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Marfan Syndrome
Marfan syndrome (MFS) is one of the most common inherited connective tissue disorders. It was first described in 1896 in a 5.5-year-old female...
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Marfan Syndrome
Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, involving the cardiovascular, ocular, and skeletal systems, as well as...
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Marfan Syndrome
Heritable thoracic aortic aneurism disease (HTAD) is a genetic disorder characterized by aortic disease and related conditions, and 20% of patients...
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Quality of life in young patients with acute type a aortic dissection in China: comparison with Marfan syndrome and non-Marfan syndrome
BackgroundThere is a paucity of Chinese studies evaluating the quality of life (QoL) in young acute type A aortic dissection (AAAD) patients with...
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Corneal biomechanics and their association with severity of lens dislocation in Marfan syndrome
PurposeTo investigate corneal biomechanical properties and its associations with the severity of lens dislocation in patients with Marfan syndrome.
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Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia
The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS...
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A successful case of deceased-donor liver transplantation from a donor with Marfan syndrome: a case report
BackgroundLiver transplantation is the definitive therapy for patients with decompensated cirrhosis. Marfan syndrome is a systemic inheritable...
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Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome
BackgroundMarfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research...
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Genetic Diseases Causing RRD: Marfan, Stickler and Wagner Syndrome
Pediatric rhegmatogenous retinal detachment (RRD) is an uncommon but serious event, with potential for permanent lifelong visual loss. Pediatric RRD...
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Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis
BackgroundThis study aims to analyze to what extent patients with Marfan syndrome (MFS) are affected by temporomandibular disorders (TMD) and its...
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Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain
Children with Marfan (MFS) and Loeys-Dietz syndrome (LDS) report limitations in physical activities, sports, school, leisure, and work participation...
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Musculoskeletal diseases in Marfan syndrome: a nationwide registry study
BackgroundMarfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio...
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Extracardiac Manifestations Fail to Predict the Severity of Cardiac Phenotype in Children and Young Adults with Marfan Syndrome
We performed a secondary analysis of the Pediatric Heart Network (PHN) Marfan Trial public-use database to evaluate associations between extracardiac...
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Cervical kyphosis correction in Marfan syndrome: our experience and literature review
BackgroundSpinal deformities are common in Marfan syndrome (MFS). They usually involve the thoraco-lumbar spine but rarely involves the cervical...
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Longitudinal follow-up by MR angiography reveals progressive dilatation of the distal aorta after aortic root replacement in Marfan syndrome
ObjectivesTo define and compare growth rates of the distal aorta in Marfan patients with and without aortic root replacement using serial MR...
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Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome
Fabry disease and Marfan syndrome are two distinct rare genetic disorders, each with intricate pathophysiologies, characterized by multi-organ...
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Challenges in prompt identification and surgical correction of Marfan Syndrome aortic disease in a middle-income country: a case series study
BackgroundMarfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta...
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A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is...
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Recurrent aneurysm 11 years after thoracoabdominal aortic replacement due to recanalization of intercostal arteries of the wrap** native aorta in Marfan syndrome: a case report
BackgroundPersistent blood flow is common in aortic aneurysms following endovascular repair. However, the recanalization of thrombosed intercostal...
