Marfan Syndrome (Marfan's Syndrome)

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

Also Known As:

Networked: 1272 relevant articles (20 outcomes, 88 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Aortic Aneurysm (Aneurysm, Aortic)
2.	Aneurysm (Aneurysms)
3.	Ectopia Lentis
4.	Thoracic Aortic Aneurysm
5.	Hypertension (High Blood Pressure)

Experts

1.	Dietz, Harry C: 34 articles (05/2015 - 04/2002)
2.	Ramirez, Francesco: 20 articles (11/2015 - 03/2003)
3.	Reinhardt, Dieter P: 16 articles (07/2015 - 12/2002)
4.	Milewicz, Dianna M: 14 articles (01/2014 - 01/2002)
5.	Boileau, Catherine: 13 articles (08/2015 - 04/2002)
6.	Robinson, Peter N: 13 articles (11/2014 - 09/2002)
7.	Judge, Daniel P: 11 articles (01/2015 - 07/2004)
8.	Groenink, Maarten: 10 articles (05/2015 - 07/2002)
9.	Mulder, Barbara J M: 10 articles (04/2015 - 07/2002)
10.	Hubmacher, Dirk: 9 articles (05/2015 - 10/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Marfan Syndrome:

1.	Losartan (Cozaar)FDA LinkGeneric 04/01/2015 - "Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome." 01/01/2014 - "This study examined the efficacy of anti-inflammatory therapies in attenuating aortic root dilation in Marfan syndrome and compared effects to the main preventative agent, losartan. " 12/01/2015 - "Despite the retrospective design of the study and the small sample size, a beneficial effect of losartan therapy was observed in pediatric patients with Marfan syndrome in the mid and long term. " 12/01/2015 - "The aim of our study was to establish whether losartan reduces aortic root dilatation rates in pediatric patients with Marfan syndrome in the mid and long term. " 01/01/2014 - "Further trials are clearly needed in order to assess optimal dosing and to guide timing of therapy, and also to further assess the potential and comparative effectiveness of both losartan and β-blockers, individually and in combination, as therapeutic treatments for aortic protection of different groups of patients with Marfan syndrome. "
2.	fibrillinIBA 06/01/2014 - "Pulmonary involvement is not generally considered a main feature of Marfan syndrome, an autosomal connective tissue disorder caused by mutations in fibrillin 1. Thanks to the substantial progress in treatments, life expectation of these patients has been dramatically improved determining changes in different organ systems. " 01/01/2015 - "The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). " 10/01/2010 - "These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome." 11/01/2009 - "The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population. " 03/01/2008 - "The aberrant fibrillin-1 staining observed in this study is similar to that observed in Marfan syndrome, a syndrome caused by mutations in the gene encoding fibrillin-1. "
3.	Atenolol (Tenormin)FDA LinkGeneric 08/01/2012 - "As atenolol slowed heart rate and delayed aortic wave travel, β-blockade may have a continuing role in the treatment of patients with Marfan syndrome." 10/01/2006 - "In 46 patients with Marfan syndrome (age, 17.4 +/- 11.1 years) and 46 healthy control subjects, ascending and descending aortic elastic parameters were determined noninvasively before and after 39 +/- 16 months of beta-blocker treatment with atenolol. " 06/01/1999 - "There was a heterogeneous response in the aortic root elastic properties after long-term treatment with atenolol in asymptomatic patients with Marfan syndrome. " 03/01/1995 - "Absorption pharmacokinetics of atenolol in patients with the Marfan syndrome." 03/01/1993 - "Aortic biomechanical properties in pediatric patients with the Marfan syndrome, and the effects of atenolol."
4.	AngiotensinsIBA 01/01/2013 - "Furthermore, treatment with an angiotensin receptor blocker has proven effective in reducing rates of thoracic aortic root dilatation in preliminary studies of Marfan syndrome patients. " 04/01/2012 - "Of the new pharmacological treatment strategies targeting aortic pathology in Marfan syndrome, angiotensin receptor type 1 blockers are promising candidates, with several clinical trials currently ongoing." 04/01/2015 - "Studies of mice with mild Marfan syndrome (MFS) have correlated the development of thoracic aortic aneurysm (TAA) with improper stimulation of noncanonical (Erk-mediated) TGFβ signaling by the angiotensin type I receptor (AT1r). " 05/01/2010 - "A recent study suggested that angiotensin-receptor blocking agents slow the development of aneurysm dilatation in Marfan syndrome. " 10/01/2012 - "A recent study that suggested that angiotensin receptor blocking agents slow the development of aneurysm dilatation in Marfan syndrome has revived interest in medical interventions to improve outcomes for patients with aortic aneurysm. "
5.	Transforming Growth Factor beta (TGF-beta)IBA 10/01/2014 - "Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P = 0.0035) and upregulation of the transforming growth factor beta pathway. " 01/01/2013 - "The role of transforming growth factor-beta in Marfan syndrome." 09/01/2011 - "However, the role of TGF-beta signaling pathway in the development of Marfan's syndrome has not been comprehensively investigated. " 07/01/2010 - "The biomedical importance of Marfan syndrome was recently underscored by the discovery that the underlying genetic lesion impairs both tissue integrity and transforming growth factor-beta regulation of cell behavior. " 03/01/2010 - "This article focuses on the pathophysiology of aortopathy in the Marfan syndrome and related diseases, with special emphasis on the role of transforming growth factor-beta in mediating the pathogenesis of this disease."
6.	DNA (Deoxyribonucleic Acid)IBA 10/01/2000 - "In this study, we performed segregation analysis of allelic DNA polymorphisms to support diagnosis of Marfan syndrome. " 07/01/2015 - "The results of direct DNA diagnostics in nine patients with Marfan syndrome, aged from two to 52 years old, and four unhealthy relatives with the same disease from two unrelated families have been presented for the first time in Russia. " 09/01/2009 - "This sequencing assay, which can also be used for the quantification of copy number variations (CNVs), methylations, mosaicisms, and DNA pools, enabled us to analyze transcripts of the FBN1 gene in fibroblasts and blood samples of patients with suspected Marfan syndrome not only qualitatively but also quantitatively. " 11/01/2008 - "DNA screening helps in the diagnosis of Marfan syndrome with unique phenotypes. " 11/01/1996 - "The in vitro fertilization technology coupled with the ability to amplify DNA from a single cell has been used for the preimplantation genetic diagnosis of Marfan syndrome. "
7.	Angiotensin IIIBA 10/03/2007 - "Large clinical trials are needed to assess the clinical benefit of angiotensin II blockade in Marfan syndrome. " 12/03/2015 - "Angiotensin II blockade in Marfan's syndrome. " 10/16/2008 - "Angiotensin II blockade in Marfan's syndrome." 10/16/2008 - "Angiotensin II blockade in Marfan's syndrome." 10/16/2008 - "Angiotensin II blockade in Marfan's syndrome."
8.	Doxycycline (Vibramycin)FDA LinkGeneric 01/01/2008 - "Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome." 07/01/2011 - "Pharmacological and genomic research has provided good evidence that therapy with losartan and doxycycline would prevent the aortic complications of Marfan syndrome. " 08/01/2010 - "Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome." 04/25/2008 - "We concluded that long-term treatment with doxycycline, through the inhibition of MMP-2 and -9, is more effective than atenolol in preventing TAA in Marfan syndrome by preserving elastic fiber integrity, normalizing vasomotor function, and reducing transforming growth factor-beta activation." 04/01/2012 - "Recent insights in the transforming growth factor beta signaling pathway and inflammatory mechanisms in a well-established mouse model of Marfan syndrome, have led to studies exploring new pharmacological treatment strategies with doxycycline, statins and angiotensin II receptor blockers. "
9.	Angiotensin IIBA 11/01/2011 - "The study for Marfan syndrome, which is caused by the increasing TGF-β signaling in aortic artery, indicates that the angiotensin I receptor antagonist, a drug already in clinical use for hypertension, inhibits TGF-β signaling and ameliorates the disease progression in model mouse as well as patients with Marfan syndrome. "
10.	Angiotensin Receptors (Angiotensin II Receptor)IBA 02/01/2014 - "Retrospective analysis of the effect of angiotensin II receptor blocker versus β-blocker on aortic root growth in paediatric patients with Marfan syndrome." 05/01/2010 - "Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome." 01/01/2013 - "Effect of angiotensin II receptor blocker on experimental periodontitis in a mouse model of Marfan syndrome." 11/01/2011 - "Administration of beta-blocker or angiotensin II receptor blocker (ARB) has been reported to prevent aneurysm enlargement in patients with Marfan's syndrome. " 03/01/2013 - "To assess the tolerability and efficacy of the investigational use of the angiotensin II receptor blocker losartan added to β-blockade (BB) to prevent progressive aortic root dilation in patients with Marfan syndrome (MFS). "

Therapies and Procedures

1.	Transplants (Transplant) 07/01/2014 - "Several recent studies have compared the clinical results of valve-sparing (VS) surgery and composite valve graft (CVG) surgery in the aortic root reconstruction of Marfan syndrome (MS) patients. " 05/01/2014 - "Database including Pubmed,Embase, Cochrane library, CNKI, Wanfang,VIP and CBM were searched to collect studies comparing clinical results of valve sparing surgery with composite valve graft surgery for patients with Marfan syndrome. " 06/27/1997 - "The aim of the study was to assess the long-term results of surgical treatment with homogenic aortic grafts (HAGs) implantation in patients with Marfan syndrome. " 05/01/2014 - "Valve sparing aortic root reconstruction surgery is a superior procedure to composite valve graft surgery in term of improving the short- and long-term prognosis for patients with Marfan syndrome." 04/01/2014 - "Among 1324 consecutive patients with aortic dissection type A, 74 with Marfan syndrome (58% men; median age, 37 years [first and third quartiles, 29 and 48 years]) underwent surgical repair (85% acute dissections; 68% DeBakey I; 55% composite valved graft, 30% supracoronary ascending replacement, 15% valve-sparing aortic root replacement; 12% total arch replacement; 3% in-hospital mortality) at 2 tertiary centers in the United States and Europe over the past 25 years. "
2.	Prostheses and Implants (Prosthesis) 01/01/1999 - "Five patients were reoperated on; three for patient-prosthesis mismatch, one for periprosthetic leak, and one for aortic dissection due to Marfan's syndrome. " 05/01/1980 - "The second child had mitral valve disease caused by Marfan's syndrome 1; the valve was initially replaced at the age of 3 years by a size 0 Starr-Edwards prosthesis. " 02/01/2007 - "The aim of this study was to evaluate the mid-term results of the reimplantation valve-sparing aortic root replacement using the Gelweave Valsalva prosthesis in Marfan syndrome patients. " 06/01/2012 - "Operative technique (remodeling, reimplantation), Marfan syndrome, bicuspid valve anatomy, concomitant central cusp plication, size of prosthesis used, and acute dissection were not associated with an increased risk of late aortic valve regurgitation grade II or greater or reoperation. " 02/01/2007 - "A retrospective review was performed of 35 patients with Marfan syndrome in four centers who underwent the reimplantation valve-sparing aortic root replacement using the Gelweave Valsalva prosthesis. "
3.	Palatal Expansion Technique 12/01/2015 - "Evaluation of the effects of rapid maxillary expansion and mandibular advancement using Propulsor Universal Light appliance on the upper airways in Marfan's syndrome children through home sleep studies, Epworth Sleepiness Scale questionnaire, and cephalometric analysis of the upper airways on lateral radiographs. " 12/01/2015 - "Effects of rapid maxillary expansion and mandibular advancement on upper airways in Marfan's syndrome children: a home sleep study and cephalometric evaluation." 01/01/2014 - "The condition is reversible and rapid maxillary expansion and adequate continuous positive airway pressure therapy are possible effective therapies to delay the expansion of aortic diameter in patients with Marfan's syndrome. " 12/01/2015 - "Early rapid maxillary expansion and mandibular advancement using Propulsor Universal Light appliance significantly improved airway patency of Marfan's syndrome children and are strongly encouraged as a routine treatment for both correction of class II malocclusions and prevention of obstructive sleep apnea."
4.	Mandibular Advancement 12/01/2015 - "Evaluation of the effects of rapid maxillary expansion and mandibular advancement using Propulsor Universal Light appliance on the upper airways in Marfan's syndrome children through home sleep studies, Epworth Sleepiness Scale questionnaire, and cephalometric analysis of the upper airways on lateral radiographs. " 12/01/2015 - "Effects of rapid maxillary expansion and mandibular advancement on upper airways in Marfan's syndrome children: a home sleep study and cephalometric evaluation." 12/01/2015 - "Early rapid maxillary expansion and mandibular advancement using Propulsor Universal Light appliance significantly improved airway patency of Marfan's syndrome children and are strongly encouraged as a routine treatment for both correction of class II malocclusions and prevention of obstructive sleep apnea."
5.	Lenses 01/01/1998 - "Pars plana vitreolensectomy is a safe and effective treatment for subluxed lenses in patients with Marfan's syndrome. " 05/01/2014 - "The posterior implantation technique of aphakic iris-claw IOL provided good visual outcomes with a favorable complication rate and can be used as a reasonable alternative in subluxated lenses due to Marfan syndrome without adequate capsular support." 08/01/2009 - "The anchor was successfully implanted in 2 patients with traumatic subluxated lenses and 2 patients with Marfan syndrome. " 01/01/2006 - "Retrospective study of a small case series comprised of seven eyes (two children and three adults) with subluxated lenses due to Marfan syndrome that underwent lens extraction and Artisan aphakic IOL implantation. " 06/01/2005 - "The management of subluxed crystalline lenses in patients with Marfan syndrome is challenging and may require lensectomy. "