Multi-stage open surgical and endovascular treatment of progressive aortic degeneration in a patient with Marfan syndrome

Vascular ◽  
2020 ◽  
pp. 170853812095366
Author(s):  
Jason R Cook ◽  
Thomas J Desmarais ◽  
Jeffrey Jim
Keyword(s):  
Endovascular Treatment ◽  
Marfan Syndrome ◽  
Endovascular Procedures ◽  
Significant Risk ◽  
Connective Tissues ◽  
Unique Challenge ◽  
Multi Stage ◽  
Aortic Interventions

Aortic interventions in patients with underlying connective tissues disorders present a unique challenge. The inevitable degeneration of the native aorta can lead to the need for multiple staged interventions with significant risk of complications associated with reoperative aortic procedures. We present a challenging case of progressive aortic degeneration in a patient with Marfan syndrome treated with multi-staged open surgical and endovascular procedures.

Marfan Syndrome: Using genetic maps to lead the way to new diagnostics and treatments

2020 ◽  
Author(s):  
Ines Nannsen
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Genetic Maps ◽  
Diagnostic Tools ◽  
Chromosome 15 ◽  
Connective Tissues ◽  
Dna Mapping ◽  
Heritable Disorder ◽  
Biochemical Level ◽  
Compare And Contrast

Marfan Syndrome is a heritable disorder of connective tissue caused by a mutated extracellular matrix glycoprotein protein, affecting 1 in 5,000 people worldwide. This protein is responsible for support and elasticity meaning that people affected by this disorder manifest with weakened tendons, ligaments and other connective tissues. Patients exhibit a wide variety of symptoms including, scoliosis, abnormally slender digits, vision problems and enlarged blood vessels. Marfan’s follows an autosomal dominant pattern of inheritance and has a penetrance of 100%, meaning that anyone inheriting the gene will be affected by the disease. This study focuses on the developments in the field of DNA mapping and how these advancements have improved the diagnostic tools and treatments for this disease. After exploring the methodology of DNA mapping, the LOD scores for Marfan Syndrome are discussed and compared in order to conclude which chromosome carried the mutation; it was found that chromosome 15 carries. Additionally, the results compare and contrast different genetic markers and identifies a link between markers D15529 and D15545. Although this technology is fairly recent and has thus not been studied as extensively as traditional methods, the information gathered in this research illustrates the methodology of DNA mapping and how; by understanding the gene expression and mutation at a biochemical level, diagnostics and treatments for patients can be tailored specifically to the disease and not just management of the symptoms.

Common Maternal Genetic Syndromes II: Marfan Syndrome

2019 ◽  
Author(s):  
Ali Said Al-Beshri ◽  
Nathaniel H. Robin
Keyword(s):  
Genetic Testing ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Accurate Diagnosis ◽  
Genetic Syndromes ◽  
Connective Tissues ◽  
Ectopia Lentis ◽  
Surgical Interventions ◽  
Obstetric Management ◽  
Careful Physical Examination

Marfan syndrome is an autosomal dominant syndrome that affects various connective tissues including the aorta and skeletal system. It represent a major cause of aortic dissection in individuals with seemingly unremarkable past medical history, and is the most common cause of aortic dissection in pregnancy. Prompt and accurate diagnosis can be lifesaving. Careful physical examination and detailed personal and family history is vital for clinical evaluation. Genetic testing is often needed for accurate diagnosis but result interpretation might be challenging and genetic counseling is always required. Established guidelines can help navigate the challenges in obstetric management, which may include major surgical interventions during or after pregnancy. This review contains 6 figures, 4 tables, and 40 references. Keywords: Marfan syndrome, FBN1, aortic dissection, dilatation, connective tissue, ectopia lentis, pectus, systemic score, Ghent diagnostic criteria, genetic testing.

scholarly journals Endovascular Treatment for Type B Dissection in Marfan Syndrome: Is It Worthwhile?

2013 ◽  
Vol 95 (2) ◽  
pp. 737-749 ◽  
Author(s):  
Davide Pacini ◽  
Alessandro Parolari ◽  
Paolo Berretta ◽  
Roberto Di Bartolomeo ◽  
Francesco Alamanni ◽  
...  
Keyword(s):  
Endovascular Treatment ◽  
Marfan Syndrome ◽  
Type B ◽  
Type B Dissection

The endovascular management of splenic artery aneurysms and pseudoaneurysms

Vascular ◽  
2011 ◽  
Vol 19 (5) ◽  
pp. 257-261 ◽  
Author(s):  
Jia Xin ◽  
Liu Xiao-ping ◽  
Guo Wei ◽  
Xiong Jiang ◽  
Zhang Hong-peng ◽  
...  
Keyword(s):  
Endovascular Treatment ◽  
Splenic Artery ◽  
Endovascular Procedures ◽  
Endovascular Management ◽  
Total Procedure Time ◽  
The Mean ◽  
Postembolization Syndrome ◽  
Mid Term Results ◽  
Total Procedure

The purpose of this study was to evaluate outcomes of the endovascular treatment of splenic artery aneurysms (SAAs) and pseudoaneurysms (SAPAs). From April 2003 to December 2009, 12 patients (mean age 46.8 years, range 29–58) with SAAs ( n = 9) or SAPAs ( n = 3) underwent endovascular treatment. Four patients were asymptomatic and three had ruptured aneurysms. Lesions were in the proximal splenic artery ( n = 3), intermediate splenic artery ( n = 3) and distal splenic artery ( n = 6). Endovascular procedures included embolization by sac packing ( n = 5), sandwich occlusion of the splenic artery ( n = 4) or stent graft deployment ( n = 3). Computed tomography (CT) was done before the operation, 3 and 12 months after the operation, then yearly. Endovascular treatment was successful at the first attempt in all 12 (100%) patients, with complete angiographic exclusion of the aneurysm at the end of the operation. The mean amount of contrast medium used was 165 mL (range 100–230), and the mean total procedure time was 92 minutes (range 55–160). No major complications occurred. Postoperational CT scans showed splenic multisegmental infarcts in eight patients (66.7%, 8/12) and among them postembolization syndrome developed in six patients, manifesting as abdominal pain and fever. The mean follow-up was 32 months (range 9–51). No patient demonstrated gross evidence of aneurysm sac growth, and no significant decrease in aneurysm sac size postintervention was noted on follow-up. The endovascular management of SAAs and SAPAs is safe and effective and may induce less mortality than open surgery. Regardless of the etiology, endovascular treatment can provide excellent mid-term results.

scholarly journals Urgent Endovascular Treatment of Iliac Artery Pseudoaneurysm in Patient with Ehlers-Danlos Syndrome: A Case Report

2020 ◽  
Vol 8 (C) ◽  
pp. 156-160
Author(s):  
Aleksandar Gjoreski ◽  
Ivona Jovanoska ◽  
Gjorgi Dungevski ◽  
Nikola Lazovski ◽  
Menka Lazareska
Keyword(s):  
Endovascular Treatment ◽  
Iliac Artery ◽  
Significant Risk ◽  
Vascular Complications ◽  
High Morbidity ◽  
Ehlers Danlos Syndrome ◽  
Artery Pseudoaneurysm ◽  
Type Iv ◽  
The Right ◽  
Danlos Syndrome

BACKGROUND: Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder of connective tissue that is mainly associated with vascular maladies such as aneurysms, pseudoaneurysms, and dissections with or without spontaneous rupture. Historically, vascular complications in EDS IV have been treated conservatively whenever possible, due to the high morbidity and mortality after vascular interventions, whether open or endovascular. We present a case of a ruptured pseudoaneurysm of the right common iliac artery in a 18-year-old male, who was successfully treated by endovascular approach and later diagnosed with EDS type IV. CASE PRESENTATION: A 18-year-old male patient was admitted in ER with sharp pain in the right hypogastrium, hypotensive and with reduced blood parameters. Multiphasic modern computed tomography (MDCT) scan of abdomen and pelvis revealed massive ride sided pelvic and retroperitoneal hematoma. The presence of pseudoaneurysms on both common iliac arteries (CIA) was detected, with small ulcer on the right side and a focal dissection on the left side. An urgent endovascular repair of the ruptured pseudoaneurysm on the right CIA with covered stent was performed. Patient’s laboratory parameters and clinical status improved significantly within the next few days. CONCLUSIONS: Vascular repair in EDS-IV patients carries significant risk and should be indicated very carefully. Endovascular treatment for these patients is feasible and should be considered as an alternative to open surgery in some challenging cases as this one.

Common Maternal Genetic Syndromes II: Marfan Syndrome

2019 ◽  
Author(s):  
Ali Said Al-Beshri ◽  
Nathaniel H. Robin
Keyword(s):  
Genetic Testing ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Accurate Diagnosis ◽  
Genetic Syndromes ◽  
Connective Tissues ◽  
Ectopia Lentis ◽  
Surgical Interventions ◽  
Obstetric Management ◽  
Careful Physical Examination

Marfan syndrome is an autosomal dominant syndrome that affects various connective tissues including the aorta and skeletal system. It represent a major cause of aortic dissection in individuals with seemingly unremarkable past medical history, and is the most common cause of aortic dissection in pregnancy. Prompt and accurate diagnosis can be lifesaving. Careful physical examination and detailed personal and family history is vital for clinical evaluation. Genetic testing is often needed for accurate diagnosis but result interpretation might be challenging and genetic counseling is always required. Established guidelines can help navigate the challenges in obstetric management, which may include major surgical interventions during or after pregnancy. This review contains 6 figures, 4 tables, and 40 references. Keywords: Marfan syndrome, FBN1, aortic dissection, dilatation, connective tissue, ectopia lentis, pectus, systemic score, Ghent diagnostic criteria, genetic testing.

scholarly journals Cerebrovascular Complications After Upper Extremity Access for Complex Aortic Interventions: A Systematic Review and Meta-Analysis

2019 ◽  
Vol 43 (2) ◽  
pp. 186-195 ◽  
Author(s):  
Max M. Meertens ◽  
Charlotte C. Lemmens ◽  
Gustavo S. Oderich ◽  
Geert W. H. Schurink ◽  
Barend M. E. Mees
Keyword(s):  
Systematic Review ◽  
Endovascular Treatment ◽  
Upper Extremity ◽  
Meta Analysis ◽  
Aortic Aneurysms ◽  
Cochrane Library ◽  
Cerebrovascular Event ◽  
Cerebrovascular Complications ◽  
Increased Risk ◽  
Aortic Interventions

Abstract Purpose The purpose of this study was to review the risk of developing cerebrovascular complications from upper extremity access during endovascular treatment of complex aortic aneurysms. Methods A systematic review and meta-analysis were conducted according to the PRISMA guideline. An electronic search of the public domains Medline (PubMed), Embase (Ovid), Web of Science and Cochrane Library was performed to identify studies related to the treatment of aortic aneurysms involving upper extremity access. Meta-analysis was used to compare the rate of cerebrovascular event after left, right and bilateral upper extremity access. Results are presented as relative risk (RR) and 95% confidence intervals (CIs). Results Thirteen studies including 1276 patients with complex endovascular treatment of aortic aneurysms using upper extremity access were included in the systematic review. Left upper extremity access (UEA) was used in 1028 procedures, right access in 148 and bilateral access in 100 procedures. The rate of cerebrovascular complications for patients treated through left UEA was 1.7%, through right UEA 4% and through bilateral UEA 5%. In the meta-analysis, we included seven studies involving 645 patients treated with a left upper extremity access, 87 patients through a right and 100 patients through a bilateral upper extremity access. Patients, who underwent right-sided (RR 5.01, 95% CI 1.51–16.58, P = 0.008) or bilateral UEA (RR 4.57, 95% CI 1.23–17.04, P = 0.02), had a significantly increased risk of cerebrovascular events compared to those who had a left-sided approach. Conclusion Left upper extremity access is associated with a significantly lower rate of cerebrovascular complications as compared to right or bilateral upper extremity access.

scholarly journals Temporal pattern of aortic remodelling after endovascular treatment for chronic DeBakey IIIb dissection

2020 ◽  
Vol 31 (2) ◽  
pp. 232-238
Author(s):  
Tae-Hoon Kim ◽  
Suk-Won Song ◽  
Woon Heo ◽  
Kwang-Hun Lee ◽  
Kyung-Jong Yoo ◽  
...  
Keyword(s):  
Endovascular Treatment ◽  
Abdominal Aorta ◽  
Temporal Pattern ◽  
False Lumen ◽  
Significant Risk ◽  
Type A ◽  
Safe Procedure ◽  
Coeliac Trunk ◽  
Infrarenal Abdominal Aorta

Abstract OBJECTIVES Endovascular treatment has emerged as a safe procedure for treating chronic DeBakey IIIb dissection. The objective of this study was to investigate the mid-term outcome and temporal pattern of aortic remodelling after endovascular treatment for DeBakey IIIb dissection. METHODS From 2012 to 2017, 85 patients who underwent endovascular aortic repair for DeBakey IIIb dissection were enrolled. The temporal pattern of aortic remodelling in terms of false lumen (FL) thrombosis [level 1 (∼T7), level 2 (T7 ∼ coeliac axis) and level 3 (coeliac trunk ∼ aortic bifurcation)] and aortic diameter [mid-thoracic level (T7), coeliac axis and the largest infrarenal abdominal aorta] was investigated on serial follow-up computed tomography scan. RESULTS Eighty-five patients underwent endovascular treatment during the study period. Male sex was a significant risk factor for repetitive reintervention and segments 2 and 3 FL thrombosis. The preoperative FL diameter at T7 was significantly associated with FL diameter regression. The number of visceral vessels from the FL and residual DeBakey IIIb dissection after type A repair were significant factors for FL growth at the coeliac trunk and at the largest infrarenal abdominal aorta. The overall mortality was 3 (3.6%). CONCLUSIONS Endovascular treatment is a safe strategy in the management of DeBakey IIIb dissection. However, unfavourable aortic remodelling and repetitive reintervention were expected in male patients with a large number of visceral vessels from the FL and residual DeBakey IIIb dissection after type A repair. Endovascular treatment should be cautiously considered, and close follow-up is required for these patients.

scholarly journals Endovascular treatment of an arterioportal fistula following pancreaticoduodenectomy

2017 ◽  
Vol 99 (2) ◽  
pp. e94-e96
Author(s):  
JP Taylor ◽  
A Akinkuotu ◽  
MA Makary
Keyword(s):  
Portal Vein ◽  
Endovascular Treatment ◽  
Superior Mesenteric Artery ◽  
Mesenteric Artery ◽  
Rare Case ◽  
Endovascular Procedures ◽  
Arterioportal Fistula

We present a rare case of an arterioportal fistula that formed between the superior mesenteric artery and portal vein 30 days following a pancreaticoduodenectomy, which was successfully managed with endovascular procedures.

Endovascular Treatment of Complex Aneurysms at the Vertebrobasilar Junction With Flow-Diverting Stents

Neurosurgery ◽  
2013 ◽  
Vol 73 (3) ◽  
pp. 386-394 ◽  
Author(s):  
Stephan Meckel ◽  
William McAuliffe ◽  
David Fiorella ◽  
Christian A. Taschner ◽  
Constantine Phatouros ◽  
...  
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Endovascular Treatment ◽  
Significant Risk ◽  
Mass Effect ◽  
Complex Aneurysms ◽  
Brainstem Compression ◽  
Ischemic Complications ◽  
Vertebrobasilar Junction ◽  
Alternative Approaches

Abstract BACKGROUND: Large or giant complex vertebrobasilar junction aneurysms have a dismal natural history and are often challenging to treat with standard endovascular or neurosurgical techniques. OBJECTIVE: To report initial experience with endovascular treatment of these aneurysms using flow-diverting stents (FDS). METHODS: Ten patients with FDS treatment of complex vertebrobasilar junction aneurysms were collected from 4 large cerebrovascular centers. Clinical/angiographic presentation and outcome were retrospectively analyzed. RESULTS: Of 10 aneurysms, 7 presented with brainstem compression, 2 with ischemia, and 1 with subarachnoid hemorrhage, and 3 were recurrent after stent-assisted treatments. Eight were giant. Morphology was fusiform in 5, fusiform dissecting in 1, and multilobulated saccular in 4. Six were partially thrombosed. In addition to FDS (mean number of devices, 3.9; range, 1-9), contralateral vertebral artery sacrifice and adjunctive coiling were performed in 9 and 5 of the 10 patients, respectively. At follow-up, 5 of 10 were completely occluded, 4 showed minimal residual filling, and 1 was retreated with an additional FDS. Postinterventionally, worsening mass effect and ischemic complications were seen in 2 and 4 of 10, respectively. Clinical outcome was good in 6 (modified Rankin Scale score, 0-2). Four fatalities were related to sequelae of subarachnoid hemorrhage, late FDS thrombosis, progressive mass effect, and delayed intracranial hemorrhage. CONCLUSION: FDS may be used to treat complex vertebrobasilar junction aneurysms with overall good angiographic outcome. A combined reconstructive/deconstructive approach appears useful to avoid endoleaks. FDS strategies, like other endovascular and neurosurgical approaches to these lesions, are associated with significant risk and therefore should be reserved for those cases in which alternative approaches either are deemed unsafe or are likely to be ineffective.

Sign in / Sign up

Export Citation Format

Share Document