scholarly journals Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications

Aorta ◽  
2018 ◽  
Vol 06 (01) ◽  
pp. 013-020 ◽  
Author(s):  
Adam Brownstein ◽  
Valentyna Kostiuk ◽  
Bulat Ziganshin ◽  
Mohammad Zafar ◽  
Helena Kuivaniemi ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Aortic Aneurysm ◽  
General Population ◽  
Thoracic Aortic Aneurysm ◽  
Pathogenic Mutation ◽  
Aortic Aneurysms ◽  
Clinical Implications ◽  
Thoracic Aortic Aneurysms ◽  
Exponential Increase ◽  
Aortic Aneurysm And Dissection

AbstractThoracic aortic aneurysms, with an estimated prevalence in the general population of 1%, are potentially lethal, via rupture or dissection. Over the prior two decades, there has been an exponential increase in our understanding of the genetics of thoracic aortic aneurysm and/or dissection (TAAD). To date, 30 genes have been shown to be associated with the development of TAAD and ∼30% of individuals with nonsyndromic familial TAAD have a pathogenic mutation in one of these genes. This review represents the authors' yearly update summarizing the genes associated with TAAD, including implications for the surgical treatment of TAAD. Molecular genetics will continue to revolutionize the approach to patients afflicted with this devastating disease, permitting the application of genetically personalized aortic care.

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.

scholarly journals Systemic Inflammatory Response and Severe Thrombocytopenia after Endovascular Thoracic Aortic Aneurysm Repair

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Valentina Silvestrin ◽  
Stefano Bonvini ◽  
Michele Antonello ◽  
Franco Grego ◽  
Roberto Vettor ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Inflammatory Response ◽  
Endovascular Repair ◽  
Thoracic Aortic Aneurysm ◽  
Systemic Inflammatory Response ◽  
Aortic Aneurysms ◽  
Severe Thrombocytopenia ◽  
Laboratory Findings ◽  
Thoracic Aortic Aneurysms ◽  
Beneficial Effects

After Endovascular repair of thoracic aortic aneurysm, a systemic inflammatory response, named postimplantation syndrome, can develop. This syndrome is characterized by fever, leukocytosis, and elevated CRP plasma levels and its pathogenetic mechanisms are still unknown. Although this syndrome generally resolves within few days, some patients develop a persisting severe inflammatory reaction leading to mild or severe complications. Here we describe the case of a male patient who developed postimplantation inflammatory syndrome and severe thrombocytopenia after endovascular repair of thoracic aortic aneurysm. Treatment with prednisone (50 mg/bid) for two weeks did not improve the clinical and laboratory findings. We utilized danazol, a weak androgen that has been shown to be effective in the treatment of immune and idiopathic thrombocytopenic purpura, and after 12 days of treatment with danazol (200 mg/bid), the patient improved progressively and platelet number increased up to 53,000/μL. Patients undergoing endovascular repair of thoracic aortic aneurysm should be carefully monitored for the development of postimplantation syndrome. This clinical condition is relatively common after the endovascular repair of aortic aneurysm but is rarely observed after endovascular repair of thoracic aortic aneurysms. The different known therapeutical approaches are still empiric, with reported beneficial effects with the use of NSAID, corticosteroids, and danazol.

Total endovascular repair of a mycotic thoracic aortic aneurysm in a patient with an aberrant right subclavian artery

2020 ◽  
Author(s):  
Kosuke Nakamae ◽  
Takashi Azuma ◽  
Yoshihiko Yokoi ◽  
Hiroshi Niinami
Keyword(s):  
Computed Tomography ◽  
Aortic Aneurysm ◽  
Subclavian Artery ◽  
Endovascular Repair ◽  
Thoracic Aortic Aneurysm ◽  
Aortic Aneurysms ◽  
Aberrant Right Subclavian Artery ◽  
Anatomical Feature ◽  
Thoracic Aortic Aneurysms ◽  
Arterial Anomaly

Abstract An aberrant right subclavian artery (ARSA) is a rare arterial anomaly. Although a few cases of total endovascular repair for the ARSA aneurysm have been previously reported, anatomical limitations and the possibility of endoleaks remained. In this case, we created 4 holes on the stent graft for each cervical branch, with reference to the preoperative computed tomography findings. This approach might enable us to repair all types of thoracic aortic aneurysms with ARSA with each anatomical feature.

scholarly journals Statins for Patients Undergoing Thoracic Aortic Aneurysm Repair Surgery: What to Do?

Aorta ◽  
2021 ◽  
Vol 09 (04) ◽  
pp. 169-170
Author(s):  
Katherine M. Klein ◽  
Ion S. Jovin
Keyword(s):  
Aortic Aneurysm ◽  
Thoracic Aortic Aneurysm ◽  
Aortic Aneurysms ◽  
Thoracic Aortic Aneurysms ◽  
Improved Outcomes ◽  
Aneurysm Repair ◽  
Aortic Aneurysm Repair

AbstractStatins may be associated with improved outcomes in patient with thoracic aortic aneurysms but there is little data on the role of statins in patients who have undergone thoracic aortic aneurysm repair.

Staged Repair of a Ruptured Thoracic Aortic Aneurysm Having an Aorto-Parenchymal Fistula

2017 ◽  
Vol 12 (5) ◽  
pp. e13-e15 ◽  
Author(s):  
Akihiro Yoshitake ◽  
Kazuma Okamoto ◽  
Mio Kasai ◽  
Hideyuki Shimizu
Keyword(s):  
Aortic Aneurysm ◽  
Thoracic Aortic Aneurysm ◽  
Thoracic Endovascular Aortic Repair ◽  
Aortic Aneurysms ◽  
Treatment Results ◽  
Term Survival ◽  
Thoracic Aortic Aneurysms ◽  
Second Stage ◽  
Life Threatening

Ruptured thoracic aortic aneurysms, having aorto-bronchial or pulmonary parenchymal fistulations, are life-threatening conditions, and current surgical treatment results are not satisfactory. Herein, we describe a 69-year-old man with a ruptured thoracic aortic aneurysm and aorto-pulmonary parenchymal fistulation that was successfully treated using a staged repair. The first stage involved an emergency thoracic endovascular aortic repair for salvage and the second stage involved radical pulmonary parenchymal repair with removal of the stent graft and aortic reconstruction for long-term survival.

Diseases of the Aorta

2018 ◽  
Author(s):  
Anna M Booher ◽  
Kim A Eagle
Keyword(s):  
Aortic Dissection ◽  
Thoracic Aortic Aneurysm ◽  
Clinical Presentation ◽  
Abdominal Aortic Aneurysms ◽  
Aortic Aneurysms ◽  
Type B ◽  
Thoracic Aortic Aneurysms ◽  
Computed Tomographic ◽  
Abdominal Aortic ◽  
Acute Aortic Syndromes

This review covers the major presentations affecting the aorta: aortic aneurysms (abdominal aortic aneurysms and thoracic aortic aneurysms), acute aortic syndromes (including aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer), other nonacute aortic processes, and traumatic disease of the aorta. The section on abdominal aortic aneurysms covers screening, clinical presentation, diagnostic evaluation, management to reduce the risk of aneurysm rupture, open surgical treatment and endovascular aortic repair, and the role of medical therapy. The section on thoracic aortic aneurysms also covers pathophysiology, etiology, and inherited and inflammatory conditions. Aortic dissections affect either the ascending aorta (type A) or the descending aorta (type B) and may be classified as acute or chronic. The discussion of aortic dissection describes the clinical presentation, diagnostic steps and decisions, and treatment for both type A and type B dissections. The figures include two algorithms: a potential management strategy for patients with thoracic aortic aneurysm and a logical procedure for the evaluation and treatment of a suspected aortic dissection. Figures also include illustrations, computed tomographic images, and echocardiograms of various aortic presentations. Tables list normal aortic dimensions by computed tomographic angiography and echocardiography, etiology and associated factors in diseases of the aorta, revised Ghent criteria for the diagnosis of Marfan syndrome, size criteria for elective surgical intervention in thoracic aortic aneurysm, and independent predictors of in-hospital death. Also included is a follow-up imaging timeline for acute aortic syndromes. This review contains 9 figures, 6 tables, and 132 references.

Thoracic Aortic Aneurysm Repair with Endovascular Stent-Grafts

1997 ◽  
Vol 2 (2) ◽  
pp. 98-103 ◽  
Author(s):  
Charles P Semba ◽  
R Scott Mitchell ◽  
D Craig Miller ◽  
Noriyuki Kato ◽  
Stephen T Kee ◽  
...  
Keyword(s):  
High Risk ◽  
Aortic Aneurysm ◽  
Stent Graft ◽  
Aortic Aneurysms ◽  
Stent Grafts ◽  
Thoracic Aortic Aneurysms ◽  
Risk Patients ◽  
Aneurysm Repair ◽  
Aortic Aneurysm Repair ◽  
Endoluminal Stent

The purpose of the study was to describe the clinical experience in using endoluminal stent-grafts for the treatment of thoracic aortic aneurysms in high-risk patients. Patients with aneurysms of the descending thoracic aorta who were considered high surgical risks underwent evaluation for endoluminal repair. The prosthesis was constructed from Z stents covered with polyester fabric using dimensions based upon preprocedural computed tomography scans and angiography. Through a femoral arteriotomy or left retroperitoneal flank incision, a 22–24 Fr delivery catheter was inserted and advanced through the aorta to the target site under fluoroscopic guidance in the operating suite. The stent-graft prosthesis was deployed at the site of the aneurysm. 44 patients (36 male, 8 female; mean age 36 years) underwent stent-graft repair for thoracic aneurysms (mean diameter 6.3 cm). The deployment was technically successful in all cases, with complete aneurysm thrombosis in 88%. The 30-day perioperative mortality rate was 6.8% and 35-month actuarial survival was 82%. There were no cases of stent migration, surgical conversion or intraprocedural death. Paraplegia occurred in two patients who underwent simultaneous surgical infrarenal aortic aneurysm repair immediately followed by stent-graft placement for a coexisting thoracic aneurysm. The conclusion was that placement of endoluminal stent-grafts for repair of thoracic aortic aneurysms is technically feasible in high-risk patients in whom conventional surgery is contraindicated. Long-term studies are needed to determine protection against aneurysm rupture and patient survival.

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.

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