A Case of an Abdominal Aortic Dissection in a Hemodynamically Stable Marfan Syndrome Patient Presenting without Pain by Hussein Al-Mohamad, Kara Stout, Taryn Bolling, Ronald Walsh

“…Introduction. Marfan syndrome (MFS) is a rare connective tissue disorder attributed to a defect in the fibrillin-1 gene. …”
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Hemodynamic disturbance and mTORC1 activation: Unveiling the biomechanical pathogenesis of thoracic aortic aneurysms in Marfan syndrome by Ming-Yuan Liu, Meili Wang, Junjun Liu, An-Qiang Sun, Chang-Shun He, Xin Cong, Wei Kong, Wei Li

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Cerebral microvascular density, blood-brain barrier permeability, and support for neuroinflammation indicate early aging in a Marfan syndrome mouse model by Tala Curry-Koski, Tala Curry-Koski, Liam P. Curtin, Mitra Esfandiarei, Mitra Esfandiarei, Mitra Esfandiarei, Theresa Currier Thomas, Theresa Currier Thomas, Theresa Currier Thomas, Theresa Currier Thomas

Subjects: “…Marfan syndrome…”
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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel by A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera

Subjects: “…Marfan syndrome…”
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Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study by Gry Velvin, Heidi Johansen, Gunnbjørg Aune, Kerstin Fugl-Meyer, Amy Østertun Geirdal

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A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis by Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro

“…There was no family history of aortic diseases in the patient nor any specific clinical features suggestive of connective tissue diseases, such as Marfan syndrome. Genetic testing identified candidate causative variants in two different genes: MYLK (c.4819G > A, p.…”
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A 16-Year-Old Male with Thoracic Compression following Posterior Spinal Instrumentation and Fusion for Marfan-Associated Syndromic Scoliosis by Mason Uvodich, Ross Barman, Adam Reitz, Matthew Sexton

“…Introduction. Marfan syndrome is an autosomal dominant disorder caused by a mutation in the FBN1 gene which affects connective tissue. …”
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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly by Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi

“…We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. …”
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La construction de l’image du corps de l’élite égyptienne à l’époque amarnienne by Cathie Spieser, Pierre Sprumont

“…The most recent of these hypotheses concerned the Marfan syndrome. There are indeed some indications that the king suffered from hyperlaxity of the ligaments, a symptom frequently encountered in the Marfan symptomatology, but also existing as an isolated form. …”
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Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections by Marcelo Cury, Fernanda Zeidan, Armando C. Lobato

“…There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). …”
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Rescue Surgery 19 Years after Composite Root and Hemiarch Replacement by Konstantin von Aspern, Joerg Seeburger, Christian D. Etz, Matthias Sauer, Lukas Lehmkuhl, Martin Misfeld, Friedrich W. Mohr

“…A 59-year-old male patient with Marfan's syndrome was referred to our clinic due to acute chest pain. …”
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Ocular Manifestations in Patients with Sensorineural Hearing Loss by Haniah A. Zaheer, Deepika C Parameswarappa, Myra A. Zaheer, Jay Chhablani, Preeti Patil-Chhablani

“…In this article, a literature review was conducted to analyze the presentations of various diseases and syndromes, such as Alport Syndrome, Waardenburg Syndrome, Norrie Disease, Usher Disease, Stickler Syndrome, Marfan Syndrome, Congenital Rubella, and Hereditary Optic Neuropathies. …”
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Cardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination. by Anthony L Guerrerio, Allyson Mateja, Gretchen MacCarrick, Jonathan Fintzi, Erica Brittain, Pamela A Frischmeyer-Guerrerio, Harry C Dietz

“…We sought to determine whether individuals with an underlying vascular connective tissue disorder including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), or vascular Ehlers Danlos syndrome (vEDS) are at increased risk for cardiac events after COVID-19 infection or vaccination.…”
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Propensity score matching analysis of valve-sparing versus aortic root replacement in type A aortic dissection patients by Ling Chen, Yichao Pan, Huaijian Zhang, Yi Chen, Chunsheng Wang, Zhihuang Qiu, Heng Lu, Liangwan Chen

“…Multivariable analysis is identifying advanced age, high Body Mass Index (BMI), Marfan syndrome, severe aortic regurgitation, bicuspid aortic valve, increased aortic root diameter, and reduced aortic cross-clamp time (ACC) as significant factors associated with ARR. …”
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Radiological insights into fibromuscular dysplasia unveiled by intracranial aneurysms and iliac vein hypoplasia in suspected DVT by Abderrahmane Ibenyahia, MD, Oumaima Elkaddouri, MD, Mounir Salek, MD, Salma Boustani, MD, Soufiane Bigi, MD, Said Adnor, MD, Wassila Bouissar, MD, Soukaina Wakrim, MD

“…Differential diagnosis includes atherosclerotic aneurysms, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis type 1, and polyarteritis nodosa, which must be distinguished through comprehensive imaging and clinical evaluation. …”
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Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres by Rosario Caruso, Alessandro Pini, Gianluca Conte, Arianna Magon, Irene Baroni, Edward Callus, Nathasha Udugampolage, Jacopo Taurino, Alessandra Bassotti, Giada De Angeli, Giulia Paglione, Giuliana Trifirò

“…Objective This study investigates the prevalence and underlying factors of fatigue in individuals with Marfan syndrome (MFS) and hypermobile Ehlers-Danlos syndromes (hEDS), highlighting the necessity for focused research on this symptom within these patient populations.Design Cross-sectional, multicentre study.Setting Data were collected from participants diagnosed with MFS or hEDS across multiple healthcare centres.Participants The study enrolled 282 participants (127 with MFS and 155 with hEDS).Primary and secondary outcome measures Fatigue was measured using the Fatigue Severity Scale (FSS). …”
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Can smoking duration alone replace pack-years to predict the risk of smoking-related oncogenic mutations in non-small cell lung cancer? A cross-sectional study in Japan by Masahiko Ando, Yoshihiko Taniguchi, Akihiro Tamiya, Akihide Matsumura, Koichi Ogawa, Yasuhiro Koh, Hiroyasu Kaneda, Motohiro Izumi, Yoshiya Matsumoto, Kenji Sawa, Mitsuru Fukui, Naoki Yoshimoto, Akihito Kubo, Shun-ichi Isa, Hideo Saka, Tomoya Kawaguchi

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