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Search Results (11)

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Keywords = mesenteric artery stenosis

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16 pages, 1360 KiB  
Systematic Review
Systematic Review and Meta-Analysis on the BeGraft Peripheral and BeGraft Peripheral PLUS Outcomes as Bridging Covered Stents in Fenestrated and Branched Endovascular Aortic Repair
by George Apostolidis, Petroula Nana, José I. Torrealba, Giuseppe Panuccio, Athanasios Katsargyris and Tilo Kölbel
J. Clin. Med. 2025, 14(15), 5221; https://doi.org/10.3390/jcm14155221 - 23 Jul 2025
Viewed by 215
Abstract
Background/Objective: Bridging stent optimal choice in fenestrated and branched endovascular aortic repair (f/bEVAR) is under investigation. This systematic review and meta-analysis studied the outcomes of the BeGraft peripheral and peripheral PLUS as bridging stents in f/bEVAR. Methods: The methodology was pre-registered [...] Read more.
Background/Objective: Bridging stent optimal choice in fenestrated and branched endovascular aortic repair (f/bEVAR) is under investigation. This systematic review and meta-analysis studied the outcomes of the BeGraft peripheral and peripheral PLUS as bridging stents in f/bEVAR. Methods: The methodology was pre-registered to the PROSPERO (CRD420251007695). Following the PRISMA guidelines and PICO model, the PubMed, Cochrane and Embase databases were searched for observational studies and randomized control trials, in English, from 2015 to 2025, reporting on f/bEVAR patients using the second-generation BeGraft peripheral or the BeGraft peripheral PLUS balloon expandable covered stent (BECS; Bentley InnoMed, Hechingen, Germany) for bridging. The ROBINS-I assessed the risk of bias and GRADE the quality of evidence. Target vessel technical success, occlusion/stenosis, endoleak Ic/IIIc, reintervention and instability during follow-up were primary outcomes, assessed using proportional meta-analysis. Results: Among 1266 studies, eight were included (1986 target vessels; 1791 bridged via BeGraft); all retrospective, except one. The ROBINS-I showed that seven were at serious risk of bias. According to GRADE, the quality of evidence was “very low” for primary outcomes. Target vessel technical success was 99% (95% CI 98–100%; I2 = 12%). The mean follow-up was 20.2 months. Target-vessel instability was 3% (95% CI 2–5%; I2 = 44%), occlusion/stenosis was 1% (95% CI 1–4%; I2 = 8%) and endoleak Ic/IIIc was 1% (95% CI 0–3%; I2 = 0%). The estimated target-vessel reintervention was 2% (95% CI 2–4%; I2 = 12%). Celiac trunk, superior mesenteric and renal artery instability were 1% (95% CI 0–16%; I2 = 0%;), 1% (95% CI 0–5%; I2 = 14%) and 4% (95% CI 2–7%; I2 = 40%), respectively. Conclusions: The BeGraft peripheral and peripheral PLUS BECS performed with high technical success and low instability when used for bridging in f/bEVAR. Cautious interpretation is required due to the very low quality of evidence. Full article
(This article belongs to the Special Issue Advances in Vascular and Endovascular Surgery: Second Edition)
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10 pages, 12686 KiB  
Article
Title: Is Celiac Trunk Revascularization Necessary After High-Flow Pancreaticoduodenal Arterial Arcades Aneurysm Retrograde Embolization?
by Mohamed Salim Jazzar, Hicham Kobeiter, Mario Ghosn, Raphael Amar, Youssef Zaarour, Athena Galletto Pregliasco, Pascal Desgranges, Vania Tacher, Mostafa El Hajjam and Haytham Derbel
J. Clin. Med. 2024, 13(23), 7063; https://doi.org/10.3390/jcm13237063 - 22 Nov 2024
Cited by 1 | Viewed by 1580
Abstract
Background and Objective: High-flow pancreaticoduodenal artery (PDA) aneurysms secondary to celiac trunk occlusion or stenosis have a high risk of rupture. Embolization offers a less invasive alternative to surgery. We evaluated the effectiveness and safety of retrograde embolization via the superior mesenteric artery [...] Read more.
Background and Objective: High-flow pancreaticoduodenal artery (PDA) aneurysms secondary to celiac trunk occlusion or stenosis have a high risk of rupture. Embolization offers a less invasive alternative to surgery. We evaluated the effectiveness and safety of retrograde embolization via the superior mesenteric artery of high-flow PDA aneurysms without celiac trunk revascularization. Methods: This retrospective bicentric study included patients who underwent embolization of high-flow PDA aneurysms due to significant celiac trunk stenosis or occlusion. All patients underwent pre-interventional dynamic contrast-enhanced computed tomography. Retrograde embolization was performed using microcoils and/or liquid agents without celiac trunk revascularization. Follow up involved clinical and radiological assessment at one month. Technical and clinical success were evaluated, and complications were categorized as minor or major. Results: Twenty-three patients (mean age 65 ± 14 years; 52% male) were included. Emergency embolization was required in 12 patients (52%). The technical success rate was 100%. Patients were monitored for a median of 16 months. Clinical success was 87%. No hemorrhagic recurrences were observed. Minor complications occurred in two cases. One major complication involved splenic infarction due to glue migration, requiring splenectomy and intensive unit care admission. Conclusions: Retrograde embolization of high-flow PDA aneurysms is effective and safe without needing celiac trunk revascularization. Full article
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9 pages, 5581 KiB  
Article
Visceral Artery Aneurysms in the Presence of Upstream Stenoses
by Amun Hofmann, Philipp Schuch, Franz Berger, Fadi Taher and Afshin Assadian
J. Clin. Med. 2024, 13(11), 3170; https://doi.org/10.3390/jcm13113170 - 28 May 2024
Cited by 2 | Viewed by 2566
Abstract
Background: Sutton–Kadir syndrome describes a rare pathology that commonly includes an aneurysm of the inferior pancreaticoduodenal artery in combination with a celiac trunk stenosis or occlusion, often caused by median arcuate ligament compression. Several therapeutic approaches exist including open surgical, endovascular, and [...] Read more.
Background: Sutton–Kadir syndrome describes a rare pathology that commonly includes an aneurysm of the inferior pancreaticoduodenal artery in combination with a celiac trunk stenosis or occlusion, often caused by median arcuate ligament compression. Several therapeutic approaches exist including open surgical, endovascular, and hybrid treatments. Other combinations of visceral artery aneurysms and upstream stenoses exist but the cumulative body of evidence on these combinations is weak due to their rarity. Methods: A retrospective analysis of patient data from a single center was carried out. Electronic patient records were filtered for keywords including “visceral aneurysm”, “Sutton–Kadir”, and “median arcuate ligament”. Imaging studies were re-examined by two blinded vascular surgeons with a third vascular surgeon as a referee in case of diverging results. Results: Sixteen patients had a visceral artery aneurysm with an upstream stenosis. All cases had a celiac trunk obstruction while one patient also had a concomitant superior mesenteric artery stenosis. Both median arcuate ligament compression and atherosclerotic lesions were identified. The location of the aneurysms varied even though the inferior pancreaticoduodenal artery was most frequently affected. A classification system based on the different combinations of stenoses and aneurysms is presented and introduced as a new pathologic entity: visceral artery aneurysm in the presence of upstream stenosis (VAPUS). Conclusions: The concomitant presence of visceral artery aneurysms, especially in the pancreaticoduodenal arteries, and blood flow impairment of the celiac axis or superior mesenteric artery is a rare pathology. The proposed VAPUS classification system offers an accessible and transparent route to the precise localization of the affected vessels. Full article
(This article belongs to the Special Issue "Visceral Aneurysm" in 2022: Recent Advances and Treatment)
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11 pages, 1212 KiB  
Case Report
Isolated Intramural Hematoma of Superior Mesenteric Artery: Case Reports and a Review of Literature
by Marta Ascione, Rocco Cangiano, Alireza Mohseni, Andrea Molinari, Antonio Marzano, Alessia Di Girolamo, Luca Di Marzo and Wassim Mansour
Diagnostics 2023, 13(23), 3581; https://doi.org/10.3390/diagnostics13233581 - 1 Dec 2023
Viewed by 1855
Abstract
(1) Background: Spontaneous isolated intramural hematoma of the superior mesenteric artery (SIHSMA) is a rare entity often considered as a subset of spontaneous isolated dissection of the superior mesenteric artery (SIDSMA). It is characterized by a completely thrombosed false lumen with or without [...] Read more.
(1) Background: Spontaneous isolated intramural hematoma of the superior mesenteric artery (SIHSMA) is a rare entity often considered as a subset of spontaneous isolated dissection of the superior mesenteric artery (SIDSMA). It is characterized by a completely thrombosed false lumen with or without an ulcer-like projection with computed tomography (CT) imaging. The recent literature describes few reports with a relatively short-term follow-up. The natural course, prognosis, and treatment options for SIHSMA still lack consensus. We present two cases of acute abdominal pain in a young man due to IMH of the superior mesenteric artery with an extensive literature review. (2) Case report: A 46-year-old male patient was submitted to an urgent CTA for acute abdominal pain, showing the presence of an isolated dissection of the superior mesenteric artery, determining significant stenosis of the vessel with collateral vessel patency. The patient referred to a recent COVID-19 infection, whose course was paucisymptomatic. He was conservatively treated with antiplatelet therapy and corticosteroid treatments, and, after a few days, the symptomatology completely regressed; also, the 2-month-control CTA showed complete IMH regression and the absence of any signs of residual stenosis. The second patient was a 61-year-old male patient who was submitted to an urgent CTA for acute abdominal pain, showing the presence of an isolated dissection of the superior mesenteric artery, not determining significant vessel stenosis. He was conservatively treated with antiplatelet therapy and corticosteroid treatment, and after a few days, the symptomatology completely regressed and the radiological control showed complete dissection regression. (3) Conclusion: SISHSMA is a rare entity of vascular pathology, and conservative management represents the best medical strategy. We propose corticosteroid treatment as one of the most appropriate tools in the conservative treatment of SISHSMA. Full article
(This article belongs to the Special Issue Recent Advances in the Diagnosis and Treatment of Vascular Diseases)
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19 pages, 646 KiB  
Review
Advancements in Treatment Strategies for Chronic Mesenteric Ischemia: A Comprehensive Review
by Genti Xhepa, Andrea Vanzulli, Lucilla Violetta Sciacqua, Agostino Inzerillo, Pierre Faerber, Anna Maria Ierardi, Gianpaolo Carrafiello, Filippo Del Grande and Alexis Ricoeur
J. Clin. Med. 2023, 12(22), 7112; https://doi.org/10.3390/jcm12227112 - 15 Nov 2023
Cited by 5 | Viewed by 6712
Abstract
Chronic mesenteric ischemia (CMI) arises from the inability to achieve adequate intestinal blood flow after meals, leading to an imbalance between oxygen and metabolite supply and demand. The true incidence of CMI remains uncertain. However, the occurrence of mesenteric artery occlusive disease (MAOD) [...] Read more.
Chronic mesenteric ischemia (CMI) arises from the inability to achieve adequate intestinal blood flow after meals, leading to an imbalance between oxygen and metabolite supply and demand. The true incidence of CMI remains uncertain. However, the occurrence of mesenteric artery occlusive disease (MAOD) is relatively common among the elderly population. Delays in diagnosing CMI can often be attributed to several factors, including the variability in patient symptoms and the range of potential causes for chronic abdominal pain with weight loss. Mikkelson pioneered the introduction of a surgical treatment for occlusive lesions of the superior mesenteric artery (SMA) in 1957. The inaugural performance of endovascular revascularization (ER) for visceral vessels took place in 1980. The literature has documented two types of endovascular revascularization (ER) methods: percutaneous transluminal angioplasty (PTA) and primary stenting (PMAS). Despite the limited quality of available evidence, the consensus among experts is strongly in favor of PMAS over PTA alone for the treatment of atherosclerotic mesenteric artery stenosis. There are several key areas of focus for chronic mesenteric ischemia (CMI) treatment. Randomized controlled trials comparing different stent types, such as covered stents versus bare metal stents, are needed to evaluate efficacy, patency rates, and long-term outcomes in CMI patients. Full article
(This article belongs to the Special Issue State of the Art in Invasive Vascular Interventions)
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9 pages, 1645 KiB  
Article
Subtotal Nephrectomy Associated with a High-Phosphate Diet in Rats Mimics the Development of Calcified Aortic Valve Disease Associated with Chronic Renal Failure
by Hind Messaoudi, Thomas Levesque, Nicolas Perzo, Elodie Berg, Guillaume Feugray, Anaïs Dumesnil, Valéry Brunel, Dominique Guerrot, Hélène Eltchaninoff, Vincent Richard, Saïd Kamel, Eric Durand, Youssef Bennis and Jérémy Bellien
J. Clin. Med. 2023, 12(4), 1539; https://doi.org/10.3390/jcm12041539 - 15 Feb 2023
Cited by 5 | Viewed by 2343
Abstract
Introduction. This study addressed the hypothesis that subtotal nephrectomy associated with a high-phosphorus diet (5/6Nx + P) in rats represents a suitable animal model to mimic the cardiovascular consequences of chronic kidney disease (CKD) including calcified aortic valve disease (CAVD). Indeed, the latter [...] Read more.
Introduction. This study addressed the hypothesis that subtotal nephrectomy associated with a high-phosphorus diet (5/6Nx + P) in rats represents a suitable animal model to mimic the cardiovascular consequences of chronic kidney disease (CKD) including calcified aortic valve disease (CAVD). Indeed, the latter contributes to the high morbidity and mortality of CKD patients and sorely lacks preclinical models for pathophysiological and pharmacological studies. Methods. Renal and cardiovascular function and structure were compared between sham-operated and 5/6 Nx rats + P 10 to 12 weeks after surgery. Results. As expected, 11 weeks after surgery, 5/6Nx + P rats developed CKD as demonstrated by their increase in plasma creatinine and urea nitrogen and decrease in glomerular filtration rate, estimated by using fluorescein-isothiocyanate-labelled sinistrin, anemia, polyuria, and polydipsia compared to sham-operated animals on a normal-phosphorus diet. At the vascular level, 5/6Nx + P rats had an increase in the calcium content of the aorta; a decrease in mesenteric artery dilatation in response to a stepwise increase in flow, illustrating the vascular dysfunction; and an increase in blood pressure. Moreover, immunohistology showed a marked deposition of hydroxyapatite crystals in the aortic valve of 5/6Nx + P rats. Echocardiography demonstrated that this was associated with a decrease in aortic valve cusp separation and an increase in aortic valve mean pressure gradient and in peak aortic valve velocity. Left-ventricular diastolic and systolic dysfunction as well as fibrosis were also present in 5/6Nx + P rats. Conclusion. This study demonstrates that 5/6Nx + P recapitulates the cardiovascular consequences observed in humans with CKD. In particular, the initiation of CAVD was shown, highlighting the interest of this animal model to study the mechanisms involved in the development of aortic stenosis and test new therapeutic strategies at an early stage of the disease. Full article
(This article belongs to the Special Issue Valvular Heart Disease: From Basic to Clinical Advances)
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14 pages, 3199 KiB  
Article
Development of a Novel Scoring Model to Estimate the Severity Grade of Mesenteric Artery Stenosis
by Safwan Omran, Frank Konietschke, Verena Mueller, Maximilian de Bucourt, Jan Paul Frese and Andreas Greiner
J. Clin. Med. 2022, 11(24), 7420; https://doi.org/10.3390/jcm11247420 - 14 Dec 2022
Cited by 6 | Viewed by 2533
Abstract
Objective: This study aimed to derive a new scoring model from estimating the severity grade of mesenteric artery stenosis. We sought to analyze the relationship between the new scoring model and the development, treatment, and mortality of chronic mesenteric ischemia (CMI). Methods: This [...] Read more.
Objective: This study aimed to derive a new scoring model from estimating the severity grade of mesenteric artery stenosis. We sought to analyze the relationship between the new scoring model and the development, treatment, and mortality of chronic mesenteric ischemia (CMI). Methods: This retrospective study included 242 patients (128 (53%) women and 114 (47%) men) with suspected CMI from January 2011 to December 2020. A weighted sum six-point score (CSI-score; the celiac artery is abbreviated by “C”, superior mesenteric artery by “S”, and inferior mesenteric artery by “I”) based on the number of affected vessels and the extent and grade of the stenosis or occlusion of the involved visceral arteries was derived by maximizing the area under the ROC curve. The calculated CSI-score ranged from 0 to 22. The patients were divided according to the best cut-off point into low-score (CSI-score < 8) and high-score (CSI-score ≥ 8) groups. Results: The area under the receiver operating characteristic curve (AUC) of the CSI-score was 0.86 (95% CI, 0.82–0.91). The best cut-off point of “8” represented the highest value of Youden’s index (0.58) with a sensitivity of 87% and specificity of 72%. The cohort was divided according to the cut-off point into a low-score group (n = 100 patients, 41%) and high-score group (n = 142 patients, 59%) and according to the clinical presentation into a CMI group (n = 109 patients, 45%) and non-CMI group (n = 133 patients, 55%). The median CSI-score for all patients was 10 (range: 0 -22). High-scoring patients showed statistically significant higher rates of coronary artery disease (54% vs. 36%, p = 0.007), chronic renal insufficiency (50% vs. 30%, p = 0.002), and peripheral arterial disease (57% vs. 16%, p < 0.001). A total of 109 (45%) patients underwent invasive treatment of the visceral arteries and were more often in the high-score group (69% vs. 11%, p < 0.001). Of those, 79 (72%) patients underwent primary endovascular treatment, and 44 (40%) patients underwent primary open surgery or open conversion after endovascular treatment. Sixteen (7%) patients died during the follow-up, with a statistically significant difference between high- and low-scoring patients (9% vs. 0%, p = 0.008). The score stratification showed that the percentage of patients treated with endovascular and open surgical methods, the recurrence of the stenosis or failure of the endovascular treatment, the need for a bypass procedure, and the mortality rates significantly increased in the subgroups. The CSI-score demonstrated an excellent ability to discriminate between patients who needed treatment and those who did not, with an AUC of 0.87 (95% CI, 0.82–0.91). Additionally, the CSI-score’s ability to predict the patients’ mortality was moderate, with an AUC of 0.73 (95% CI, 0.62–0.83). Conclusions: The new scoring model can estimate the severity grade of the stenosis of the mesenteric arteries. Our study showed a strong association of the score with the presence of chronic mesenteric ischemia, the need for treatment, the need for open surgery, and mortality. Full article
(This article belongs to the Section Vascular Medicine)
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8 pages, 1415 KiB  
Case Report
Mesenteric Ischemia in a Patient with Essential Thrombocythemia: Does COVID-19 Play Any Role? A Case Report and Overview of the Literature
by Mihail Cotorogea-Simion, Sebastian Isac, Alina Tita, Letitia Toma, Laura Elena Iliescu, Adriana Mercan-Stanciu, Teodora Isac, Anca Bobirca, Florin Bobirca, Cristian Cobilinschi, Maria Daniela Tanasescu and Gabriela Droc
Medicina 2022, 58(9), 1147; https://doi.org/10.3390/medicina58091147 - 24 Aug 2022
Viewed by 2717
Abstract
Introduction: Chronic mesenteric ischemia is a rare entity with non-specific symptomatology; combined with rare etiologies, it could lead to unwarranted surgical indication. Case report: We report the case of an 85-year-old woman, with a history of hypertension, persistent thrombocytosis, atherosclerosis, and recent minor [...] Read more.
Introduction: Chronic mesenteric ischemia is a rare entity with non-specific symptomatology; combined with rare etiologies, it could lead to unwarranted surgical indication. Case report: We report the case of an 85-year-old woman, with a history of hypertension, persistent thrombocytosis, atherosclerosis, and recent minor COVID-19 infection, presenting to the hospital with postprandial abdominal pain and nonspecific clinical examination findings; upon abdominal CT, superior mesenteric artery circumferential thrombosis was revealed. A bone marrow biopsy was performed due to suspected essential thrombocythemia, confirming the diagnosis. An endovascular approach was chosen as therapy option and a stent was placed in the occluded area. Dual antiplatelet and cytoreductive therapies were initiated after the intervention. Clinical course was excellent, with no residual stenosis 1 month after stenting. Conclusions: The therapeutic strategy in elderly patients with exacerbated chronic mesenteric ischemia requires an interdisciplinary approach in solving both the exacerbation and the underlying conditions in order to prevent further thrombotic events. Although the patient presented a thrombotic state, other specific risk factors such as COVID-19 related-coagulopathy and essential thrombocythemia should be considered. Full article
(This article belongs to the Special Issue Advances in Cardiothoracic and Vascular Surgery in the COVID-19 Era)
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7 pages, 1320 KiB  
Case Report
Renal Involvement in Linear Nevus Sebaceous Syndrome—An Underrecognized Feature
by Chonin Kuok and Kwaiyu Chan
Pediatr. Rep. 2021, 13(2), 203-209; https://doi.org/10.3390/pediatric13020028 - 1 May 2021
Cited by 2 | Viewed by 4795
Abstract
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-year-old girl with LNSS who had concomitant cystic kidney [...] Read more.
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-year-old girl with LNSS who had concomitant cystic kidney disease and diffuse aortopathy with bilateral renal artery stenosis, leading to hypertension requiring oral anti-hypertensive medications. The girl presented with chorioretinal coloboma and multiple nevus sebaceous at birth. She had aortic coarctation and received surgical repair at one week of life. She had persistent hypertension during her follow-up. Further investigations were performed to look for causes of hypertension apart from possible re-coarctation. Her magnetic resonance angiogram revealed diffuse aortopathy, which extended from the aortic arch to the abdominal aorta. Branches of the aorta, including the celiac trunk, superior mesenteric arteries, and renal arteries, were also narrowed. Multiple renal cysts were also identified in her right kidney. Interventional angioplasty over the renal arteries was not feasible due to diffuse narrowing of the aorta, especially at the origins of renal arteries. The blood pressure was controlled with oral anti-hypertensive medications. Our case illustrated that pediatricians should be aware of the possible renal involvements in LNSS, which impose a significant impact on the management and long-term prognosis of these patients. Full article
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13 pages, 1899 KiB  
Review
Intervention in Takayasu Aortitis: When, Where and How?
by Andrew Porter and Justin C. Mason
Hearts 2020, 1(2), 62-74; https://doi.org/10.3390/hearts1020008 - 5 Aug 2020
Cited by 3 | Viewed by 3828
Abstract
Takayasu arteritis is a large vessel vasculitis which commonly affects the aorta and its major branches. Active arterial inflammation is characterised by the presence of T and B lymphocytes, natural killer cells, macrophages and occasional multinucleate giant cells. Uncontrolled vascular inflammation can progress [...] Read more.
Takayasu arteritis is a large vessel vasculitis which commonly affects the aorta and its major branches. Active arterial inflammation is characterised by the presence of T and B lymphocytes, natural killer cells, macrophages and occasional multinucleate giant cells. Uncontrolled vascular inflammation can progress to cause arterial stenosis, occlusion or aneurysmal dilatation. Medical treatment involves combination immunosuppression and more recently biologic therapies targeting TNF-α and IL-6. Due to the typical delays in diagnosis and accumulation of arterial injury, open and endovascular surgical intervention are important and potentially life-saving treatment options for Takayasu arteritis. Common indications for surgery include aortic coarctation and ascending aortic dilatation ± aortic valve regurgitation, renal artery stenosis, ischaemic heart disease, supra-aortic disease, mesenteric ischaemia, severe limb-threatening claudication and aneurysm repair. Surgical outcomes are markedly improved in patients with clinically inactive disease and those who receive adequate periprocedural immunosuppression. Decisions regarding surgical approaches are best made as part of a multi-disciplinary team. Full article
(This article belongs to the Special Issue Thoracic Aorta)
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13 pages, 881 KiB  
Review
Genomics of Fibromuscular Dysplasia
by Silvia Di Monaco, Adrien Georges, Jean-Philippe Lengelé, Miikka Vikkula and Alexandre Persu
Int. J. Mol. Sci. 2018, 19(5), 1526; https://doi.org/10.3390/ijms19051526 - 21 May 2018
Cited by 31 | Viewed by 7904
Abstract
Fibromuscular Dysplasia (FMD) is “an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries” (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The [...] Read more.
Fibromuscular Dysplasia (FMD) is “an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries” (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive. While familial cases are rare (<5%) in contemporary FMD registries, there is evidence in favour of the existence of multiple genetic factors involved in this vascular disease. Recent collaborative efforts allowed the identification of a first genetic locus associated with FMD. This intronic variant located in the phosphatase and actin regulator 1 gene (PHACTR1) may influence the transcription activity of the endothelin-1 gene (EDN1) located nearby on chromosome 6. Interestingly, the PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease. National and international registries of FMD patients, with deep and harmonised phenotypic and genetic characterisation, are expected to be instrumental to improve our understanding of the genetic basis and pathophysiology of this intriguing vascular disease. Full article
(This article belongs to the Special Issue Role of Genomics in the Management of Hypertension)
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