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Liu WO , Oefner PJ , Qian C , Odom RS , Francke U . Denaturing HPLC-identified novel FBN1 mutations, polymorphisms and sequence variants in Marfan Syndrome and related connective tissue disorders. Genet Test 1997-98; 1(4):237-42.
Collod-Beroud G , Beroud C , Ades L , Black C , Boxer M , Brock DJ , Holman KJ , de Paepe A , Francke U , Grau U , Hayward C , Klein HG , Liu W , Nuytinck L , Peltonen L , Alvarez Perez AB , Rantamaki T , Junien C , Boileau C . Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998 Jan 1; 26(1):229-3.
Schrijver I , Liu W , Francke U . The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan Syndrome and aortic aneurysm, or clinically innocent? Hum Genet 1997 May; 99(5):607-11.
Liu W , Faraco J , Qian C , Francke U . The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan Syndrome. Hum Genet 1997 May; 99(5):578-84. ]
Liu W , Qian C , Francke U . Silent mutation causes exon skipping of FBN1 gene in Marfan Syndrome. Nat Genet 1997; 16:328-9.
Liu W , Qian C , Comeau K , Brenn T , Furthmayr H , Francke U . Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. Hum Mol Genet 1996 Oct; 5(10):1581-7
Sinel'shchikova TA, Semiachkina AN, Zasukhina GD.
[DNA repair and antioxidant defence in the repair-deficient human cells (Marfan's Syndrome) after gamma-irradiation]
Radiats Biol Radioecol. 2005 Mar-Apr;45(2):145-8. Russian.
PMID: 15906854 [PubMed - indexed for MEDLINE]
Yetman AT, Bornemeier RA, McCrindle BW.
Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan Syndrome.
Am J Cardiol. 2005 May 1;95(9):1125-7.
PMID: 15842990 [PubMed - indexed for MEDLINE]
Maron BJ, Ackerman MJ, Nishimura RA, Pyeritz RE, Towbin JA, Udelson JE.
Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan Syndrome.
J Am Coll Cardiol. 2005 Apr 19;45(8):1340-5. Review. No abstract available.
PMID: 15837284 [PubMed - indexed for MEDLINE]
Kim SY, Martin N, Hsia EC, Pyeritz RE, Albert DA.
Management of aortic disease in Marfan Syndrome: a decision analysis.
Arch Intern Med. 2005 Apr 11;165(7):749-55.
PMID: 15824293 [PubMed - indexed for MEDLINE]
Nursing considerations for people with Marfan Syndrome.
Nurs Times. 2005 Mar 22-28;101(12):32-5. Review.
PMID: 15822708 [PubMed - indexed for MEDLINE]
Baumgartner D, Baumgartner C, Matyas G, Steinmann B, Loffler-Ragg J, Schermer E, Schweigmann U, Baldissera I, Frischhut B, Hess J, Hammerer I..
Diagnostic power of aortic elastic properties in young patients with Marfan Syndrome.
J Thorac Cardiovasc Surg. 2005 Apr;129(4):730-9.
PMID: 15821637 [PubMed - indexed for MEDLINE]
Immer FF, Althaus SM, Berdat PA, Saner H, Carrel TP.
Quality of life and specific problems after cardiac surgery in adolescents and adults with congenital heart diseases.
Eur J Cardiovasc Prev Rehabil. 2005 Apr;12(2):138-43.
PMID: 15785299 [PubMed - in process]
Meijboom LJ, Timmermans J, van Tintelen JP, Nollen GJ, De Backer J, van den Berg MP, Boers GH, Mulder BJ.
Evaluation of left ventricular dimensions and function in Marfan's Syndrome without significant valvular regurgitation.
Am J Cardiol. 2005 Mar 15;95(6):795-7.
PMID: 15757617 [PubMed - indexed for MEDLINE]
Anttila V, Piaszczynski M, Mora B, Hagino I, Lacro RV, Zurakowski D, Jonas RA.
Improved outcome with composite graft versus homograft root replacement for children with aortic root aneurysms.
Eur J Cardiothorac Surg. 2005 Mar;27(3):420-4. Epub 2005 Jan 23.
PMID: 15740950 [PubMed - indexed for MEDLINE]
Finlay M, Laperriere N, Bristow RG.
Radiotherapy and Marfan Syndrome: a report of two cases.
Clin Oncol (R Coll Radiol). 2005 Feb;17(1):54-6.
PMID: 15714930 [PubMed - indexed for MEDLINE]
Krasemann T, Kotthoff S, Kehl HG, Debus V, Tjan TD, Schmid C, Vogt J, Scheld HH.
Cardiac transplantation in neonatal Marfan Syndrome -- a life-saving approach.
Thorac Cardiovasc Surg. 2005 Feb;53 Suppl 2:S146-8.
PMID: 15704038 [PubMed - indexed for MEDLINE]
Ince H, Rehders TC, Petzsch M, Kische S, Nienaber CA.
Stent-grafts in patients with marfan syndrome.
J Endovasc Ther. 2005 Feb;12(1):82-8.
PMID: 15683276 [PubMed - indexed for MEDLINE]
Iguchi A, Saiki Y, Oda K, Tabayashi K.
Results of aortic surgery in patients with Marfan Syndrome.
Surg Today. 2005;35(2):106-11.
PMID: 15674489 [PubMed - indexed for MEDLINE]
van Dijk N, Immink RV, Mulder BJ, van Lieshout JJ, Wieling W.
Orthostatic blood pressure control in Marfan's Syndrome.
Europace. 2005 Jan;7(1):25-7.
PMID: 15670963 [PubMed - indexed for MEDLINE]
Aortic elastic properties in athletes with Marfanoid habitus: the need for early and accurate diagnostic methods.
Eur Heart J. 2005 Jan;26(1):100; author reply 100-1. Epub 2004 Nov 30. No abstract available.
PMID: 15615807 [PubMed - indexed for MEDLINE]
Genetic and Hereditary Aspects of the Marfan Syndrome
1. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. Marfan Syndrome Caused by a Recurrent de novo Missense Mutation in the Fibrillin Gene. Nature 352: 337-339; 1991.
This paper describes the identification of the first mutation in the fibrillin-1 gene in an individual with Marfan Syndrome. This work set the stage for the development of molecular genetic testing for Marfan Syndrome.
2. Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC, A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome. N Engl J Med; 331: 148-153, 1994.
This work describes the methods and reagents needed to perform prenatal or presymtomatic molecular testing in families with Marfan Syndrome by linkage analysis.
3. Nijbroek G, Sood S. McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen Novel FBN1 Mutations Causing Marfan Syndrome Detected By Heteroduplex Analysis of Genomic Amplicons. Am J Hum Genet; 57: 8-21, 1995.
This paper described the methods and reagents to perform comprehensive mutation screening for individuals with Marfan Syndrome.
4. Montgomery RA, Dietz HC. Inhibition of Fibrillin-1 Expression Using U1 snRNA as a Vehicle for the Presentation of Antisense Targeting Sequence. Hum Mol Genet; 6: 519-525, 1997.
This work describes the development of a method to regulate fibrillin-1 gene expression in living cells. This may serve as the foundation for the development of a gene therapy strategy for Marfan Syndrome.
5. Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Jensen Biery N, Bunton T, Dietz HC, Ramirez F. Targeting of the Gene Encoding Fibrillin-1 Recapitulates the Vascular Aspect of Marfan Syndrome. Nat Genet; 17: 218-222, 1997.
This work describes the generation and characterization of the first animal model of Marfan Syndrome.
6. Montgomery RA, Bull E, Dietz HC. Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of the Marfan Syndrome. AM J Hum Genet; 63: 1703-1711, 1998.
This paper describes multiple mechanisms by which fibrillin-1 gene mutations alter the amount or function of the protein.
7. Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan Syndrome. Circulation Research; 88: 37-43, 2001.
This work has revealed the mechanisms by which a deficiency of fibrillin-1 leads to gradual deterioration of the aortic wall, culminating in aortic aneurysm. Certain mechanisms, such an inflammation and increased production of matrix degrading enzymes, may be treatable with the use of medications.
8. Judge DP, Biery NJ, Dietz HC. Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan Syndrome. Am J Med Genet; 99: 39-47, 2001.
This paper describes newly identified genetic markers that can be used for molecular diagnosis of Marfan Syndrome. The method should be applicable to every family with multiple affected individuals.
Management of Marfan Cardiovascular Disease
1. Mitral valve operation in patients with Marfan Syndrome. Gillinov AM, Cameron DE, Pyeritz RE, Gott VL, et al. Journal of Thoracic and Cardiovascular Surgery 1994; 107: 724-31.
A retrospective review was carried out on 160 Marfan Syndrome patients who had cardiac surgical procedures at the Johns Hopkins Hospital between January 1983 and January 1993. 36 patients had mitral procedures, 29 of which were mitral repairs and seven required a mitral valve replacement. 2 4 of the 29 patients also had an aortic root replacement. There were no operative deaths. The results of this study demonstrated that 22% of the patients with the Marfan Syndrome who underwent cardiac operations at the Johns Hopkins Hospital during this time frame required a mitral valve procedure and most of the patients could be treated with a mitral repair rather than replacement.
2. Cardiac operations in children with Marfan's Syndrome: indications and results. Gillinov AM, Gott VL, and Cameron DE, et al. Annals of Thoracic Surgery 1997: 64: 1140-5.
From 1980 to 1996, 26 children (less than 18 years of age) underwent cardiac operations at the Johns Hopkins Hospital for complications of the Marfan Syndrome. Overall, 25 of the 26 children had aortic root replacement and 11 underwent an isolated or concomitant mitral valve procedure. There were no operative deaths and the 10 years survival rate was 79% ? 10%.
3. Replacement of the aortic root in patients with the Marfan Syndrome. Gott VL, Greene PS, Alejo DE, Cameron DE, Naftel DC, Miller DC, Gillinov AM, Laschinger JL, and Pyeritz RE. New England Journal of Medicine 1999; 340: 1307-13.
A total of 675 Marfan Syndrome patients underwent replacement of the aortic root in ten Marfan Syndrome surgical centers in North America and Europe. The 30 day mortality was 1.5% among 455 patients who underwent elective repair, 2.6% among 117 patients who underwent urgent repair (within 7 days after surgical consultation), and 11.7% among 103 patients who underwent emergent repair (within 24 hours after surgical consultation). Nearly one-half of the adult patients with aortic dissection at the time of surgery had an aortic root diameter of 6.5 cm or less; it therefore is prudent to undertake prophylactic repair of aortic root aneurysms in patients with the Marfan Syndrome when the diameter of the aorta reaches 5.5 cm.
4. Aortic root replacement in 271 Marfan Syndrome patients: a 24-year experience. Gott VL, Cameron, DE, Alejo DE, Greene PS, Shake JG, Capparrelli DJ, Dietz HC. Annals of Thoracic Surgery 2002; 73: 438-43.
The foregoing paper reports the world's largest series of Marfan Syndrome patients undergoing aortic root replacement. In this series, there were 236 patients who had elective aortic root replacement with no 30-day mortality. 36 patients underwent emergent surgery for aortic dissection and/or end stage heart failure; two of these patients arrived in the operating room with aortic root rupture and did not survive. Eighty-three percent of patients in this series are currently alive. The actuarial freedom from thromboembolism, endocarditis and reoperation on the residual aorta 20 years postoperatively was 93%, 90% and 74%. Twenty-four patients in this series have undergone valve-sparing procedures with encouraging results.
Management of Marfan Syndrome Ophthalmologic Problems
1. Maumenee IH: The Eye in the Marfan Syndrome. Trans Am Opthalmol Soc 1981; 79: 684-733.
The author reviewed 160 consecutive patients with the Marfan Syndrome for ocular, cardiovascular, and skeletal abnormalities, and graded them by severity. The most striking ocular abnormality was enlargement of the globe, presumably caused by scleral stretching. 193 eyes showed dislocation of the lens. There was no correlation between ocular findings, on one hand, and the skeletal and cardiovascular abnormalities on the other.. However, there was a good degree of consistency with regard to absence or presence of ocular pathology among patients in the same family.
2. Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH: Strabismus in the Marfan Syndrome. Am Journal Ophthalmol 1994 May 15; 117(5): 632-5.
Strabismus is a visual defect in which one eye may look straight ahead, while the other eye turns inward, outward, upward or downward. This study demonstrates that strabismus is more common in patients with the Marfan Syndrome than in the general population of the United States. Strabismus in Marfan Syndrome patients may be caused by ectopia lentis (dislocated lens), craniofacial abnormalities, and mechanical and genetic factors.
3. Loewenstein A, Barequet IS, De Juan E Jr, Maumenee IH: Retinal detachment in Marfan Syndrome. Retina 2000; 20(4): 358-63.
The authors examined post-surgical visual acuity in patients with Marfan Syndrome and retinal detachment. Patients who had more recent surgery for retinal detachment at the Wilmer Eye Institute had better final visual acuity than patients operated elsewhere, regardless of whether the eyes had undergone previous lens removal. In eyes operated elsewhere, final visual acuity was better in eyes that had not previously undergone lens surgery. The authors conclude that the prognosis for successful retinal detachment repair in the Marfan Syndrome patients at the Wilmer Eye Institute is good regardless of whether the eye has had prior lens removal.
Management of Marfan Syndrome Orthopedic Problems
1. Growth and Maturation in Marfan Syndrome. Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. American Journal of Medical Genetics 2002. 109: 100-115.
Charts for growth in height weight were developed for males and females with Marfan Syndrome. Persons with Marfan Syndrome do not follow normal growth curves: They mature as much as one to two years early. This is important if one is to predict eventual height and weight fro a growing child.
2. Results of Brace Treatment of Scoliosis in Marfan Syndrome. Sponseller PD, Bhimani M, Solacoff D. Dormans JP. Spine 2000; 25(18): 2350-2354.
Brace treatment successfully controlled scoliosis in only 17% of Marfan Syndrome patients. This was a much lower rate than that seen in the general population. Bracing seems appropriate only if the curve is small and the patient is highly motivated.
3. Dural Ectasia is Associated with Back Pain in Marfan Syndrome. Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Zinreich SJ. Spine 2000; 25(12): 1562-1568.
Dural ectasia, or enlargement of the lowest portion of the covering of the spinal cord, is common in Marfan Syndrome. This study shows that in many patients it is associated with pain.
4. Infantile Scoliosis in Marfan Syndrome. Sponseller PD, Sethi N, Cameron DE, Pyeritz RE. Spine 1997; 22(5): 509-516.
This study showed the unique aspects of infantile scoliosis in Marfan Syndrome. The many associated findings were highlighted. Brace treatment produced no lasting benefit. Suggestions for surgical management, when appropriate, were made. 5. The Thoracolumbar Spine in Marfan Syndrome. Sponseller PD, Hobbs W, Riley LH III, Pyeritz RE. Journal of Bone and Joint Surgery 1995; 77-A: 867-875.
This study for the first time demonstrated the behavior of curves in Marfan Syndrome. Curves worsen faster in growing children with Marfan Syndrome than those without it. Curves over 45 degrees were likely to worsen even during adulthood. Curves do not affect all Marfan Syndrome members of a given family.