Ann Thorac Surg 2008;86:335-336. doi:10.1016/j.athoracsur.2006.10.023
© 2008 The Society of Thoracic Surgeons
Key References
Marfan Syndrome and Related Disorders
Reed E. Pyeritz, MD, PhD*
Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
* Address correspondence to Dr Pyeritz, Division of Medical Genetics, Hospital of the University of Pennsylvania, Maloney 538, 3400 Spruce St, Philadelphia, PA 19104 (Email: reed.pyeritz{at}uphs.upenn.edu).
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Historical
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- 1 Baer RW, Taussing HB, Oppenheimer EH. Congenital aneurysmal dilatation of the aorta associated with arachnodactyly. Bull Johns Hopkins Hosp 1943;72:309–31
- 2 Bentall HH, De Bono A. A technique for complete replacement of the ascending aorta. Thorax 1968;23:338–9.
- 3 Crawford ES. Marfan's syndrome: Broad spectral surgical treatment of cardiovascular manifestations. Ann Surg 1983;198:487–505.
- 4 Crawford ES, Crawford JL, Stowe CL, et al. Total aortic replacement for chronic aortic dissection occurring in patients with and without Marfan's syndrome. Ann Surg 1984;199:358–62.
- 5 Etter LE, Glover LP. Arachnodactyly complicated by dislocated lens and death from rupture of dissecting aneurysm of the aorta. JAMA 1943;123:88–9.
- 6 Karrer HE. The fine structure of connective tissue in the tunicapropria of bronchioles. J Ultrastruct Res 1958;2:96-121.
- 7 McKusick VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation 1955;11:321–41.
- 8 Marfan AB. Un cas de déformation congènital des quatre membres plus pronouncée aux extrémitiés charactérisée par I' allongement des os avec un certain degré d'amonassesment. Bull Mem Soc Med Hop (Paris) 1986;13:220–6.
- 9 Murdoch JL, Walker BA, Halpern BL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804–8.
- 10 Murdoch JL, Walker BA, McKusick VA. Paternal age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet 1972;35:331–6.
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Diagnosis
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- 11 De Paepe A, Deitz HC, Devereux RB, et al. Revised diagnostic criteria for the Marfan syndrome and related conditions. Am J Med Genet 1996;62:417–26
- 12 Glesby M, Pyeritz R. Association of mitral valve prolapse and systemic abnormalities of connective tissue. JAMA 1989;262:523–8.
- 13 Hasham SN, Willing MC, Guo DC, et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 2003;107:3184-90.
- 14 Loeys B, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81.
- 15 Nicod P, Bloor C, Godfrey M, et al. Familial aortic dissecting aneurysms. J Am Coll Cardiol 1989;13:811–9.
- 16 Vaughan CJ, Casey M, He J, et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 2001;103:2469-75.
- 17 Yuan B, Thomas JP, von Kodolitsch Y, Pyeritz RE. Comparison of heteroduplex analysis, direct sequencing and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. Hum Mutation 1999;14:440–6.
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Management of Cardiovascular Features
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- 18 Arn PH, Scherer LR, Haller JA Jr, Pyeritz RE. Clinical outcomes of pectus excavatum in the Marfan syndrome and in the general population. J Pediatr 1989;115:954–8
- 19 Badmanaban B, Mallon P, Campbell N, Sarsam MAI. Repair of left coronary artery aneurysm, recurrent ascending aortic aneurysm, and mitral valve prolapse 19 years after Bentall's procedure in a patient with Marfan syndrome. J Card Surg 2004;19:59-61.
- 20 Bethea BT, Fitton TP, Alejo DE, et al. Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients. Ann Thorac Surg 2004;78:767-72.
- 21 Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC III. Angiotensin II-receptor blockade for slowing aortic-root dilation in Marfan's syndrome. N Engl J Med 2008;358:in press.
- 22 Borst HG, Bühner B, Jurmann M. Tactics and techniques of aortic arch replacement. J Cardiac Surg 1994;9:538–47.
- 23 Chatrath R, Beauchesne LM, Connolly HM, et al. Left ventricular function in the Marfan syndrome without significant valvular regurgitation. Am J Cardiol 2003;91:914-6.
- 24 David TE. Aortic valve sparing operations. Ann Thorac Surg 2002;73:1029-30.
- 25 David TE, Omran A, Ivanov J, et al. Dilation of the pulmonary autograft after the Ross procedure. J Thorac Cardiovasc Surg 2000;119:210-20.
- 26 Gillinov AM, Hulyalkar A, Cameron DE, et al. Mitral valve operation in patients with the Marfan syndrome. J Thorac Cardiovasc Surg 1994;107:724–31.
- 27 Gott VL, Greene PS, Alejo DE, et al. Surgery for ascending aortic disease in Marfan patients: a multi-center study. N Engl J Med 1999;340:1307–13.
- 28 Groenink M, de Roos A, Mulder BJM, et al. Biophysical properties of the normal-sized aorta in patient with Marfan syndrome: evaluation with MR flow mapping. Radiology 2001;219:535-40.
- 29 Jannuzzi JL, Isselbacher EM, Fattori R, et al. Characterizing the young patient with arotic dissection: results from the international registry of aortic dissection (IRAD). J Am Coll Cardiol 2001;43:665-9.
- 30 Karck M, Kallenbach K, Hagl C, et al. Arotic root surgery in Marfan syndrome: comparison of aortic valve-sparing reimplantation versus composite grafting. J Thorac Cardiovasc Surg 2004;127:391-8.
- 31 Kazui T, Yamashita K, Terada H, et al. Late reoperation for proximal aortic and arch complications after previous composite graft replacement in Marfan patients. Ann Thorac Surg 2003;76:1203-8.
- 32 Keane MG, Pyeritz RE. Medical management of the Marfan syndrome. Circulation 2008;117:2802–13.
- 33 Kesler KA, Hanosh JJ, O'Donnell J, et al. Heart transplantation in patients with Marfan's syndrome: a survey of attitudes and results. J Heart Lung Transplant 1994;13:899–904.
- 34 Kim SY, Martin N, Hsia EC, Pyeritz RE, Albert DA. Management of aortic disease in Marfan syndrome: a decision analysis. Arch Intern Med 2005;165:749-55.
- 35 Lacro RV, Dietz HC, Wruck LM, et al. Rationale and design of a randomized clinical trial of beta blocker therapy (atenolol) vs. angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;154:624–31.
- 36 Loeys BL, Schwarze U, Holm T, et al. Presentation, natural history and management of aneurysm syndromes caused by mutations in TGFBR1 or TGFBR2 encoding for transforming growth factor-β receptors. N Engl J Med 2006;355:788–98.
- 37 Maron BJ, Chaitman BR, Ackerman MJ, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 2004;109:2807-16.
- 38 Massimo CG, Wang ZG, Cruz Guadron EA et al. Endoluminal replacement of the entire aorta for acute type a aortic dissection in a patient with Marfan syndrome. J Thorac Cardiovasc Surg 2000;120:818-20.
- 39 Meijboom LJ, Nollen GJ, Merchant N, et al. Frequency of coronary ostial aneurysms after aortic root surgery in patients with the Marfan syndrome. Am J Cardiol 2002;89:1135-8.
- 40 Miller DC. Valve-sparing aortic root replacement in patients with the Marfan syndrome. J Thorac Cardiovasc Surg 2003;125:773-8.
- 41 Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of Marfan syndrome in infants. Pediatrics 1990;86:888–95.
- 42 Nollen GJ, van Schijndel KE, Timmermans J, et al. Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion. Heart 2002;87:470-1.
- 43 Pyeritz RE. Small-molecule for a large disorder. N Engl J Med 2008;358:in press.
- 44 Pyeritz RE, Wappel MA. Mitral valve dysfunction in the Marfan syndrome. Am J Med 1983;74:797–807.
- 45 Rios AS, Silber EN, Bavishi N et al. Effect of long-term β-blockade on aortic root compliance in patients with Marfan syndrome. Am Heart J 1999;137:1057–61.
- 46 Rossiter JP, Repke JT, Morales AJ, Murphy EA, Pyeritz RE. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol 1995;173:1599–606.
- 47 Salim MA, Alpert BS, Ward JC, Pyeritz RE. The effect of beta-adrenergic blockade on aortic root rate of enlargement in patients with the Marfan syndrome. Am J Cardiol 1994;74:629–33.
- 48 Shores J, Berger KR, Murphy EA, Pyeritz RE. Chronic β-adrenergic blockade protects the aorta in the Marfan syndrome: a prospective, randomized trial of propranolol. N Engl J Med 1994;330:1335–41.
- 49 Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol 1995;75:157–60.
- 50 Soulen RL, Fishman E, Pyeritz RE, et al. Evaluation of the Marfan syndrome: MR imaging versus CT. Radiology 1987;165:697–701.
- 51 Svensson LG, Kim KH, Blackstone EH, et al. Elephant trunk procedure: newer indications and uses. Ann Thorac Surg 2004;78:109-16.
- 52 Tagusari O, Ogino H, Kobayashi J, et al. Should the transverse aortic arch be replaced simultaneously with aortic root replacement for annuloaortic ectasia in Marfan syndrome? J Thorac Cardiovasc Surg 2004;127:1373-80.
- 53 Williams GM. Treatment of chronic expanding dissecting aneurysms of the descending thoracic and upper abdominal aorta by extended aortotomy, removal of the dissected intima, and closure. J Vasc Surg 1993;18:441–9.
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Cause and Pathogenesis
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- 54 Akhurst RJ. TGFβ signaling in health and disease. Nat Genet 2004;36:790-2.
- 55 Bunton TE, Biery NJ, Myers L, et al. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res 2001;88:37–43.
- 56 Byers PH. Determination of the molecular basis of Marfan syndrome: a growth industry. J Clin Invest 2004;114:161-3.
- 57 Collod-Beroud G, Le Bourdelles S, Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003;22:199-208.
- 58 Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337–9.
- 59 Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-21.
- 60 Judge DP, Biery NJ, Keene DR, et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 2004;114:172-81.
- 61 Loeys B, De Backer J, Van Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004;24:140-6.
- 62 Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nature Genet 2003;33:407-11.
- 63 Ng CM, Cheng A, Myers LA, et al. TGFβ-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004;114:1586-92.
- 64 Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986;103:2499–509.
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Delineation and Management of Other Features of Marfan Syndrome
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- 65 Carter N, Duncan E, Wordsworth P. Bone mineral density in adults with Marfan syndrome. Rheumatology 2000;39:307-9
- 66 Chow K, Pyeritz RE, Litt HI. Abdominal visceral findings in patients with Marfan syndrome. Genet Med 2007;9:208–12.
- 67 Cistulli PA, Gotsopoulos H, Sullivan CE. Relationship between craniofacial abnormalities and sleep-disordered breathing in Marfan's syndrome. Chest 2001;120:1455-60.
- 68 Davenport RJ, Chataway SJS, Warlow CP. Spontaneous intracranial hypotension from a CSF leak in a patient with Marfan's syndrome. J Neruol Neurosurg Psych 1995;59:516–9.
- 69 Erkula G, Jones KB, Sponseller PD, et al. Growth and maturation in Marfan syndrome. 2002;109:100-5.
- 70 Foran JRH, Pyeritz RE, Dietz HC, et al. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet 2005;134:58-65.
- 71 Grahame R, Pyeritz RE. Marfan syndrome: joint and skin manifestations are prevalent and correlated. Br J Rheumatol 1995;34:126–31.
- 72 Hall J, Pyeritz RE, Dudgeon DL, Haller JA Jr. Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg 1984;37:500–4.
- 73 Herzaka A, Sponseller PD, Pyeritz RE. Atlantoaxial rotatory subluxation in patients with Marfan syndrome. Spine 2000;25:524–6.
- 74 Jones KB, Erkula G, Sponseller PD, Dormans JP. Spine deformity correction in Marfan syndrome. Spine 2002;27:2003-12.
- 75 Lipton GE, Guille JT, Kumar SJ. Surgical treatment of scoliosis in Marfan syndrome: guidelines for a successful outcome. J Pediatr Orthop 2002;22:302-7.
- 76 Peters KF, Horne R, Kong F, et al. Living with Marfan syndrome I. Perceptions of the condition. Clin Genet 2001;60:273-82.
- 77 Peters KF, Horne R, Kong F, et al. Living with Marfan syndrome II. Medication adherence and physical activity modification. Clin Genet 2001;60:283-92.
- 78 Pyeritz RE. Maternal and fetal complications of pregnancy in the Marfan syndrome. Am J Med 1981;71:784–90.
- 79 Pyeritz RE. The Marfan syndrome. Ann Rev Med 2000;51:481–510.
- 80 Pyeritz RE, Fishman EK, Bernhardt A, Siegelman S. Dural ectasia is a common pleiotropic feature of the Marfan syndrome. Am J Hum Genet 1988;43:726–32.
- 81 Streeten EA, Murphy EA, Pyeritz RE. Pulmonary function in the Marfan syndrome. Chest 1987;91:408–12.
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Historical
Diagnosis