Marfan syndrome is an autosomal-dominant genetic disorder that affects connective tissues. Diagnosis is based on genetic history as well as major and minor clinical criteria. This article presents a case of Marfan syndrome, emphasizing the clinical manifestations of the disease, and provides an overview of oral management. Knowledge of the etiopathologic and clinical aspects of this condition is essential to providing dental treatment aimed at improving the quality of life of affected individuals.
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Marfan syndrome: insights from animal models.
Front 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 PDFPrognostic analysis of acute type A aortic dissection after different surgical interventions: a cohort study.
J 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 PDFHuman stem cell models for Marfan syndrome: a .
Front 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.
View Article and Find Full Text PDFIntroduction: The pathogenic role of nitric oxide (NO) signaling during development of thoracic aortic aneurysm (TAA) in Marfan syndrome (MFS) is currently unclear. We characterized vasomotor function and its relationship to the activity of the NO-generating enzymes in mice with early onset progressively severe MFS.
Methods: Wire myography, immunoblotting, measurements of aortic NO and superoxide levels were used to compare vasomotor function, contractile-protein levels, and the activity of endothelial and inducible NO synthase (eNOS and iNOS, respectively) in ascending thoracic aortas of Fbn1mgR/mgR mice relative to wild type (WT) littermates.
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