Identification of retinoic acid in a high content screen for agents that overcome the anti-myogenic effect of TGF-beta-1. by Chateen Krueger, F Michael Hoffmann

“…When neutralizing antibodies to TGF-β1 or the angiotensin II inhibitor losartan were used to reduce TGF-β1 signaling, muscle morphology and function were restored in mouse models of Marfan Syndrome and muscular dystrophy. The goal of our studies was to identify additional agents that overcome the anti-myogenic effect of TGF-β1.A high-content cell-based assay was developed in a 96-well plate format that detects the expression of myosin heavy chain (MHC) in C2C12 cells. …”
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P26 Ascending Aorta Longitudinal Strain is not Altered in Bicuspid Aortic Valve Patients by Andrea Guala, Lydia Dux-Santoy, Gisela Teixido-Tura, Aroa Ruiz-Muñoz, Laura Madrenas, Minerva Gandara, Augusto Sao-Aviles, Filipa Valente, Laura Galian-Gay, Laura Gutierrez, Teresa Gonzalez-Alujas, Ignacio Ferreira, Arturo Evangelista, Jose Rodriguez-Palomares

“…Background: Impaired ascending aorta (AAo) longitudinal strain, a marker of AAo deformation due to aorto-ventricular mechanical interaction, is related to progressive dilation and aortic events in Marfan syndrome [1]. Whether the high prevalence of dilation in bicuspid aortic valve (BAV) is due to intrinsically-altered aortic wall properties [2] or hemodynamic [3] is widely-discussed [4]. …”
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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly by Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang

“…Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and cardiovascular complications that characterize MFS. …”
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Iatrogenic coarctation caused by branched thoracic endovascular aortic repair treated with Palmaz XL stent and triple kissing balloon technique by Wolf Eilenberg, MD, PhD, Giuseppe Panuccio, MD, PhD, Fiona Rohlffs, MD, PhD, Ahmed S. Eleshra, MD, PhD, Franziska Heidemann, MD, Tilo Kölbel, MD, PhD

“…A 42-year-old woman with Marfan syndrome had presented with aneurysmatic dilatation of the aortic arch 10 years after open aortic arch repair. …”
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Applications of gene modification technologies in the treatment of inherited diseases by Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak

“…Treating inherited diseases such as cystic fibrosis, Duchenne muscular dystrophy, thalassemia, hemophilia, Huntington's disease, Crigler-Najjar syndrome, sickle cell anemia, Marfan syndrome, and phenylketonuria, is feasible with this novel technique. …”
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Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections. by Siddharth Prakash, Shao-Qing Kuang, GenTAC Registry Investigators, Ellen Regalado, Dongchuan Guo, Dianna Milewicz

“…The spectrum of TAAD ranges from genetic disorders, such as Marfan syndrome, to sporadic isolated disease of unknown cause. …”
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Dysmetabolic nephropathy in children with hereditary connective tissue dysplasia by E. A. Yurieva, V. V. Dlin, E. S. Vozdvizhenskaya, V. S. Sukhorukov, A. N. Semyachkina, M. N. Kharabadze

“…We examined 36 children with Ehlers–Danlos syndrome and 10 children with Marfan syndrome to reveal signs of metabolic disorders in the blood and urine.Results. …”
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The Impact of Oxidative Stress on Pediatrics Syndromes by Ginevra Micangeli, Michela Menghi, Giovanni Profeta, Francesca Tarani, Alessandro Mariani, Carla Petrella, Christian Barbato, Giampiero Ferraguti, Mauro Ceccanti, Luigi Tarani, Marco Fiore

“…On the contrary, in Williams syndrome, Down syndrome, Marfan syndrome, Gaucher syndrome, ataxia-telangiectasia, autistic spectrum disorder, Fanconi’s anemia, and primitive immunodeficiencies, the increase in oxidative stress is directly associated with the genetic alterations that cause the same pathologies. …”
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The Role of Transforming Growth Factor-β Signaling in Myxomatous Mitral Valve Degeneration by Qiyu Tang, Andrew J. McNair, Kanchan Phadwal, Vicky E. Macrae, Brendan M. Corcoran, Brendan M. Corcoran

“…Human MVP is usually classified into primary or non-syndromic, including Barlow’s Disease (BD), fibro-elastic deficiency (FED) and Filamin-A mutation, and secondary or syndromic forms (typically familial), such as Marfan syndrome (MFS), Ehlers-Danlos syndrome, and Loeys–Dietz syndrome. …”
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A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects. by Whiteman, P, Smallridge, R, Knott, V, Cordle, J, Downing, A, Handford, P

“…A missense mutation that changes a highly conserved glycine to serine (G1127S) has been identified in cbEGF13, which results in a variant of Marfan syndrome, a connective tissue disease. Previous experiments on isolated cbEGF13 and a cbEGF13-14 pair indicated that the G1127S mutation caused defective folding of cbEGF13 but not cbEGF14. …”

96 The effect of ramipril on the rate of aortic dilatation in bicuspid aortic valve disease: results from a prospective, double blinded, randomised trial. by Loudon, M, Bull, S, Joseph, J, Francis, J, Rider, O, Karamitsos, T, Prendergast, B, Neubauer, S, Myerson, S

“…Inhibition of the renin-angiotensin system (RAS) appears toslow the rate of aortic dilatation in Marfan syndrome, but the effect on the aorta in BAV disease is unknown.We hypothesised that inhibition of the RAS in patients with BAV may reduce the rate of AA dilatation. …”

Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease by Yu Mi Choi, Kye Sik Shim, Kyung Lim Yoon, Mi Young Han, Sung Ho Cha, Su Kang Kim, Joo Ho Jung

“…Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. …”
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Outcome of Capsular Tension Ring (CTR) Implant in Complicated Cataracts by Garima Rai, Anshu Sahai, Pukhrambam Ratan Kumar

“…The indications were hypermature senile cataract in 9 cases, hypermature senile cataract with lens induced glaucoma in 9 cases, pseudoexfoliation syndrome in 9 cases, post blunt injury traumatic cataract in 6 cases, iridochoroidal coloboma in 6 cases, hypermature cataract with pseudoexfoliation and marfan syndrome in 3 cases respectively. Decision of CTR implant was intraoperative in 42 patients. …”
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Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation by Melanie Richard, CCPA, Pallav Shah, MD, Pam Katz, MD, Karin Love, CCPA, Nikki Semaniuk, CCPA, Alan Menkis, MD, Cheryl Rockman-Greenberg, MD, CM

“…Screening for DNA variants was performed using the Marfan Syndrome and Related Aortopathies NextGen Sequencing Panel (Collagen Diagnostic Laboratory, University of Washington, Seattle). …”
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Surgical outcomes associated with sleep apnea syndrome in Stanford A aortic dissection patients by Zeng-Rong Luo, Ling-Li Yu, Liang-Wan Chen

“…The significant risk factors (RF) for poor survival were: severe (p = 0.002) or moderate SAS (p = 0.008), prolonged ventilation time (p = 0.018), AKI (p = 0.015), HF New York Heart Association (NYHA) IV (p = 0.005) or III (p = 0.015), pneumonia (p = 0.005), Marfan syndrome (p = 0.010), systolic blood pressure (BP) upon arrival (p = 0.009), and BMI ≥ 30 (p = 0.004). …”
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Bilateral posterior crystalline lens dislocations in an otherwise healthy child by AlShehri, Omar A., Almarzouki, Hashem, Alharbi, Badr A., Alqahtani, Mohammed, Allam, Khaled

“…It can be a result of trauma, hereditary ocular disease, or part of systemic diseases, like Marfan syndrome and homocystinuria.Case description: We report a case of a medically free 16-year-old girl, who was referred to our hospital complaining of poor vision and a squint in both eyes since childhood. …”
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Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation by Maryline Abrial, Sandeep Basu, Mengmeng Huang, Vincent Butty, Asya Schwertner, Spencer Jeffrey, Daniel Jordan, Caroline E. Burns, C. Geoffrey Burns

“…Aortic root aneurysm is a common cause of morbidity and mortality in Loeys-Dietz and Marfan syndromes, where perturbations in transforming growth factor beta (TGFβ) signaling play a causal or contributory role, respectively. …”
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Analysis of the corrective contribution of strong halo-femoral traction in the treatment of severe rigid nonidiopathic scoliosis by Hongqi Zhang, Guanteng Yang, Chaofeng Guo, Jinyang Liu, Mingxing Tang

“…The etiology was congenital in 17 patients, neuromuscular in 14 patients, neurofibromatosis-1 in 3 patients, and Marfan syndrome in 2 patients. Congenital high scapular disease with scoliosis was found in 2 patients. …”
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Clinical impact of visceral-to-subcutaneous fat ratio in patients with acute aortic dissection. by Yusuke Miura, Satoshi Higuchi, Kenichi Matsushita, Toshiya Kariyasu, Haruhiko Machida, Kenichi Yokoyama, Kyoko Soejima, Toru Satoh

“…Patients who died during hospitalization, and those diagnosed with Marfan's syndrome were excluded. Visceral and subcutaneous fat accumulation (VFA, SFA) at umbilical level were calculated on a dedicated workstation. …”
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Aortopathies: From Etiology to the Role of Arterial Stiffness by Giovanni Battista Bonfioli, Luca Rodella, Roberta Rosati, Alberto Carrozza, Marco Metra, Enrico Vizzardi

“…Higher values of PWV could also be found in some genetic diseases, such as Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS). Aortic stiffness has emerged as a major new cardiovascular disease (CVD) risk factor, and its evaluation using PWV could be very useful to identify patients with a high cardiovascular risk, giving some important prognostic information but also being used to value the benefits of therapeutic strategies.…”
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