GENETICS/DIAGNOSIS

A syndrome of altered cardiovascular, cranofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Loeys BL, et al.  2005  Nat Genet 37:275-281.

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
Ng CM et al. 2004 J Clin Invest 114:1586-1592. 

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
Judge DP et al. 2004 J Clin Invest 114:172-181.

Determination of the molecular basis of Marfan syndrome: a growth industry
Byers P.  2004  J Clin Invest 114:2-4.

Dysregulation of TGF-B activation contributes to pathogenesis in Marfan Syndrome
Neptune E et al.  2003 Nat Genet 33:407-411.

Fibrillin controls TGF-B activiation
Kaartinen V and Warburton D. 2003 Nat Genet 33:331-332.

A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome
Rose PS, Levy HP, Ahn NU, Sponseller PD, Magyari T, Davis J, Francomano CA. Genet Med. 2000 2:278-282 Abstract

Health supervision for children with Marfan syndrome
American Academy of Pediatrics Committee on Genetics. Pediatrics 1998 98:978-982.

Revised Diagnositic Criteria for the Marfan syndrome
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE Am J Med Genet 1996 62:417-426. Abstract; Full Text

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Nature 1991 352:337-339 Abstract

GENERAL MANAGEMENT

ACC/AHA Guidelines for the Management of Patients With Valvular Heart Disease: Management in Pregnancy
ACC/AHA Task Force Report  1998 JACC  32:1486-1588. Bonow et. al.  ACC/AHA Guideline

Health Supervision For Children With Marfan Syndrome Guidelines designed to assist the pediatrician in caring for children with the Marfan syndrome confirmed by clinical criteria
American Academy of Pediatrics: 1996 Pediatrics  98:978-982 Full Text, pdf file. 

Life Expectancy in the Marfan Syndrome.  Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P.  1995 Am J Cardiol  75:157-160 Abstract

Judge DP and Dietz HC.  Marfan's Syndrome.  2005 Lancet 366:1965-1976. Abstract
 

ORTHOPEDIC MANAGEMENT

Characterization of the symptoms associated with dural ectasia in the Marfan patient
Foran JR, Pyeritz RE, Dietz HC Sponseller PD.  Am J Med Genet A 2005  134:58-65.

Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome.
Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD.  Spine. 2005  30:291-293.

Growth and Maturation in Marfan Syndrome
Erkula G, Jones KB, Sponseller PD, Dietz HC, and Pyeritz, R. Am J Med Genet 2002 109:110-115 Abstract

A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome
Rose PS, Levy HP, Ahn NU, Sponseller PD, Magyari T, Davis J, Francomano CA.Genet Med. 2000 2:278-282 Abstract

CARDIOVASCULAR MANAGEMENT

Management of Aortic Disease in Marfan Syndrome:  A Decision Analysis
Kim SY, et al.  Arch Intern Med. 2005: 165:749-755.

Thoracic and Abdominal Aortic Aneurysms
Isselbacher EM Circulation 2005 111:816-828.

Treatment of Aortic Disease in Patients with Marfan Syndrome
Milewicz DM, Dietz HC, and Miller CD. Circulation 2005:  111:e150-e157.

Approach to the Dilated Aortic Root
Boyer JK, Gutierrez F and Braverman AC.  Curr Opin Cardiol  2004  19:563-569.

Timing of aortic surgery in the Marfan syndrome
Braverman A.  Curr Opin Cardiol. 2004 19:549-50.

Results of surgery for aortic root aneurysm in patients with Marfan syndrome
De Oliveira NC, David TE, Ivanov J, Armstrong S, Eriksson MJ, Rakowski H, Webb G. J Thorac Cardiovasc Surg 2003 125:789-96. Abstract

Valve-Sparing Aortic Root Replacement In Patients With The Marfan Syndrome
Miller, Craig D. J Thorac Cardiovasc Surg 2003:125:773-778.

Aortic Root Replacement in 271 Marfan Patients: A 24-Year Experience
Gott V, Cameron DE, Alejo DE, Green PS, Shake JG, Caparrelli DJ, and Dietz HC. Ann Thorac Surg 2002 73:438-443. Abstract

Diagnosis and Management of Aortic Dissection
Erbel R, Alfonso F, Boileau C, Dirsch O, Eber B, Haverich A, Rakowski H, Struyven J, Radegran K, Sechtem U, Taylor J, Zollikofer C, Klein WW, Mulder B, Providencia LA. Eur Heart J 2001 18:1642-81. Guideline

Protective Effects of Propranolol in Marfan Syndrome
Pyeritz, R. Cardiol Board Review 1995 12:12-19.

Two Dimensional Echocardiographic Aortic Root Dimensions in Normal Children and Adults. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J, Spitzer M, and Robins J. Am J Cardiol 1989 64:507-512 Abstract