We report a case of Marfan syndrome (MFS) in a South African patient, which is extraordinary because of the large constellation of clinical, radiological and vascular anomalies in a single patient. A literature search from 1950 to date did not show a similar report of such extensive clinical characteristics of MFS.
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http://dx.doi.org/10.11604/pamj.2018.30.171.14363 | DOI Listing |
Radiol Case Rep
March 2025
Radiology Department, University Hospital Center of Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr Agadir University, Agadir, Morocco.
Fibromuscular Dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disorder predominantly affecting women aged 18 to 65 years. This case report highlights a 74-year-old female diagnosed with FMD incidentally during evaluation for deep vein thrombosis (DVT). Imaging revealed significant vascular anomalies, including a giant intracranial carotid aneurysm and a hypoplastic iliac vein with extensive collateral formation.
View Article and Find Full Text PDFFront Genet
January 2025
Sichuan Provincial Key Laboratory for Genetic Disease, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome. The fibrillin-1 gene () is a major gene involved in the pathogenesis of MFS.
View Article and Find Full Text PDFJ Thorac Dis
December 2024
Department of Cardiovascular Surgery, Beijing Anzhen Hospital, Capital Medical University, and Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, China.
Background: Acute type A aortic dissection (ATAAD) requires emergency surgery, but the choice of primary surgery remains controversial. It is believed that simple ascending aorta replacement may lead to higher postoperative survival rate, while the Sun procedure [frozen elephant trunk (FET) + total arch replacement (TAR)] performed in the first stage may obtain better long-term results. The study aimed to compare the outcome of ATAAD patients who underwent the Sun procedure with those without TAR + FET.
View Article and Find Full Text PDFFront Cell Dev Biol
January 2025
Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
The introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish. This promising avenue has also been applied to model Marfan syndrome, a disease affecting multiple organ systems, including the skeletal and cardiovascular system. Marfan syndrome is caused by pathogenic variants in , the gene encoding for the extracellular matrix protein fibrillin-1 which ensembles into microfibrils.
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