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Keisuke Handa, Syouta Abe, V Venkata Suresh, Yoshiyasu Fujieda, Masaki Ishikawa, Ai Orimoto, Yoko Kobayashi, Satoru Yamada, Satoko Yamaba, Shinya Murakami, Masahiro Saito
OBJECTIVE: Marfan syndrome (MFS) is a systemic connective tissue disorder caused by insufficient fibrillin-1 (FBN-1), a major component of microfibrils that controls the elasticity and integrity of connective tissues. FBN-1 insufficiency in MFS leads to structural weakness, which causes various tissue disorders, including cardiovascular and periodontal disease. However, the role of FBN-1 insufficiency in the destruction and regeneration of connective tissue has not yet been clarified...
March 6, 2018: Archives of Oral Biology
Prashant Rao, Jack B Keenan, Taufiek K Rajab, Samuel Kim, Richard Smith, Orazio Amabile, Zain Khalpey
INTRODUCTION: Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. METHODS: A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection...
March 2018: International Journal of Artificial Organs
Joyce J Lu, Jason D Slaikeu, Peter Y Wong
Marfan syndrome is a well-described autosomal dominant connective tissue disorder with a constellation of anatomic characteristics including aortic degeneration as a result of the spontaneous mutation of the fibrillin gene, FBN1 . Whereas life-threatening dissection and ascending aneurysmal rupture have been thoroughly documented in the literature, aneurysms of the abdominal aorta and those present in the pediatric population have only rarely been reported. In this case report, we describe presentation, successful open surgical repair, and recovery of a pediatric Marfan syndrome patient with a ruptured abdominal aortic aneurysm...
March 2018: Journal of Vascular Surgery Cases and Innovative Techniques
Masood Abu-Halima, Mustafa Kahraman, Dominic Henn, Tanja Rädle-Hurst, Andreas Keller, Hashim Abdul-Khaliq, Eckart Meese
BACKGROUND: MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and messenger RNAs (mRNA) in monogenic constitutional anomalies affecting several organ systems, like Marfan syndrome (MFS). We performed integrated miRNA and mRNA expression profiling in blood samples of Marfan patients in order to investigate deregulated miRNA and mRNA networks in these patients which could serve as potential diagnostic and prognostic tools for MFS therapy...
March 12, 2018: Journal of Translational Medicine
Dido Scheibenberger, Andreas Frings, Johannes Steinberg, Helke Schüler, Vasyl Druchkiv, Toam Katz, Yskert von Kodolitsch, Stephan Linke
PURPOSE: To evaluate corneal deformation to an air puff as a new noninvasive tool to document disease status in Marfan syndrome (MFS) METHODS: Prospective observational cohort study. We included patients diagnosed with MFS who had their routine cardiovascular follow-up and applied the revised Ghent nosology to define two subgroups according to a high (≥ 7) and a low (< 7 points) systemic score. Dynamic Scheimpflug-based biomechanical analyses (CorvisST® [CST; Oculus GmbH]) were performed...
March 10, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Ilaria Biasato, Renato Zanatta, Lorella Maniscalco, Rocchina Evangelista, Bryan Iotti, Selina Iussich
The unexpected demise of a 12-year-old male neutered English bulldog solicited a gross examination, which revealed a blood-filled space occurring in the proximal left subclavian artery (LSA). It originated about 1 cm from the branching point of the vessel and progressively dilated for 3 cm distal to this origin. Histopathological investigation showed that the tunica media of the LSA was more than 50% split, with the blood-filled space dissecting through the arterial wall. In the tunica media of the LSA, severe multifocal fragmentation and/or loss of the elastic fibers was observed...
March 5, 2018: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
Frank S Cikach, Christopher D Koch, Timothy J Mead, Josephine Galatioto, Belinda B Willard, Kelly B Emerton, Matthew J Eagleton, Eugene H Blackstone, Francesco Ramirez, Eric E Roselli, Suneel S Apte
Proteoglycan accumulation is a hallmark of medial degeneration in thoracic aortic aneurysm and dissection (TAAD). Here, we defined the aortic proteoglycanome using mass spectrometry, and based on the findings, investigated the large aggregating proteoglycans aggrecan and versican in human ascending TAAD and a mouse model of severe Marfan syndrome. The aortic proteoglycanome comprises 20 proteoglycans including aggrecan and versican. Antibodies against these proteoglycans intensely stained medial degeneration lesions in TAAD, contrasting with modest intralamellar staining in controls...
March 8, 2018: JCI Insight
Christian L Lino Cardenas, Chase W Kessinger, Carolyn MacDonald, Arminder S Jassar, Eric M Isselbacher, Farouc A Jaffer, Mark E Lindsay
Loss-of-function mutations in genes encoding contractile proteins have been observed in thoracic aortic aneurysms (TAA). To gain insight into the contribution of contractile protein deficiency in the pathogenesis of TAA, we examined human aneurysm samples. We found multiple contractile gene products deficient in TAA samples, and in particular, expression of SM22α was inversely correlated with aneurysm size. SM22α-deficient mice demonstrated pregnancy-induced aortic dissection, and SM22α deficiency worsened aortic aneurysm in Fbn1C1039G/+ (Marfan) mice, validating this gene product as a TAA effector...
March 8, 2018: JCI Insight
Hiroaki Osada, Masahisa Kyogoku, Tekehiko Matsuo, Naoki Kanemitsu
OBJECTIVES: The aim of this study was to identify pathological changes of aortic dissection based on histopathological evaluation of aortic wall weakness by comparing patients with and without congenital abnormalities. METHODS: We reviewed records of patients who underwent repair for dissection-related aortic disease between 2008 and 2015. Fifty patients (20 men and 30 women; mean age 66.9 ± 14.0 years) who underwent surgery with subsequent histopathological examination of the aortic wall were divided into 2 groups...
March 5, 2018: Interactive Cardiovascular and Thoracic Surgery
Jiahui Chen, Qinghe Jing, Yating Tang, Dongjin Qian, Yi Lu, Yongxiang Jiang
Marfan syndrome (MFS) is associated with abnormalities of corneal biometric characteristics. We conducted a retrospective case-control study including 55 eyes of the MFS patients with lens subluxation and 53 normal eyes of the control subjects to evaluate the corneal curvature, astigmatism and aberrations using a rotating Scheimpflug camera (Pentacam HR). Compared with the control group, the anterior, posterior, and total corneal curvature were flatter in the MFS group. The anterior and total corneal astigmatism were higher in the MFS patients, whereas the posterior corneal astigmatism was not significantly different between the two groups...
March 6, 2018: Scientific Reports
Kelli L Hicks, Peter H Byers, Elina Quiroga, Melanie G Pepin, Sherene Shalhub
OBJECTIVE: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. METHODS: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015...
March 3, 2018: Journal of Vascular Surgery
Nazan Puluca, Melchior Burri, Julie Cleuziou, Markus Krane, Rüdiger Lange
OBJECTIVES: Most patients (75%) with Marfan syndrome present with aortic root dilatation that may require surgical intervention. However, associated cardiovascular disorders are not limited to the aortic root. These patients frequently require consecutive operations on the remaining thoracic aorta or the heart valves. Our intent was to characterize the spectrum of such procedures. METHODS: Data from all patients with Marfan syndrome undergoing aortic root surgery at our centre between 1988 and 2016 were analysed retrospectively...
February 28, 2018: European Journal of Cardio-thoracic Surgery
Tomoaki Suzuki, Tohru Asai, Takeshi Kinoshita
BACKGROUND: It is impossible to resolve all the problems of the entire diseased aorta with just one operation for acute type A aortic dissection, which requires additional surgical treatment in the long term. METHODS: From April 2003 to March 2017, 310 patients underwent surgical repair for acute type A aortic dissection at our institution. Of these, thirty-two (10.3%) died in hospital. Of the 278 hospital survivors, 38 underwent late reoperation associated with aortic dissection during the follow-up period...
March 1, 2018: Annals of Thoracic Surgery
Shagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, Ashwin Dalal
We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing. The de-novo status of these variants is not confirmed as parental genotypes could not be ascertained. A comparison of the post-mortem findings of the fetus with reported phenotypes of Beals and Marfan syndromes indicated overlapping clinical features suggestive of a blended phenotype...
March 1, 2018: European Journal of Medical Genetics
Yannan J Wang, Elsio Negron-Rubio, Jayanth H Keshavamurthy, William B Bates
A 25-year-old man with a history of Marfan syndrome, asthma and smoking presented with worsening dyspnoea and right-sided chest pain worsened with deep breathing after a fall 2 days prior. Diagnostic imaging revealed a spontaneous right-sided pneumothorax due to ruptured subpleural bullae in the apex of the right lung. Smaller subpleural bullae were also noted in the apex of the left lung. A chest tube was placed to reduce the right pneumothorax successfully.
February 27, 2018: BMJ Case Reports
María E Soto, Verónica Guarner-Lans, Karla Y Herrera-Morales, Israel Pérez-Torres
Marfan syndrome (MFS) is a pleiotropic genetic disease involving the cardiovascular system where a fibrillin-1 mutation is present. This mutation is associated with accelerated activation of transforming growth factor β (TGFβ1) which contributes to the formation of aneurysms in the root of the aorta. There is an imbalance in the synthesis of thromboxane A2 (TXA2 ) and prostacyclin, that is a consequence of a differential protein expression of the isoforms of cyclooxygenases (COXs), suggesting an alteration of arachidonic acid (AA) metabolism...
2018: Frontiers in Physiology
Kazuhiro Yamazaki, Kenji Minatoya, Ryoma Ueda, Masato Takehara, Kazuhisa Sakamoto, Yujiro Ide, Hideo Kanemitsu, Koji Ueyama, Tadashi Ikeda
Valve-sparing root replacement is increasingly used to overcome drawbacks associated with valvular prostheses. In our institution, 7 patients underwent valve-sparing root replacement from August 2016 to July 2017. The mean age was 45 years (range, 14~69 years). Three patients had Marfan syndrome and 1 had Loeys-Dietz syndrome with acute aortic dissection. All patients underwent surgery with reimplantation technique using a Valsalva graft. Two patients required repair of aortic valve leaflet prolapse. All patients had an excellent clinical course, with mild or no aortic regurgitation and a decrease in end-diastolic volume on echocardiography...
January 2018: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Taira Yamamoto, Daisuke Endo, Kan Kajimoto, Akie Shimada, Shizuyuki Dohi, Kenji Kuwaki, Hiroaki Hata, Atsushi Amano
Aortic root operations are established procedures for patients with aortic root aneurysms, however there is a little insight for comparative long-term outcomes among different types of anatomical abnormalities and procedures. In this study, we sought to compare the results of patients with aortic abnormalities undergoing different procedures. From January 2008 to March 2017, a total of 105 patients without aortic dissection were performed the elective aortic root surgery. Patients with bicuspid aortic valve had enlarged annulus, and those with Marfan syndrome had enlarged Valsalva without enlarged annulus...
January 2018: Kyobu Geka. the Japanese Journal of Thoracic Surgery
P Freyhardt, N Solowjowa, G Böning, J Kahn, B Aufmesser, P Haage, F Streitparth
OBJECTIVES: Aim of the study was the comparison of high-pitch dual-source CTA of the aorta acquired with different tube currents and methods of image reconstruction in patients with Marfan Disease (MFS). BACKGROUND: Patients with MFS receive repeatedly CT examinations of the entire aorta what leads to high cumulative lifetime radiation doses. Routine clinical use of low-kV-protocols in combination with iterative reconstruction for imaging of the aorta is still limited although this approach may be of great benefit for patients in need of serial follow-up scans...
February 15, 2018: Clinical Imaging
Francesc Jiménez-Altayó, Thayna Meirelles, Eva Crosas-Molist, M Alba Sorolla, Darya Gorbenko Del Blanco, Judit López-Luque, Aleksandra Mas-Stachurska, Ana-Maria Siegert, Fabio Bonorino, Laura Barberà, Carolina García, Enric Condom, Marta Sitges, Fernando Rodríguez-Pascual, Francisco Laurindo, Katrin Schröder, Joaquim Ros, Isabel Fabregat, Gustavo Egea
Marfan syndrome (MFS) is characterized by the formation of ascending aortic aneurysms resulting from altered assembly of extracellular matrix fibrillin-containing microfibrils and dysfunction of TGF-β signaling. Here we identify the molecular targets of redox stress in aortic aneurysms from MFS patients, and investigate the role of NOX4, whose expression is strongly induced by TGF-β, in aneurysm formation and progression in a murine model of MFS. Working models included aortae and cultured vascular smooth muscle cells (VSMC) from MFS patients, and a NOX4-deficient Marfan mouse model (Fbn1C1039G/+ -Nox4-/- )...
February 19, 2018: Free Radical Biology & Medicine
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