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Marfan Syndrome—Diagnosis and Management

Published on Jan 1, 2008in Current Problems in Cardiology3.333
· DOI :10.1016/j.cpcardiol.2007.10.001
Naser M. Ammash35
Estimated H-index: 35
(Mayo Clinic),
Thoralf M. Sundt97
Estimated H-index: 97
,
Heidi M. Connolly58
Estimated H-index: 58
Abstract
Abstract Marfan syndrome (MFS) is the most common inherited disorder of connective tissue that affects multiple organ systems. This autosomal-dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic testing is available, the diagnosis is still primarily made using the Ghent criteria. Early identification and appropriate management is critical for patients with MFS who are prone to the life-threatening cardiovascular complications of aortic dissection and rupture. Advances in the understanding of the cause of MFS, early recognition of the disorder, and subsequent institution of medical and surgical therapy has resulted in dramatic improvement in the prognosis of this patient population over the past few decades. Beta-blockers have been demonstrated to slow aortic growth and thus delay the time to aortic surgery. Operative intervention has markedly changed the prognosis of patients with MFS and can be safely performed on an elective basis. Identification of presymptomatic patients is critical to reduce the frequency of catastrophic aortic events.
  • References (87)
  • Citations (109)
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References87
Newest
#1Walter R. WilsonH-Index: 73
#2Kathryn A. TaubertH-Index: 67
Last. David T. DurackH-Index: 39
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Background— The purpose of this statement is to update the recommendations by the American Heart Association (AHA) for the prevention of infective endocarditis that were last published in 1997. Met...
1,304 CitationsSource
#1Walter R. WilsonH-Index: 7
#1Walter R. Wilson (Mayo Clinic)H-Index: 73
Last. David T. DurackH-Index: 39
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Background— The purpose of this statement is to update the recommendations by the American Heart Association (AHA) for the prevention of infective endocarditis that were last published in 1997. Methods and Results— A writing group was appointed by the AHA for their expertise in prevention and treatment of infective endocarditis, with liaison members representing the American Dental Association, the Infectious Diseases Society of America, and the American Academy of Pediatrics. The writing group ...
1,627 CitationsSource
Aortic root dilatation is the principal life-threatening complication in Marfan syndrome, leading to aortic regurgitation, dissection, and rupture. Beta blockade slows aortic dilatation in adults, but there has been no definitive evidence in children. Therefore, the evolution of aortic diameter at the level of the sinuses of Valsalva in 155 children (82 males, 73 females) aged
89 CitationsSource
6 CitationsSource
#1Rameen Beroukhim (Anschutz Medical Campus)H-Index: 100
#1Rebecca S. Beroukhim (Anschutz Medical Campus)H-Index: 9
Last. Anji T. Yetman (Anschutz Medical Campus)H-Index: 5
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Marfan’s syndrome (MS) and bicuspid aortic valves (BAVs) are associated with aortic dilation. Despite their histologic similarities, the 2 diseases differ with regard to the location of maximal aortic dilation. Echocardiographic analysis of aortic dimensions was performed in children with MS, children who had aortic dilation in the setting of nonstenotic BAVs (peak gradient
24 CitationsSource
#1Julie De Backer (Ghent University Hospital)H-Index: 37
#1De Backer J (Ghent University Hospital)H-Index: 1
Last. Johan De Sutter (Ghent University Hospital)H-Index: 34
view all 8 authors...
Abstract Background Cardiovascular involvement in Marfan syndrome is mainly characterized by progressive dilatation of the proximal aorta. Whether left ventricular dysfunction is present in these patients is not clear at present. Objectives Assess left ventricular function in patients with Marfan syndrome, free of significant valvular heart disease, using a combination of MRI and Tissue Doppler imaging (TDI). Methods and results A total of 26 Marfan patients (mean age=32.0±10.9, 12 men) without ...
81 CitationsSource
#1Peter A. Robinson (Charité)H-Index: 52
#1Peter N. Robinson (Charité)H-Index: 62
Last. Maurice Godfrey (UNMC: University of Nebraska Medical Center)H-Index: 26
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Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated individuals with MFS is acute aortic dissection, which often follows a period of progressive dilatation of the ascending aorta. Recent research on the molecular physiology of fibrillin and the pathophysiol...
264 CitationsSource
4 CitationsSource
#1Gonzalo Albornoz (Yale University)H-Index: 3
#2Michael A. Coady (Yale University)H-Index: 22
Last. John A. Elefteriades (Yale University)H-Index: 58
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Background We examined the genetic nature and phenotypic features of thoracic aortic aneurysms (TAAs) and dissections in a large cohort of patients. Methods Interviews were conducted with 520 patients with TAAs and their pedigrees were compiled to identify family members with aneurysms. Study patients were divided into three groups: 101 non-Marfan patients, in 88 pedigrees, had a family pattern for TAA (familial group), 369 had no family pattern (sporadic group), and 50 had Marfan syndrome (MFS)...
267 CitationsSource
#1Davide Pacini (UNIBO: University of Bologna)H-Index: 39
#2Fabrizio SettepaniH-Index: 12
Last. Roberto Di Bartolomeo (UNIBO: University of Bologna)H-Index: 44
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Background This study evaluates the midterm clinical results of valve-preserving aortic root reconstruction by means of a modified conduit incorporating sinuses of Valsalva. Methods During a 5-year period, 151 patients with aneurysm of the aortic root underwent a reimplantation type of valve-sparing procedure using the Gelweave Valsalva prosthesis that incorporates sinuses of Valsalva. There were 121 males (80.1%), and the mean age was 56.4 ± 14.4 years (range, 14 to 83). Fourteen percent of the...
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Cited By109
Newest
#1Gabriele Cervino (UNIME: University of Messina)H-Index: 17
#2Marco Cicciù (UNIME: University of Messina)H-Index: 29
Last. Luca Fiorillo (UNIME: University of Messina)H-Index: 17
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Abstract Introduction The role of this study is to highlight a correlation between patients with Marfan syndrome and oral health status by evaluating and reviewing the relevant scientific literature. The syndrome is characterized by an abnormal production of the fibrillin1 protein. The manifestations of Marfan syndrome affect organs that contain connective tissue such as the skeletal system, the eyes, the heart and the blood vessels, the lungs and the fibrous membranes that cover the brain and t...
Source
#1Cassandra Malecki (USYD: University of Sydney)H-Index: 1
#2Brett D. Hambly (USYD: University of Sydney)H-Index: 23
Last. Elizabeth N Robertson (USYD: University of Sydney)H-Index: 4
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It is well-established that variations of a CGG repeat expansion in the gene FMR1, which encodes the fragile-X mental retardation protein (FMRP), cause the neurocognitive disorder, fragile-X syndrome (FXS). However, multiple observations suggest a general and complex regulatory role of FMRP in processes outside the brain: (1) FMRP is ubiquitously expressed in the body, suggesting it functions in multiple organ systems; (2) patients with FXS can exhibit a physical phenotype that is consistent wit...
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#1Aideen M. McInerney-Leo (UQ: University of Queensland)H-Index: 21
#1Aideen McInerny-Leo (UQ: University of Queensland)H-Index: 1
Last. Emma L. Duncan (QUT: Queensland University of Technology)H-Index: 38
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Causal attributions are important determinants of how health threats are processed and affect health-related behaviours. To date, there has been no research on causal attributions in genetic conditions in Aboriginal Australians. Forty members of a large Aboriginal Australian family with Marfan syndrome (MFS) were invited to participate in an ethically approved study exploring causal attributions, including perceived causes of phenotypic variability within the family. Eighteen individuals consent...
Source
: Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-β signaling, in addition to impairing tissue integrity. The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagn...
Source
#2Erica RuraliH-Index: 5
Last. Patrizia NigroH-Index: 19
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: Background: Marfan syndrome (MFS) is a genetic disease, characterized by thoracic aortic aneurysm (TAA), which treatment is to date purely surgical. Understanding of novel molecular targets is mandatory to unveil effective pharmacological approaches. Cyclophilin A (CyPA) and its receptor EMMPRIN are associated with several cardiovascular diseases, including abdominal aortic aneurysm. Here, we envisioned the contribution of CyPA/EMMPRIN axis in MFS-related TAA. Methods: We obtained thoracic aor...
1 CitationsSource
#1Giuseppina Laganà (Sapienza University of Rome)H-Index: 8
Last. Paola Cozza (Sapienza University of Rome)H-Index: 26
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Background Aim of the study was to evaluate the gelatinolytic activity in the saliva and gingival crevicular fluid from a sample group of subjects with Marfan syndrome.
Source
Marfan syndrome (MFS) is an autosomal dominant connective disease etiologically related with FBN-1 gene mutation. The altered microfibril protein structure result in characteristic cardiovascular abnormalities including aortic root dilatation, aortic root aneurysms, and aortic dissections. Aortic root aneurysms and subsequent dissection are the major causes of reduced life expectancy in MFS patients. Prophylactic aortic root replacement has improved the survival of patients with MFS. Elective ro...
Source
#1Eline Overwater (VU: VU University Amsterdam)H-Index: 2
#2Rifka Efrat (VU: VU University Amsterdam)H-Index: 1
Last. Arjan C. HouwelingH-Index: 8
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BACKGROUND: Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic variants in FBN1 have been described. The aim of this report was to underline the clinical variability that can be associated with the pathogenic variant c.1453C>T, p.(Arg485Cys) in FBN1. METHODS: We provide the clinical details of...
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#1Serena Monteleone (UNIPV: University of Pavia)H-Index: 2
#2Lucia Feltroni (UNIPV: University of Pavia)H-Index: 1
Last. Marco Schieppati (International University, Cambodia)H-Index: 57
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Source
#1N. Inayet (St George's Hospital)H-Index: 1
#2J. O. Hayat (St George's Hospital)H-Index: 1
Last. Andrew Poullis (St George's Hospital)H-Index: 14
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Objective. Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. Recent studies have suggested an association between con...
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