with ascending aortic dissection and a novel MYLK variant

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Katelyn Hodge ◽  
Katherine G. Spoonamore ◽  
Christopher B. Griffith ◽  
David D. Weaver ◽  
Patricia B.S. Celestino-Soper ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Aortic Aneurysm ◽  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Aortic Rupture ◽  
Clinical Consequence ◽  
Post Mortem ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Aortic Aneurysm And Dissection

We report on the process of <em>post mortem</em> evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to aortic rupture. Following the negative clinical testing of a 12- gene thoracic aortic aneurysm and dissection panel, research testing revealed a novel c.5732A&gt;T (p.E1911V) variant in exon 34 of the MYLK gene (NM_053025). Two likely pathogenic variants in this gene have been reported previously in individuals with familial thoracic aortic aneurysm and dissection. Given the unclear clinical consequence of the variant found in our proband, we have classified this change as a variant of uncertain significance. In addition to discussing the complexity involved in variant interpretation, we recognize the need for additional research for more accurate <em>MYLK</em> interpretation. Finally, we comment on the unique challenges of <em>post mortem</em> genetic testing.

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

2013 ◽  
Vol 165 (3) ◽  
pp. 584-587 ◽  
Author(s):  
Marjolijn Renard ◽  
Bert Callewaert ◽  
Fransiska Malfait ◽  
Laurence Campens ◽  
Saba Sharif ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Aortic Aneurysm ◽  
Mitral Valve Disease ◽  
Thoracic Aortic Aneurysm ◽  
Valve Disease ◽  
Aortic Aneurysm And Dissection

scholarly journals Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications

Aorta ◽  
2019 ◽  
Vol 07 (04) ◽  
pp. 099-107 ◽  
Author(s):  
Thais Faggion Vinholo ◽  
Adam J. Brownstein ◽  
Bulat A. Ziganshin ◽  
Mohammad A. Zafar ◽  
Helena Kuivaniemi ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Natural History ◽  
Molecular Genetics ◽  
Thoracic Aortic Aneurysm ◽  
Surgical Intervention ◽  
Pathogenic Mutation ◽  
Clinical Implications ◽  
Aortic Aneurysm And Dissection

AbstractThoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention. Molecular genetics will continue to bolster this burgeoning catalog of culprit genes, enabling the provision of personalized aortic care.

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