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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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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