Marfan syndrome: clinical diagnosis and management

Dean, John

doi:10.1038/sj.ejhg.5201851

Cited by 283 publications

(234 citation statements)

References 72 publications

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“…2 Mutations in FBN1 are associated with a wide phenotypic spectrum ranging from classic features of Marfan syndrome presenting in childhood and early adulthood to severe neonatal presentation with rapidly progressive disease. At the other end of the spectrum, isolated phenotypic features, such as ectopia lentis or skeletal manifestations alone, may be the only presenting signs.…”

Section: Introductionmentioning

confidence: 99%

Health Supervision for Children With Marfan Syndrome

Tinkle¹,

Saal²,

Saul³

et al. 2013

Pediatrics

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Section: Introductionmentioning

confidence: 99%

Health Supervision for Children With Marfan Syndrome

Tinkle¹,

Saal²,

Saul³

et al. 2013

Pediatrics

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“…MARFAN SYNDROME (MFS) is a genetic disorder of the connective tissue, which mainly affects the cardiovascular system, the skeleton, dural sac, eyes, and lungs (1,2). Mutations of the fibrillin 1 and transforming growth factor genes are responsible for the disease (3,4).…”

mentioning

confidence: 99%

Aortic flow patterns in patients with Marfan syndrome assessed by flow‐sensitive four‐dimensional MRI

Geiger

Markl

Herzer

et al. 2011

Magnetic Resonance Imaging

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Purpose: To apply time-resolved three-dimensional (3D) phase contrast MRI with three-directional velocity encoding (flow-sensitive 4D MRI) for the characterization of flow pattern changes in patients with Marfan syndrome (MFS) compared with normal controls.Materials and Methods: Flow-sensitive 4D MRI of the thoracic aorta (temporal resolution $45 ms, spatial resolution $2.4 Â 2.1 Â 2.8 mm 3 ) was performed in 24 MFS patients and 10 volunteers. Aortic flow patterns were visualized by 3D particle traces and streamlines. Global (affecting the complete lumen) and local (parts of the vessel lumen) helix and vortex flow in the ascending aorta (AAo), aortic arch, and descending aorta (DAo) were graded in 3 categories (blinded reading, two observers): none ¼ 0, moderate ¼ 1, pronounced ¼ 2.Results: Flow grading revealed similar global helix and vortex flow in the AAo and arch for MFS patients and controls. Local helix flow in the AAo was significantly (P ¼ 0.011) increased in patients and was associated with aortic sinus dilatation. The incidence of global helix and vortex flow in the DAo was increased in patients (77% and 50% of subjects) compared with controls (none and 10%). Conclusion:The 4D flow analysis revealed marked differences of the aortic flow patterns between Marfan patients and controls: Local helix flow in the patients' AAo may be associated with the increased incidence of aortic root dilatation. The flow alterations in the proximal DAo could explain the occurrence of Type-B dissection originating from this site.

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“…A tall, thin body habitus, long limbs, arachnodactyly, pectus deformities and sometimes scoliosis with a positive family history in a young individual may be suggestive of a diagnosis of Marfan's syndrome. 27 Aortograms may show a dilated aortic root (Figure 1), or diffuse aneurysmal dilation of the ascending aorta in severe cases, 26 There may be intimal flaps in the presence of aortic dissection. 28 In the early years, aortography demonstrated aortic dilation and aortic regurgitation, but this may occasionally miss the diagnosis of aortic dissection.…”

Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

Marfan's syndrome: an overview

Yuan

Hua

2010

Sao Paulo Med. J.

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Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. RESUMOSíndrome de Marfan é uma condição autossômica dominante com prevalência estimada de 1 em 10.000 a 20.000 indivíduos. É uma rara desordem hereditária do tecido conjuntivo que afeta muitas partes do corpo. O diagnóstico da síndrome de Marfan é feito de acordo com uma revisão dos critérios diagnósticos conhecida como a nosologia Ghent, por meio de uma avaliação abrangente, em grande parte baseada em uma combinação de pequenas e grandes manifestações clínicas em vários sistemas de órgãos e na história familiar. Dilatação da raiz aórtica e prolapso da valva mitral são as principais apresentações entre as malformações cardiovasculares da síndrome de Marfan. A patogênese da síndrome de Marfan não foi totalmente esclarecida, mas acredita-se que mutações genéticas de fibrillina-1 exercem um efeito negativo dominante.Portanto, a síndrome de Marfan é denominada como fibrilinopatia, juntamente com outras desordens do tecido conectivo, com sutis diferenças nas manifestações clínicas. O tratamento pode incluir β-bloqueadores profiláticos e bloqueadores dos receptores da angiotensina II, a fim de retardar a dilatação da aorta ascendente e cirurgia profilática da aorta. De importância, a terapia com β-bloqueadores pode reduzir a ativação de TGF-β, que foi reconhecido como um fator contribuinte da síndrome de Marfan. O presente artigo visa proporcionar uma visão global desta rara desordem de hereditariedade.

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Marfan syndrome: clinical diagnosis and management

Cited by 283 publications

References 72 publications

Health Supervision for Children With Marfan Syndrome

Health Supervision for Children With Marfan Syndrome

Aortic flow patterns in patients with Marfan syndrome assessed by flow‐sensitive four‐dimensional MRI

Marfan's syndrome: an overview

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