marfan syndrome

Summary

Summary: 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.

Top Publications

  1. Shrestha M, Baraki H, Maeding I, Fitzner S, Sarikouch S, Khaladj N, et al. Long-term results after aortic valve-sparing operation (David I). Eur J Cardiothorac Surg. 2012;41:56-61; discussion 61-2 pubmed publisher
    ..Median age was 57 (8-83) years and 46 (36.5%) were female. As many as 26 (20.6%) had Marfan syndrome, 21 (16.7%) had acute aortic dissection type A (AADA) and 67 (53.2%) had additional procedures...
  2. Zhang L, Gao L, Zhang M, Zhou X. Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study. Mol Vis. 2012;18:55-63 pubmed
    Transforming growth factor beta receptor II (TGFBR2) gene mutations are associated with Marfan syndrome; however, the relationship between the mutations and clinical phenotypes are not clear...
  3. Ferruzzi J, Collins M, Yeh A, Humphrey J. Mechanical assessment of elastin integrity in fibrillin-1-deficient carotid arteries: implications for Marfan syndrome. Cardiovasc Res. 2011;92:287-95 pubmed publisher
    ..some aspects of ageing-related changes in the overall mechanical properties of arteries in mouse models of Marfan syndrome, we sought to assess for the first time the load-carrying capability of the elastic fibres early in maturity, ..
  4. Benedetto U, Melina G, Takkenberg J, Roscitano A, Angeloni E, Sinatra R. Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysis. Heart. 2011;97:955-8 pubmed publisher
    Surgical treatment of aortic root aneurysm in Marfan syndrome (MFS) patients. To compare results of total root replacement versus valve-sparing aortic root replacement in MFS patients...
  5. Rand Hendriksen S, Johansen H, Semb S, Geiran O, Stanghelle J, Finset A. Health-related quality of life in Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis. Genet Med. 2010;12:517-24 pubmed publisher
    To explore health-related quality of life as measured with Short Form 36 in adults with verified Marfan syndrome and to compare with the general population, other groups with chronic problems and studies on Marfan syndrome...
  6. Groenink M, den Hartog A, Franken R, Radonic T, De Waard V, Timmermans J, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013;34:3491-500 pubmed publisher
    Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation...
  7. Yetman A, McCrindle B. The prevalence and clinical impact of obesity in adults with Marfan syndrome. Can J Cardiol. 2010;26:137-9 pubmed
    Patients with Marfan syndrome characteristically have an asthenic body habitus and are considered to be exempt from the obesity epidemic.
  8. Laffargue F, Lienhardt Roussie A, Lacombe D, Delrue M. [Clinical signs of Marfan syndrome in children under 10 years of age]. Arch Pediatr. 2013;20:1193-200 pubmed publisher
    Diagnosing Marfan syndrome in young children is difficult because of the great variability of expression of the disease and because the phenotype evolves over the life course...
  9. Williams A, Kenny D, Wilson D, Fagenello G, Nelson M, Dunstan F, et al. Effects of atenolol, perindopril and verapamil on haemodynamic and vascular function in Marfan syndrome - a randomised, double-blind, crossover trial. Eur J Clin Invest. 2012;42:891-9 pubmed publisher
    Aortic dilatation is the main therapeutic target in patients with Marfan syndrome. Standard treatment with a ?-blocker may not lower central pulse pressure - the major objective - because it does not do so in hypertension, unlike ..

More Information

Publications71

  1. Detaint D, Faivre L, Collod Beroud G, Child A, Loeys B, Binquet C, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010;31:2223-9 pubmed publisher
    In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease...
  2. Thakur V, Rankin K, Hartling L, Mackie A. A systematic review of the pharmacological management of aortic root dilation in Marfan syndrome. Cardiol Young. 2013;23:568-81 pubmed publisher
    b>Marfan syndrome causes aortic dilation leading to dissection and death...
  3. Bernhardt A, Treede H, Rybczynski M, Sheikzadeh S, Kersten J, Meinertz T, et al. Comparison of aortic root replacement in patients with Marfan syndrome. Eur J Cardiothorac Surg. 2011;40:1052-7 pubmed publisher
  4. Scherptong R, Vliegen H, van der Wall E, Hilhorst Hofstee Y, Bax J, Scholte A, et al. Biventricular performance in patients with marfan syndrome without significant valvular disease: comparison to normal subjects and longitudinal follow-up. J Am Soc Echocardiogr. 2011;24:1392-1399.e1 pubmed publisher
    The presence and progressive nature of primary myocardial involvement in Marfan syndrome are debated...
  5. Dyhdalo K, Farver C. Pulmonary histologic changes in Marfan syndrome: a case series and literature review. Am J Clin Pathol. 2011;136:857-63 pubmed publisher
    b>Marfan syndrome is one of the most common connective tissue diseases and may manifest with a range of symptoms and pathologic changes. We present a retrospective series of 5 cases of patients with Marfan syndrome and pulmonary pathology...
  6. Gomez D, Coyet A, Ollivier V, Jeunemaitre X, Jondeau G, Michel J, et al. Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms. Cardiovasc Res. 2011;89:446-56 pubmed publisher
    ..These features are present in all types of TAA: monogenic forms [mainly Marfan syndrome (MFS)], forms associated with bicuspid aortic valve (BAV), and degenerative forms...
  7. Kahveci G, Erkol A, Yilmaz F. Dilated cardiomyopathy in a patient with Marfan syndrome accompanied by chronic type A aortic dissection and right atrial thrombus. Intern Med. 2010;49:2583-6 pubmed
    ..This report clearly highlights the importance of close cardiovascular follow-up in patients with MFS...
  8. Roll K. The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan Syndrome. Health Policy. 2012;105:119-27 pubmed publisher
    ..influence of the regional availability of health care resources (measured by physician densities, number of health care centers) on health care quality (measured by delay in diagnosis), based on data for the rare disease Marfan Syndrome.
  9. Katsuragi S, Ueda K, Yamanaka K, Neki R, Kamiya C, Sasaki Y, et al. Pregnancy-associated aortic dilatation or dissection in Japanese women with Marfan syndrome. Circ J. 2011;75:2545-51 pubmed
    ..The purpose of the present study was to investigate risk factors for aortic dilatation or dissection in pregnant Japanese women with Marfan syndrome.
  10. Nistala H, Lee Arteaga S, Carta L, Cook J, Smaldone S, Siciliano G, et al. Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome. Hum Mol Genet. 2010;19:4790-8 pubmed publisher
    ..density (osteopenia) is a poorly characterized manifestation of pediatric and adult patients afflicted with Marfan syndrome (MFS), a multisystem disorder caused by structural or quantitative defects in fibrillin-1 that perturb tissue ..
  11. Lacro R, Guey L, Dietz H, Pearson G, Yetman A, Gelb B, et al. Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. Am Heart J. 2013;165:828-835.e3 pubmed publisher
    ..to compare aortic root growth and other short-term cardiovascular outcomes in children and young adults with Marfan syndrome randomized to receive atenolol or losartan...
  12. LeMaire S, McDonald M, Guo D, Russell L, Miller C, Johnson R, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011;43:996-1000 pubmed publisher
    ..FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21...
  13. Teixeira L, Lezirovitz K, Mandelbaum K, Pereira L, Perez A. Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome. Braz J Med Biol Res. 2011;44:793-800 pubmed
    b>Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability...
  14. DiMario C, Pepper J, Golesworthy T, Treasure T. External aortic root support for the Marfan aorta: anatomically normal coronary orifices imaged seven years after surgery. Interact Cardiovasc Thorac Surg. 2012;15:528-30 pubmed publisher
    ..He is one of a consecutive series of 30 patients who have had this device. There have been no device-related events in over 100 patient/years of follow-up, and all the patients remain alive and well...
  15. Maski K, Sengupta S, Silvera M, Rivkin M. Intracranial artery dissection in an adolescent with Marfan syndrome. Pediatr Neurol. 2011;45:39-41 pubmed publisher
    b>Marfan syndrome is an autosomal dominant connective tissue disorder commonly due to mutation of the fibrillin-1 (FBN-1) gene that causes disruption of elastic fibers in large- and medium-size arteries and predisposes to aneurysm ..
  16. Hilhorst Hofstee Y, Hamel B, Verheij J, Rijlaarsdam M, Mancini G, Cobben J, et al. The clinical spectrum of complete FBN1 allele deletions. Eur J Hum Genet. 2011;19:247-52 pubmed publisher
    ..Seven patients fulfilled the Ghent criteria for Marfan syndrome (MFS)...
  17. Le Goff C, Mahaut C, Wang L, Allali S, Abhyankar A, Jensen S, et al. Mutations in the TGF? binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011;89:7-14 pubmed publisher
    ..we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly...
  18. Boileau C, Guo D, Hanna N, Regalado E, Detaint D, Gong L, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012;44:916-21 pubmed publisher
  19. Lebreiro A, Martins E, Cruz C, Almeida J, Maciel M, Cardoso J, et al. Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy. Rev Port Cardiol. 2010;29:1021-36 pubmed
    b>Marfan Syndrome (MFS) is a genetic disorder of the connective tissue with multisystemic manifestations, which typically involves the skeletal, cardiovascular and ocular systems...
  20. Schoenhoff F, Jungi S, Czerny M, Roost E, Reineke D, Matyas G, et al. Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation. 2013;127:1569-75 pubmed publisher
    The aim of the current study was to investigate incidence and causes of surgical interventions in primarily nontreated aortic segments after previous aortic repair in patients with Marfan syndrome.
  21. Judge D, Rouf R, Habashi J, Dietz H. Mitral valve disease in Marfan syndrome and related disorders. J Cardiovasc Transl Res. 2011;4:741-7 pubmed publisher
    b>Marfan syndrome (MFS) is a systemic disorder of the connective tissue with pleiotropic manifestations due to heterozygous FBN1 mutations and consequent upregulation of TGF? signaling in affected tissues...
  22. Sheikhzadeh S, Kade C, Keyser B, Stuhrmann M, Arslan Kirchner M, Rybczynski M, et al. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome. Clin Genet. 2012;82:240-7 pubmed publisher
    b>Marfan syndrome is considered a clinical diagnosis...
  23. Merk D, Chin J, Dake B, Maegdefessel L, Miller M, Kimura N, et al. miR-29b participates in early aneurysm development in Marfan syndrome. Circ Res. 2012;110:312-24 pubmed publisher
    b>Marfan syndrome (MFS) is a systemic connective tissue disorder notable for the development of aortic root aneurysms and the subsequent life-threatening complications of aortic dissection and rupture...
  24. de Witte P, Aalberts J, Radonic T, Timmermans J, Scholte A, Zwinderman A, et al. Intrinsic biventricular dysfunction in Marfan syndrome. Heart. 2011;97:2063-8 pubmed publisher
    b>Marfan syndrome (MFS) is an autosomal, dominantly inherited, connective tissue disorder usually caused by a mutation in the fibrillin-1 gene (FBN1)...
  25. Meng B, Li H, Yang T, Huang S, Sun X, Yuan H. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. Mol Vis. 2011;17:2421-7 pubmed
    To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
  26. Cipriano G, Brech G, Peres P, Mendes C, Cipriano G, Carvalho A. Anthropometric and musculoskeletal assessment of patients with Marfan syndrome. Rev Bras Fisioter. 2011;15:291-6 pubmed
    b>Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems...
  27. Guo G, Gehle P, Doelken S, Martin Ventura J, von Kodolitsch Y, Hetzer R, et al. Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS ONE. 2011;6:e20138 pubmed publisher
    b>Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations...
  28. Loeys B, Dietz H, Braverman A, Callewaert B, De Backer J, Devereux R, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476-85 pubmed publisher
    The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management ..
  29. Suda N, Moriyama K, Ganburged G. Effect of angiotensin II receptor blocker on experimental periodontitis in a mouse model of Marfan syndrome. Infect Immun. 2013;81:182-8 pubmed publisher
    b>Marfan syndrome is an autosomal dominant disease characterized by aneurysm and dilatation of the aortic root, tall stature, and ectopia lentis. These manifestations reflect excessive signaling of transforming growth factor beta (TGF-?)...
  30. Benke K, Agg B, Szilveszter B, Tarr F, Nagy Z, Pólos M, et al. The role of transforming growth factor-beta in Marfan syndrome. Cardiol J. 2013;20:227-34 pubmed publisher
    The starting point, in Marfan syndrome (MFS) appears to be the mutation of fibrillin-1 gene whose deconstructed protein product cannot bind transforming growth factor beta (TGF-b), leading to an increased TGF-b tissue level...
  31. Hao P, Tang X, Song H, Wang L, Wang Y, Ying M, et al. [Screening of FBN1 gene mutations in a family with Marfan syndrome]. Zhonghua Yan Ke Za Zhi. 2010;46:984-8 pubmed
    To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.
  32. Loeys B, Mortier G, Dietz H. Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short. Pediatr Endocrinol Rev. 2013;10 Suppl 2:417-23 pubmed
    ..2) In this review, we will discuss the clinical, molecular, and pathogenic aspects of Marfan syndrome, Loeys-Dietz syndrome and related disorders with emphasis on the role of fibrillins and TGF-beta.
  33. Rybczynski M, Koschyk D, Karmeier A, Gessler N, Sheikhzadeh S, Bernhardt A, et al. Frequency of sleep apnea in adults with the Marfan syndrome. Am J Cardiol. 2010;105:1836-41 pubmed publisher
    ..Younger adults with Marfan syndrome may also be at risk for sleep apnea, but the relation between cardiovascular complications and sleep apnea is ..
  34. Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, et al. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A. 2013;161A:3057-62 pubmed publisher
    ..Although their phenotype was distinct from that of classic Marfan syndrome, they all had a truncating mutation in the penultimate exon, i.e...
  35. Summers K, Raza S, van Nimwegen E, Freeman T, Hume D. Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome. Eur J Hum Genet. 2010;18:1209-15 pubmed publisher
    Mutations in the human FBN1 gene cause Marfan syndrome, a complex disease affecting connective tissues but with a highly variable phenotype...
  36. Zhao F, Pan X, Zhao K, Zhao C. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Mol Vis. 2013;19:751-8 pubmed
    To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes.
  37. Hirano T, Matsuhashi T, Kobayashi N, Watanabe T, Sugimoto Y. Identification of an FBN1 mutation in bovine Marfan syndrome-like disease. Anim Genet. 2012;43:11-7 pubmed publisher
    Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause Marfan syndrome (MFS)...
  38. Holm T, Habashi J, Doyle J, Bedja D, Chen Y, Van Erp C, et al. Noncanonical TGF? signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science. 2011;332:358-61 pubmed publisher
    Transforming growth factor-? (TGF?) signaling drives aneurysm progression in multiple disorders, including Marfan syndrome (MFS), and therapies that inhibit this signaling cascade are in clinical trials...
  39. Dormand H, Mohiaddin R. Cardiovascular magnetic resonance in Marfan syndrome. J Cardiovasc Magn Reson. 2013;15:33 pubmed publisher
    This review provides an overview of Marfan syndrome with an emphasis on cardiovascular complications and cardiovascular imaging. Both pre- and post-operative imaging is addressed with an explanation of surgical management...
  40. Pepper J, John Chan K, Gavino J, Golesworthy T, Mohiaddin R, Treasure T. External aortic root support for Marfan syndrome: early clinical results in the first 20 recipients with a bespoke implant. J R Soc Med. 2010;103:370-5 pubmed publisher
    Fatal aortic dissection occurs at young age in Marfan syndrome. Prevention relies on elective replacement of the aortic root...
  41. Radonic T, de Witte P, Groenink M, De Waard V, Lutter R, van Eijk M, et al. Inflammation aggravates disease severity in Marfan syndrome patients. PLoS ONE. 2012;7:e32963 pubmed publisher
    b>Marfan syndrome (MFS) is a pleiotropic genetic disorder with major features in cardiovascular, ocular and skeletal systems, associated with large clinical variability. Numerous studies reveal an involvement of TGF-? signaling...
  42. Cabanelas N, Nobre A, Guerra N, Gallego J, Ferreira R, Carvalheiro C, et al. [Images in cardiology after clinical observation - aortic dissection in Marfan syndrome]. Rev Port Cardiol. 2011;30:735-41 pubmed publisher
    ..Stanford type A aortic dissection is a rare phenomenon with high short-term mortality and clinical manifestations that can make differential diagnosis a lengthy process requiring several diagnostic examinations...
  43. Micheal S, Khan M, Akhtar F, Weiss M, Islam F, Ali M, et al. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Mol Vis. 2012;18:1918-26 pubmed
    To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS).
  44. Chiu H, Wu M, Wang J, Lu C, Chiu S, Chen C, et al. Losartan added to ?-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study. Mayo Clin Proc. 2013;88:271-6 pubmed publisher
    To assess the tolerability and efficacy of the investigational use of the angiotensin II receptor blocker losartan added to ?-blockade (BB) to prevent progressive aortic root dilation in patients with Marfan syndrome (MFS).
  45. Kuchtey J, Chang T, Panagis L, Kuchtey R. Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma. Am J Med Genet A. 2013;161A:880-3 pubmed publisher
    Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils...
  46. Rybczynski M, Treede H, Sheikhzadeh S, Groene E, Bernhardt A, Hillebrand M, et al. Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol. 2011;107:268-74 pubmed publisher
    ..are used in idiopathic mitral valve prolapse for the timing of surgery, but such predictors are unknown in Marfan syndrome. Therefore, a population-based cohort study of 112 patients (49 male, 63 female; mean age 34 ± 15 years) ..
  47. Kiotsekoglou A, Moggridge J, Saha S, Kapetanakis V, Govindan M, Alpendurada F, et al. Assessment of aortic stiffness in marfan syndrome using two-dimensional and Doppler echocardiography. Echocardiography. 2011;28:29-37 pubmed publisher
    Extracellular matrix remodeling in the aortic wall results in increased aortic stiffness (AoS) in Marfan syndrome (MFS). Pulsed-wave velocity (PWV) constitutes the best indirect AoS measurement...
  48. Forteza A, Evangelista A, Sanchez V, Teixidó G, Garcia D, Sanz P, et al. [Study of the efficacy and safety of losartan versus atenolol for aortic dilation in patients with Marfan syndrome]. Rev Esp Cardiol. 2011;64:492-8 pubmed publisher
    b>Marfan syndrome is an inherited disease of the connective tissue. Recent trials have indicated the use of losartan (a transforming growth factor beta inhibitor) in these patients prevents aortic root enlargement...
  49. Charbonneau N, Carlson E, Tufa S, Sengle G, Manalo E, Carlberg V, et al. In vivo studies of mutant fibrillin-1 microfibrils. J Biol Chem. 2010;285:24943-55 pubmed publisher
    ..While most of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to clinical features unrelated to Marfan syndrome...
  50. Hartog A, Franken R, Zwinderman A, Groenink M, Mulder B. Current and future pharmacological treatment strategies with regard to aortic disease in Marfan syndrome. Expert Opin Pharmacother. 2012;13:647-62 pubmed publisher
    b>Marfan syndrome is a multisystemic connective tissue disorder caused mainly by mutations in the fibrillin-1 gene. The entire cardiovascular system is affected in patients with Marfan syndrome...
  51. Dong J, Bu J, Du W, Li Y, Jia Y, Li J, et al. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family. Mol Vis. 2012;18:81-6 pubmed
    Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
  52. Sun L, Li M, Zhu J, Liu Y, Chang Q, Zheng J, et al. Surgery for patients with Marfan syndrome with type A dissection involving the aortic arch using total arch replacement combined with stented elephant trunk implantation: the acute versus the chronic. J Thorac Cardiovasc Surg. 2011;142:e85-91 pubmed publisher
    The optimal surgical repair for patients with Marfan syndrome with type A dissection involving the aortic arch is controversial...
  53. Jondeau G, Michel J, Boileau C. The translational science of Marfan syndrome. Heart. 2011;97:1206-14 pubmed publisher
    b>Marfan syndrome has changed over the last few years: new diagnostic criteria have been proposed, new clinical entities recognised and life expectancy increased...
  54. Habashi J, Doyle J, Holm T, Aziz H, Schoenhoff F, Bedja D, et al. Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science. 2011;332:361-5 pubmed publisher
    ..show that loss of AT2 expression accelerates the aberrant growth and rupture of the aorta in a mouse model of Marfan syndrome (MFS)...
  55. Grover M, Brunetti Pierri N, Belmont J, Phan K, Tran A, Shypailo R, et al. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012;158A:2221-4 pubmed publisher
    b>Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with skeletal involvement...
  56. Xiong W, Meisinger T, Knispel R, Worth J, Baxter B. MMP-2 regulates Erk1/2 phosphorylation and aortic dilatation in Marfan syndrome. Circ Res. 2012;110:e92-e101 pubmed publisher
    Aneurysm and dissection of the ascending thoracic aorta are the main cardiovascular complications of Marfan syndrome (MFS) resulting in premature death...
  57. Graul Neumann L, Kienitz T, Robinson P, Baasanjav S, Karow B, Gillessen Kaesbach G, et al. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet A. 2010;152A:2749-55 pubmed publisher
    ..25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, ..
  58. Lima B, Santos E, Fernandes G, Merkel C, Mello M, Gomes J, et al. A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression. PLoS ONE. 2010;5:e14136 pubmed publisher
    b>Marfan syndrome is an autosomal dominant disease of connective tissue caused by mutations in the fibrillin-1 encoding gene FBN1...
  59. Lapp T, Birnbaum F, Evert M, Reinhard T, Auw Hädrich C. [Corneal tumour following anterior chamber lens implantation in a patient with Marfan syndrome. Case study of a 57-year-old patient]. Ophthalmologe. 2012;109:155-60 pubmed publisher
    A 57-year-old male patient with Marfan syndrome presented at our clinic with a whitish gelatinous corneal tumour in the right eye...
  60. Thakkar S, Foran J, Mears S, Sponseller P. Protrusio acetabuli and total hip arthroplasty in patients with Marfan syndrome. J Arthroplasty. 2012;27:776-82 pubmed publisher
    Our goals were (1) to quantify protrusio acetabuli in patients with Marfan syndrome who underwent total hip arthroplasty and (2) to identify clinical results and complications associated with total hip arthroplasty in those patients...
  61. Ogawa N, Imai Y, Takahashi Y, Nawata K, Hara K, Nishimura H, et al. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Am J Cardiol. 2011;108:1801-7 pubmed publisher
    b>Marfan syndrome (MS) is an inherited connective tissue disorder, and detailed evaluations of multiple organ systems are required for its diagnosis...
  62. Summers K, West J, Hattam A, Stark D, McGill J, West M. Recent developments in the diagnosis of Marfan syndrome and related disorders. Med J Aust. 2012;197:494-7 pubmed
    b>Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15...