A Systematic Approach to Marfan Syndrome and Hereditary Forms of Aortic Dilatation and Dissection

2009 ◽  
pp. 223-232
Author(s):  
Peter N. Robinson ◽  
Yskert von Kodolitsch
Keyword(s):  
Marfan Syndrome ◽  
Systematic Approach ◽  
Aortic Dilatation

Glutathione system participation in thoracic aneurysms from patients with Marfan syndrome

VASA ◽  
2017 ◽  
Vol 46 (3) ◽  
pp. 177-186 ◽  
Author(s):  
Alejandra María Zúñiga-Muñoz ◽  
Israel Pérez-Torres ◽  
Verónica Guarner-Lans ◽  
Elías Núñez-Garrido ◽  
Rodrigo Velázquez Espejel ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Marfan Syndrome ◽  
Aortic Aneurysms ◽  
Aortic Dilatation ◽  
Glutathione S Transferase ◽  
Reduced And Oxidized Glutathione ◽  
Total Antioxidant ◽  
Elevated Activity ◽  
Acute Dissection ◽  
Thoracic Aneurysms

Abstract. Background: Aortic dilatation in Marfan syndrome (MFS) is progressive. It is associated with oxidative stress and endothelial dysfunction that contribute to the early acute dissection of the vessel and can result in rupture of the aorta and sudden death. We evaluated the participation of the glutathione (GSH) system, which could be involved in the mechanisms that promote the formation and progression of the aortic aneurysms in MFS patients. Patients and methods: Aortic aneurysm tissue was obtained during chest surgery from eight control subjects and 14 MFS patients. Spectrophotometrical determination of activity of glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GR), lipid peroxidation (LPO) index, carbonylation, total antioxidant capacity (TAC), and concentration of reduced and oxidized glutathione (GSH and GSSG respectively), was performed in the homogenate from aortic aneurysm tissue. Results: LPO index, carbonylation, TGF-β1, and GR activity were increased in MFS patients (p < 0.04), while TAC, GSH/GSSG ratio, GPx, and GST activity were significantly decreased (p < 0.04). Conclusions: The depletion of GSH, in spite of the elevated activity of GR, not only diminished the activity of GSH-depend GST and GPx, but increased LPO, carbonylation and decreased TAC. These changes could promote the structural and functional alterations in the thoracic aorta of MFS patients.

Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome

1994 ◽  
Vol 74 (4) ◽  
pp. 369-373 ◽  
Author(s):  
Richmond W. Jeremy ◽  
Hui Huang ◽  
John Hwa ◽  
Hugh McCarron ◽  
Clifford F. Hughes ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Aortic Dilatation ◽  
Arterial Distensibility

scholarly journals ANAESTHETIC MANAGEMENT OF A CASE OF MARFAN SYNDROME POSTED FOR BENTALL OPERATION: A CASE REPORT

2020 ◽  
pp. 1-3
Author(s):  
Parasmani Parasmani ◽  
Ankita Yadav ◽  
Mukesh Kumar
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Heart Valves ◽  
Composite Graft ◽  
Anaesthetic Management ◽  
Connective Tissue Disorder ◽  
Aortic Dilatation ◽  
Autosomal Dominant Trait ◽  
Bentall Operation ◽  
Bentall Procedure

Marfan syndrome is a connective tissue disorder that is inherited as an autosomal dominant trait. [3] These patients have tubular long bones giving ‘Abe Lincon’[3] appearance. Cardio-vasular anomalies are responsible for early deaths in patients of Marfan syndrome. Defective connective tissue in the aorta and heart valves can lead to aortic dilatation, dissection, rupture and prolapse of cardiac valves. [3] Bentall procedure is a type of cardiac surgery involving composite graft replacement of the aortic valve, aortic root and ascending aorta, with the re-implantation of the coronary arteries into the graft.

Abstract 18889: Circulating microRNA Implicated in the TGF-β Signalling Pathway are Altered in Marfan Syndrome

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Elizabeth N Robertson ◽  
Yaxin Lu ◽  
Alex Sahagian ◽  
Donna Lai ◽  
Murat Kekic ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cardiovascular Disease ◽  
Marfan Syndrome ◽  
Regulation Of Gene Expression ◽  
Left Ventricular ◽  
Microrna Expression ◽  
Aortic Aneurysms ◽  
Circulating Microrna ◽  
Transcriptional Level ◽  
Aortic Dilatation

Thoracic aortic aneurysms in Marfan Syndrome (MFS) caused by mutations in FBN1 are associated with altered TGF-β signaling. Regulation of gene expression can occur at the level of microRNA, which can modify signaling pathways. We hypothesized that there would be altered microRNA expression in MFS that may alter the expression of signaling proteins. Total RNA was isolated from whole blood collected in PAXgene® tubes (PreAnalytiX), from 13 MFS patients with aortic dilatation (6F, 7M; Ao Diameter 44.4±6.0mm; Age 39±12yrs) and 10 normal controls (5F, 5M; Ao Diameter 32.3±5mm; Age 34±10yrs). The RNA was reverse transcribed with Human Pool A & B primers and qPCR was performed on the subsequent cDNA using TaqMan® OpenArray® Human miRNA Panels (2454 targets) (ThermoFisher). microRNA expression was considered to be significantly altered if there was >2 fold change (p<0.05) compared to controls. microRNA that were identified as significantly altered were then validated with qPCR using targeted primers on an additional 33 MFS patients (15F, 21M; Ao Diameter 44.2±5.0mm; Age 37±13yrs). In MFS patients, the OpenArray® identified 30 microRNA were significantly altered (22 up regulated, 8 down regulated). Of these, 12 were confirmed to be altered using targeted qPCR (Graph 1). Three of these have previously been identified as modifiers of the TGF-β signaling pathway (miR 17, miR 93, miR 93*). Three were from the let-7 family (let-7e, let-7f, let-7g), which are involved in terminal cell differentiation and have been implicated in several cardiovascular disease processes. Another three have been shown to be dysregulated in various cardiovascular disease states including atherosclerotic thoracic aortic aneurysm and left ventricular hypertrophy (miR 208, miR 486, miR 378). This study provides novel evidence for adaptive responses at the post-transcriptional level of gene expression that may modulate aneurysm development in Marfan syndrome.

Effect of Beta-Blockade on Ascending Aortic Dilatation in Children With the Marfan Syndrome

2007 ◽  
Vol 99 (3) ◽  
pp. 406-409 ◽  
Author(s):  
Magalie Ladouceur ◽  
Christophe Fermanian ◽  
Jean-Marc Lupoglazoff ◽  
Thomas Edouard ◽  
Yves Dulac ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Beta Blockade ◽  
Aortic Dilatation

Abdominal Aortic Dilatation During Pregnancy in Marfan Syndrome

2012 ◽  
Vol 65 (3) ◽  
pp. 288-289
Author(s):  
María Goya ◽  
Maria Alvarez ◽  
Gisela Teixido-Tura ◽  
Carme Merced ◽  
Víctor Pineda ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Aortic Dilatation ◽  
Abdominal Aortic

Cardiovascular Lesions in Bovine Marfan Syndrome

1994 ◽  
Vol 31 (5) ◽  
pp. 501-509 ◽  
Author(s):  
K. A. Potter ◽  
T. E. Besser
Keyword(s):  
Pulmonary Artery ◽  
Cardiac Tamponade ◽  
Marfan Syndrome ◽  
Aortic Rupture ◽  
Elastic Fibers ◽  
Aortic Tissue ◽  
Aortic Dilatation ◽  
Cystic Medial Necrosis ◽  
Aortic Media ◽  
Elastic Laminae

Bovine Marfan syndrome is a genetic disease with many of the clinical and pathologic manifestations of human Marfan syndrome. Major manifestations include ectopia lentis and aortic dilatation, aneurysm, and rupture. Affected cattle have a defect in fibrillin metabolism similar to that in human patients. Ten cattle were followed and their disease progression and lesions documented. Ages ranged from a term fetus (No. 9) to a 4-year-old cow (No. 4); three animals were male (Nos. 1–3) and seven were female (Nos. 4–10). Of eight animals (80%) that died or were euthanatized (Nos. 1–3, 5–9), six (75%) had severe cardiovascular lesions identified at necropsy. Gross cardiovascular lesions of bovine Marfan syndrome included cardiac tamponade secondary to aortic rupture (animal Nos. 3, 6, 8), dissecting aneurysms of the aorta and pulmonary artery (animal No. 5), and intrauterine cardiac tamponade secondary to rupture of the pulmonary artery (animal No. 9). Microscopically, Verhoeff Van Gieson-stained sections of aorta contained severe fragmentation of the elastic laminae in the aortic media, but the cystic medial necrosis seen in human Marfan aortae was not identified, even in the chronic aortic dissection. Ultrastructurally, affected aortic tissue was characterized by thin, dark elastic fibers with abundant, tangled microfibrils on the periphery, Swirls of collagen fibers and bundles of hypertrophic smooth muscle cells replaced damaged elastic laminae. Gross and microscopic cardiovascular lesions in bovine Marfan syndrome are similar to those in human Marfan syndrome. Bovine Marfan syndrome is a valuable model for investigation of molecular pathogenesis and treatment of human Marfan syndrome.

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