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The authors report on the assessment of an anthropogenic mummy of a young man from the Capuchin Catacombs of Palermo, Sicily, tentatively dated from the mid- to late 19 century AD. The mummy was investigated by full-body CT examination. CT images clearly showed aortic dissection classified as Stanford-A. Due to the relation of aortic dissection to inherited connective tissue diseases in young people, such as Marfan syndrome, conspicuous and pathological findings possibly indicating the presence of underlying Marfan syndrome were assessed. Several systemic features were scored that supported the presence of underlying Marfan syndrome in this mummy. These findings were: pectus carinatum and chest asymmetry, dural ectasia, protrusio acetabuli, dolichocephaly, down-slanting palpebral fissures, malar hypoplasia and (probable) reduced elbow extension. Aortic dissection, a cardinal feature of Marfan syndrome, turned out to be the diagnostic key for the paleoradiological diagnosis of this disease. The demonstrated CT findings contribute to the spectrum of cardiovascular diseases and inherited connective tissue disease in the fields of paleopathology and paleoradiology.
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http://dx.doi.org/10.1016/j.ijpp.2018.05.002 | DOI Listing |
Drug Des Devel Ther
September 2025
Key Laboratory for Genetic Disease in Sichuan Province, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, People's Republic of China.
Marfan syndrome (MFS) is a hereditary connective tissue disorder that is primarily caused by mutations in the fibrillin-1 () gene. This disease predominantly affects the eyes, bones, and cardiovascular system, with cardiovascular complications posing the most significant threat to life. Currently, conventional treatments, which are based on pharmacological management and surgical interventions, aim to slow disease progression and manage life-threatening cardiovascular complications.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
September 2025
Department of Cardiovascular Surgery, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
The David procedure has been extensively studied as an elective treatment when valve anatomy and function permit valve-sparing aortic root replacement. This approach is particularly beneficial in young patients who also require mitral valve repair and treatment for mitral annular disjunction. This video tutorial provides a step-by-step guide to the David V procedure in a female patient with Marfan syndrome, presenting with an aortic root aneurysm, severe mitral regurgitation and mitral annular disjunction.
View Article and Find Full Text PDFMicroPubl Biol
August 2025
Biomedical Sciences, Southern Illinois University Carbondale, Carbondale, Illinois, United States.
Marfan Syndrome (MFS) is an autosomal dominant genetic disorder that affects connective tissue throughout the body due to mutations in the fibrillin-1 ( gene. There is a gap in our understanding of the impact of monogenic connective tissue aberrations on the brain. This study aimed to determine the impact of MFS on neurodegeneration in the cortical brain tissue of mice.
View Article and Find Full Text PDFDisabil Rehabil
September 2025
TRS National Resource Centre for Rare Disorders, Department of Innovation and Research, Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Purpose: Stickler syndrome is a rare, hereditary connective tissue disorder characterized by visual, auditory, and musculoskeletal complications. Research on quality of life remains limited. This study aimed to: (i) explore existing literature on psychosocial aspects, pain, fatigue, and quality of life in individuals with Stickler syndrome, (ii) describe the impact of health complaints on daily living, contacts with healthcare- and social service systems and quality of life in a cohort of adults with Stickler syndrome.
View Article and Find Full Text PDFEur J Cardiothorac Surg
September 2025
Institute of Biomedical Engineering, University of Toronto, Toronto, Canada.
Objectives: How Marfan syndrome (MFS) translates to alterations in ex vivo biomechanical properties of aortic tissue is not well defined. We aimed to characterize the biomechanical properties of the aortic root and ascending aorta in MFS, and compare them to properties of normal, dissected, and non-MFS aneurysmal aortas.
Methods: Biaxial tensile and delamination testing were performed on aortic tissue from patients with MFS (root = 10, ascending = 6), aneurysms with bicuspid aortic valves (BAVs) (root = 19, ascending = 88), aneurysms with tricuspid aortic valves (root = 25, ascending = 90), type A dissections (ascending = 17), and normal aortas (root = 12, ascending = 28).