MITRAL VALVE PROLAPSE: A SMALL ANOMALY OF THE HEART, A NONSPECIFIC MANIFESTATION OF HEREDITARY CONNECTIVE TISSUE DISORDERS OR AN INDEPENDENT SYNDROME? by E. V. Timofeev, E. G. Malev, E. V. Zemtsovsky, S. V. Reeva

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A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome by Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro

“…Abstract Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling; nevertheless, LDS type 1/2 caused by TGFBR1/2 pathogenic variants is frequently found to have paradoxical increases in TGF‐β signaling in the aneurysmal aortic wall. …”
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No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. by Romy Franken, Stijntje Hibender, Alexander W den Hartog, Teodora Radonic, Carlie J M de Vries, Aeilko H Zwinderman, Maarten Groenink, Barbara J M Mulder, Vivian de Waard

“…AIMS:Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. …”
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Turner syndrome and guidelines for management of thoracic aortic disease: Appropriateness and utility by Hisham M.F Sherif

“…Current guidelines for genetically triggered thoracic aortic disease are based on data from Marfan syndrome population. There remain significant differences between Turner syndrome and Marfan syndrome (in patient gender, fertility, stature, female sex hormone and growth hormone therapy as well as presence of coarctation) may have influence on the natural history of the disease and risk assessment. …”
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De novo heterozygous pathogenic FBN1 variant in an autopsy case of multiple aneurysms and right renal artery dissection: a case report by Taylor MacGowan, Taylor MacGowan, Taylor McClinchey, Vibhu Parcha, Matteo Vatta, Silvio Litovsky, Pankaj Arora, Paul V. Benson

“…BackgroundMarfan syndrome is a potentially fatal inherited autosomal dominant condition impacting the cardiovascular and the skeletal system with an estimated 25% cases caused by sporadic genetic variations. …”
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Current role of endovascular therapy in Marfan patients with previous aortic surgery by Ibrahim Akin, Stephan Kische, Tim C Rehders, Tushar Chatterjee, Henrik Schneider, et al

“…Thirty-four percent of the patients with Marfan syndrome will have serious cardiovascular complications requiring surgery in the first 10 years after diagnosis. …”
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Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans. by Jing Lin, Mehul Vora, Nanci S Kane, Ryan J Gleason, Richard W Padgett

“…The transforming growth factor-β (TGFβ) family plays an important role in many developmental processes and when mutated often contributes to various diseases. Marfan syndrome is a genetic disease with an occurrence of approximately 1 in 5,000. …”
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Congenital contractural arachnodactyly (Beals syndrome) by Alanay Yasemin, Tunçbilek Ergül

“…Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. …”
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Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis by Betti Giusti, Betti Giusti, Betti Giusti, Betti Giusti, Elena Sticchi, Elena Sticchi, Elena Sticchi, Elena Sticchi, Rosina De Cario, Rosina De Cario, Alberto Magi, Alberto Magi, Stefano Nistri, Stefano Nistri, Guglielmina Pepe, Guglielmina Pepe, Guglielmina Pepe

“…BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication. …”
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Genetic testing for Marfan-like disorders by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo

“…Marfan-like disorders are inherited conditions with features resembling Marfan syndrome but without a pathogenic variant in FBN1, and/or without a clinical diagnosis of Marfan syndrome according to the Revised Ghent criteria, and/or with a pathogenic variant in a different disease gene. …”
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Genes and arthritis. by Wordsworth, P

“…Among these osteogenesis imperfecta (OI) and the Marfan syndrome are striking examples in which molecular defects of matrix protein components of the mesodermal tissues have been revealed. …”

Backbone dynamics of a cbEGF domain pair in the presence of calcium. by Werner, J, Knott, V, Handford, P, Campbell, I, Downing, A

“…These results provide important insight into the properties of intact fibrillin-1, the consequences of Marfan syndrome causing mutations, and the ultrastructure of fibrillins and other extracellular matrix proteins.…”

3204 Renin-Angiotensin System Inhibitors Do Not Improve Survival in Fibrillin-1 Hypomorphic Mice with Established Aortic Aneurysm by Mary Burchett Sheppard, Jeff Zheying Chen, Debra L. Rateri, Jessica J. Moorleghen, Mackenzie Weiland, Alan Daugherty

“…OBJECTIVES/SPECIFIC AIMS: Drugs to attenuate aortic growth are usually not initiated in patients with Marfan syndrome until aortic dilation is already present. …”
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Case Reports of Aortic Aneurism in Fragile X Syndrome by Sivan Lewis, Andrew DePass, Randi J. Hagerman, Reymundo Lozano

“…Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. …”
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Factors affecting distal false lumen enlargement after thoracic endovascular aortic repair for type B aortic dissection by Qian-hui Tang, Jing Chen, Zhen Long, Yu-Lin Wang, Xuan-an Su, Jian-ye Qiu, Qiu-ning Lin, Jiang-feng Zhang, Xiao Qin

“…There were significant differences in Marfan syndrome, chronic obstructive pulmonary disease (COPD), and follow-up time between the two groups. …”
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Smooth muscle LDL receptor-related protein-1 deletion induces aortic insufficiency and promotes vascular cardiomyopathy in mice. by Joshua E Basford, Sheryl Koch, Ahmad Anjak, Vivek P Singh, Eric G Krause, Nathan Robbins, Neal L Weintraub, David Y Hui, Jack Rubinstein

“…Valvular disease is common in patients with Marfan syndrome and can lead to cardiomyopathy. However, some patients develop cardiomyopathy in the absence of hemodynamically significant valve dysfunction, suggesting alternative mechanisms of disease progression. …”
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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. by Le Goff, C, Mahaut, C, Wang, L, Allali, S, Abhyankar, A, Jensen, S, Zylberberg, L, Collod-Beroud, G, Bonnet, D, Alanay, Y, Brady, A, Cordier, M, Devriendt, K, Genevieve, D, Kiper, P, Kitoh, H, Krakow, D, Lynch, SA, Le Merrer, M, Mégarbane, A, Mortier, G, Odent, S, Polak, M, Rohrbach, M, Sillence, D

“…After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. …”

Pirmosios aortos vožtuvą išsaugančios operacijos šalinant kylančios aortos aneurizmas Vilniaus universiteto Širdies chirurgijos centre by Vytautas Sirvydis, Saulius Raugelė, Arimantas Grebelis, Gintaras Turkevičius, Rimantas Karalius, Rasa Čypienė, Palmyra Semėnienė

“…Key words: aortic aneurysm, Marfan syndrome, David procedure…”
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Evaluación de las características de la disección aórtica en la población mexicana mediante angiotomografía computarizada by Luis Burboa-Noriega, Jesús Burboa-Noriega, César Cristancho-Rojas, Sergio Criales-Vera

“…There was a significant association, with a marginal P in patients with Marfan syndrome and Stanford subtypes of AD (P = .0506). …”
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Loss of Endothelial Barrier in Marfan Mice (mgR/mgR) Results in Severe Inflammation after Adenoviral Gene Therapy. by Philipp Christian Seppelt, Simon Schwill, Alexander Weymann, Rawa Arif, Antje Weber, Marcin Zaradzki, Karsten Richter, Stephan Ensminger, Peter Nicholas Robinson, Andreas H Wagner, Matthias Karck, Klaus Kallenbach

“…OBJECTIVES:Marfan syndrome is an autosomal dominant inherited disorder of connective tissue. …”
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