This page shows you your search results in order of relevance. This is page number 9.

Order by Relevance | Date

Total 715932 results found since Jan 2013.

Anterior spinal artery syndrome from type A aortic dissection in a patient with Marfan syndrome due to a novel fibrillin mutation.
We report a case of anterior spinal artery syndrome due to aortic dissection in a patient with Marfan syndrome caused by a novel fibrillin mutation. A 53-year old female presented with chest pain and sudden-onset paralysis. Neurological examination revealed normal upper limb examination, reduced lower limb power and reflexes but normal sensation. CT scanning revealed type A acute aortic dissection which was treated with emergent cardiac surgical repair. At clinic follow up 3 years later, signs of Marfan syndrome were opportunistically noted and genetic testing revealed a novel mutation in the Fibrillin 1 gene. This case em...
Source: Journal of the Royal College of Physicians of Edinburgh - July 12, 2018 Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis PEDIATRICS
CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
Source: American Journal of Neuroradiology - October 5, 2020 Category: Radiology Authors: Spinardi, L., Vornetti, G., De Martino, S., Golfieri, R., Faccioli, L., Pastore Trossello, M., Graziano, C., Mariucci, E., Donti, A. Tags: PEDIATRICS Source Type: research

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome
We report 2 cases of ocular-only Stickler syndrome and 2 cases of Marfan syndrome concurrent with ocular-only Stickler syndrome. Type 1 Stickler syndrome and Marfan syndrome share many clinical similarities, and it can be difficult to differentiate them solely based on clinical presentation. Vitreous phenotyping allows for the identification of vitreous anomalies pathognomonic of Stickler syndrome, which can guide future gene sequencing. Having the accurate diagnosis of Marfan or type 1 Stickler syndrome is important, as patients with type 1 Stickler syndrome have higher rates of retinal detachment and will benefit from pr...
Source: European Journal of Ophthalmology - April 9, 2023 Category: Opthalmology Authors: Hammad Malik Zack Soh Thomas R W Nixon Annie McNinch Allan J Richards Philip Alexander Howard Martin Martin P Snead Source Type: research

Long ‐term miR‐29b suppression reduces aneurysm formation in a Marfan mouse model
Abstract Aortic root aneurysm formation and subsequent dissection and/or rupture remain the leading cause of death in patients with Marfan syndrome. Our laboratory has reported that miR‐29b participates in aortic root/ascending aorta extracellular matrix remodeling during early aneurysm formation in Fbn1C1039G/+ Marfan mice. Herein, we sought to determine whether miR‐29b suppression can reduce aneurysm formation long‐term. Fbn1C1039G/+ Marfan mice were treated with retro‐orbital LNA‐anti‐miR‐29b inhibitor or scrambled‐control‐miR before aneurysms develop either (1) a single dose prenatally (pregnant Fbn1C...
Source: Physiological Reports - April 28, 2017 Category: Physiology Authors: Homare Okamura, Fabian Emrich, Jeffrey Trojan, Peter Chiu, Alex R. Dalal, Mamoru Arakawa, Tetsuya Sato, Kiril Penov, Tiffany Koyano, Albert Pedroza, Andrew J. Connolly, Marlene Rabinovitch, Cristina Alvira, Michael P. Fischbein Tags: Original Research Source Type: research

Rescue Nuss procedure for inferior vena cava compression syndrome following posterior scoliosis surgery in Marfan syndrome
ConclusionThe problem of congenital stenosis of the inferior vena cava in Marfan syndrome has not yet been investigated. In the case of simultaneously existing funnel chest and scoliosis in Marfan syndrome, an interdisciplinary discussion is required to decide whether a repair of the funnel chest should be performed first in order to prevent a clinically relevant compression syndrome. For the detection of a preoperatively relevant stenosis of the inferior vena cava, an MRI or thoracic/abdominal CT should be used preoperatively.
Source: European Spine Journal - October 5, 2018 Category: Orthopaedics Source Type: research

Imaging-Based 4D Aortic Pressure Mapping in Marfan Syndrome Patients: A Matched Case-Control Study.
CONCLUSIONS: Noninvasive 4D pressure mapping derived from 4D flow CMR revealed significant alterations of spatiotemporal pressure characteristics in the thoracic aorta of Marfan patients. These alterations were most pronounced in the proximal ascending aorta and the proximal descending aorta corresponding to the regions where aortic dissections often originate in Marfan patients. PMID: 31568745 [PubMed - as supplied by publisher]
Source: The Annals of Thoracic Surgery - September 26, 2019 Category: Cardiovascular & Thoracic Surgery Authors: Leidenberger T, Gordon Y, Farag M, Delles M, Sanches AF, Fink MA, Kallenbach K, Kauczor HU, Rengier F Tags: Ann Thorac Surg Source Type: research

Marfan syndrome: An eyesight of syndrome.
Abstract Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has...
Source: Gene - August 13, 2013 Category: Genetics & Stem Cells Authors: Kumar A, Agarwal S Tags: Gene Source Type: research

NADPH oxidase 4 attenuates cerebral artery changes during the progression of Marfan syndrome
Marfan syndrome (MFS) is a connective tissue disorder that is often associated with the fibrillin-1 (Fbn1) gene mutation and characterized by cardiovascular alterations, predominantly ascending aortic aneurysms. Although neurovascular complications are uncommon in MFS, the improvement in Marfan patients' life expectancy is revealing other secondary alterations, potentially including neurovascular disorders. However, little is known about small-vessel pathophysiology in MFS. MFS is associated with hyperactivated transforming growth factor (TGF)-β signaling, which among numerous other downstream effectors, induces the N...
Source: AJP: Heart and Circulatory Physiology - April 30, 2016 Category: Cardiology Authors: Onetti, Y., Meirelles, T., Dantas, A. P., Schröder, K., Vila, E., Egea, G., Jimenez-Altayo, F. Tags: CALL FOR PAPERS Source Type: research

Endovascular Treatment for Type B Dissection in Marfan Syndrome: Is It Worthwhile? REVIEWS
Marfan syndrome is the most frequently inherited disorder of connective tissue and is strongly associated with aortic dilatation, dissection, and rupture; in these patients, type B dissection occurs substantially. It is not known whether stent grafting, which is now frequently used in type B aortic dissection and descending thoracic aneurysms in non-Marfan patients, is a valuable option in Marfan patients, and reports from the literature are sparse and sporadic. We performed a systematic review of studies reporting the early and late results of endovascular stent grafting in Marfan patients with type B dissection in the at...
Source: The Annals of Thoracic Surgery - January 30, 2013 Category: Cardiovascular & Thoracic Surgery Authors: Pacini, D., Parolari, A., Berretta, P., Di Bartolomeo, R., Alamanni, F., Bavaria, J. Tags: Great vessels REVIEWS Source Type: research

Sudden Death in Marfan Syndrome.
Abstract Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, infections, valve and arch anomalies, genetic disorders, and atherosclerosis. These aneurysms upon rupture may lead to sudden deaths. They are usually detected during routine screening or follow-up of such persons suffering from Marfan syndrome and upon death will be certified by the treatin...
Source: Journal of Forensic Sciences - February 6, 2014 Category: Forensic Medicine Authors: Hugar BS, Praveen S, Kainoor SK, Shetty AR Tags: J Forensic Sci Source Type: research

Echocardiographic versus Histologic Findings in Marfan Syndrome.
Abstract This retrospective study attempted to establish the prevalence of multiple-valve involvement in Marfan syndrome and to compare echocardiographic with histopathologic findings in Marfan patients undergoing valvular or aortic surgery. We reviewed echocardiograms of 73 Marfan patients who underwent cardiovascular surgery from January 2004 through October 2009. Tissue histology was available for comparison in 29 patients. Among the 73 patients, 66 underwent aortic valve replacement or the Bentall procedure. Histologic findings were available in 29 patients, all of whom had myxomatous degeneration. Of 63 patie...
Source: Texas Heart Institute Journal - February 1, 2015 Category: Cardiology Authors: Gu X, He Y, Li Z, Han J, Chen J, Nixon JV Tags: Tex Heart Inst J Source Type: research

Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome.
In conclusion, severe cardiovascular involvement in Marfan patients, and especially aortic dissection, is associated with higher HCY plasma levels and prevalence of homozygous genotypes of folic acid metabolism enzymes than mild or no cardiovascular involvement. These results suggest that impaired folic acid metabolism has an important role in the development and remodelling of the extracellular matrix of the aorta. PMID: 26063524 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - June 11, 2015 Category: Hematology Authors: Benke K, Ágg B, Mátyás G, Szokolai V, Harsányi G, Szilveszter B, Odler B, Pólos M, Maurovich-Horvat P, Radovits T, Merkely B, Nagy ZB, Szabolcs Z Tags: Thromb Haemost Source Type: research

Outcomes of Aortic Valve-Sparing Operations in Marfan Syndrome
ConclusionsAortic valve-sparing operations in patients with Marfan syndrome were associated with low rates of valve-related complications in long-term follow-up. Residual and new aortic dissections were the leading cause of death.
Source: Journal of the American College of Cardiology - September 21, 2015 Category: Cardiology Source Type: research

The Incidence and Severity of Physical Pain Symptoms in Marfan Syndrome: A Survey of 993 Patients
Objective: To characterize the incidence, severity, quality, and treatment of pain in a large cohort of Marfan patients. Materials and Methods: A web-based survey was distributed to all individuals on the Marfan Foundation listserv. Respondents who endorsed a diagnosis of Marfan syndrome were queried as to the presence, frequency, severity, location, and quality of their pain and were asked to describe the specific treatments used to manage pain. The primary outcome was the presence of pain symptoms in respondents during the 7-day period preceding completion of the survey. Results: Of the 993 patients with a verified diagn...
Source: The Clinical Journal of Pain - November 9, 2015 Category: Anesthesiology Tags: Original Articles Source Type: research