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Marfan Syndrome—Diagnosis and Management

Published on Jan 1, 2008in Current Problems in Cardiology3.33
· DOI :10.1016/j.cpcardiol.2007.10.001
Naser M. Ammash31
Estimated H-index: 31
,
Thoralf M. Sundt92
Estimated H-index: 92
,
Heidi M. Connolly55
Estimated H-index: 55
Cite
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 (88)
  • Citations (115)
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References88
Newest
Published on Oct 9, 2007in Circulation23.05
Walter R. Wilson69
Estimated H-index: 69
,
Kathryn A. Taubert69
Estimated H-index: 69
+ 20 AuthorsRobert S. Baltimore36
Estimated H-index: 36
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 ...
Published on Feb 1, 2007in American Journal of Cardiology2.84
Magalie Ladouceur12
Estimated H-index: 12
,
Christophe Fermanian1
Estimated H-index: 1
+ 5 AuthorsGuillaume Jondeau51
Estimated H-index: 51
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
Published on Nov 16, 2006in The New England Journal of Medicine70.67
Eloisa Arbustini56
Estimated H-index: 56
,
Nicola Marziliano18
Estimated H-index: 18
,
Lorenzo Magrassi27
Estimated H-index: 27
Published on Oct 1, 2006in The Annals of Thoracic Surgery3.92
Gonzalo Albornoz3
Estimated H-index: 3
(Yale University),
Michael A. Coady23
Estimated H-index: 23
(Yale University)
+ 4 AuthorsJohn A. Elefteriades54
Estimated H-index: 54
(Yale University)
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)...
Published on Oct 1, 2006in International Journal of Cardiology3.47
De Backer J39
Estimated H-index: 39
(Ghent University Hospital),
Daniel Devos13
Estimated H-index: 13
(Ghent University Hospital)
+ 5 AuthorsJohan De Sutter29
Estimated H-index: 29
(Ghent University Hospital)
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 ...
Published on Oct 1, 2006in American Journal of Cardiology2.84
Rameen Beroukhim88
Estimated H-index: 88
(Anschutz Medical Campus),
Genie Roosevelt15
Estimated H-index: 15
(Anschutz Medical Campus),
Angela T Yetman8
Estimated H-index: 8
(Anschutz Medical Campus)
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
Published on Sep 1, 2006in The Annals of Thoracic Surgery3.92
Davide Pacini34
Estimated H-index: 34
(UNIBO: University of Bologna),
Fabrizio Settepani11
Estimated H-index: 11
+ 6 AuthorsRoberto Di Bartolomeo39
Estimated H-index: 39
(UNIBO: University of Bologna)
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...
Published on Aug 1, 2006in Circulation23.05
Robert O. Bonow127
Estimated H-index: 127
,
Blase A. Carabello61
Estimated H-index: 61
+ 7 AuthorsJack S. Shanewise26
Estimated H-index: 26
PREAMBLE......e4 APPENDIX 1......e121 APPENDIX 2......e122 APPENDIX 3......e124 REFERENCES......e124 It is important that the medical profession play a significant role in critically evaluating the use of diagnostic procedures and therapies as they are introduced in the detection, management,
Tirone E. David72
Estimated H-index: 72
(TGH: Toronto General Hospital),
Christopher M. Feindel46
Estimated H-index: 46
(TGH: Toronto General Hospital)
+ 3 AuthorsManjula Maganti26
Estimated H-index: 26
(TGH: Toronto General Hospital)
Objectives To examine the results of aortic valve sparing for aortic root aneurysm. Methods Two hundred twenty consecutive patients who had aortic valve sparing for aortic root aneurysm were prospectively studied with annual clinical assessments and echocardiography. Their mean age was 46 ± 15 years, 40% had Marfan syndrome, 17% had aortic dissection, and 7% had bicuspid aortic valve. Reimplantation of the aortic valve was performed in 167 patients and remodeling of the aortic root in 53. Aortic...
Cited By115
Newest
Published on Dec 1, 2019in BMC Oral Health2.05
Giuseppina Laganà6
Estimated H-index: 6
(Sapienza University of Rome),
Giovanni Francesco Fasciglione11
Estimated H-index: 11
+ 3 AuthorsPaola Cozza2
Estimated H-index: 2
(Sapienza University of Rome)
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.
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...
Published on Feb 1, 2019in Molecular Genetics & Genomic Medicine
Eline Overwater1
Estimated H-index: 1
(VU: VU University Amsterdam),
Rifka Efrat (VU: VU University Amsterdam)+ 5 AuthorsArjan C. Houweling7
Estimated H-index: 7
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...
Published on Dec 20, 2018
Serena Monteleone2
Estimated H-index: 2
(UNIPV: University of Pavia),
Lucia Feltroni (UNIPV: University of Pavia)+ 4 AuthorsMarco Schieppati2
Estimated H-index: 2
(International University, Cambodia)
Published on Aug 1, 2018in Pediatric Cardiology1.41
Veronika Stark4
Estimated H-index: 4
,
Michael Huemmer1
Estimated H-index: 1
+ 3 AuthorsThomas S. Mir14
Estimated H-index: 14
Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children. Due to the similarities in tissue composition of the aortic and...
Published on Jul 29, 2018in Gastroenterology Research and Practice1.82
N. Inayet (St George's Hospital), J. O. Hayat (St George's Hospital)+ 3 AuthorsA Poullis13
Estimated H-index: 13
(St George's Hospital)
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...
Published on Jan 1, 2018in Case reports in genetics
Ahmed N. Mohammad2
Estimated H-index: 2
(Mayo Clinic),
Haytham Helmi2
Estimated H-index: 2
(Mayo Clinic),
Paldeep S. Atwal7
Estimated H-index: 7
(Mayo Clinic)
We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. After repairing of his left popliteal artery aneurysm, he was sent for genetic evaluation. He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent FBN1 se...
Published on Jan 1, 2018in Oxidative Medicine and Cellular Longevity4.87
Maria Carolina Guido5
Estimated H-index: 5
(USP: University of São Paulo),
Victor Debbas11
Estimated H-index: 11
(USP: University of São Paulo)
+ 8 AuthorsLygia da Veiga Pereira21
Estimated H-index: 21
(USP: University of São Paulo)
Marfan syndrome (MFS) cardiovascular manifestations such as aortic aneurysms and cardiomyopathy carry substantial morbidity/mortality. We investigated the effects of lipoic acid, an antioxidant, on ROS production and aortic remodeling in a MFS mgΔloxPneo mouse model. MFS and WT (wild-type) 1-month-old mice were allocated to 3 groups: untreated, treated with losartan, and treated with lipoic acid. At 6 months old, echocardiography, ROS production, and morphological analysis of aortas were perform...
Published on Jan 1, 2018
Maria Florescu8
Estimated H-index: 8
,
Roxana O. Darabont , Dragos Vinereanu1
Estimated H-index: 1
Abstract Aortic diseases can become life-threatening conditions; therefore accurate imaging of the aorta has a major importance in clinical practice. Despite the advances represented by the most recently introduced techniques, such as computed tomography and magnetic resonance, echography remains essential for the detection of the aortic pathology and follow-up. It is rapid, cost-efficient, and with good accuracy. Meanwhile, it avoids irradiation and nephrotoxicity. Echography is mandatory for c...
Published on Dec 1, 2017in Journal of Cardiovascular Magnetic Resonance5.07
Julia Geiger14
Estimated H-index: 14
(NU: Northwestern University),
Daniel Hirtler8
Estimated H-index: 8
+ 5 AuthorsBrigitte Stiller5
Estimated H-index: 5
Background The aim of this 4D flow cardiovascular magnetic resonance (CMR) follow-up study was to investigate longitudinal changes in aortic hemodynamics in adolescent patients with Marfan syndrome (MFS).