Huge isolate abdominal aorta aneurysm in a 24-year-old patient with Marfan syndrome in CT imaging in view of recent literature
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II Department of Radiology, Medical University, Lublin, Poland
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Witold Krupski   

II Department of Radiology, Medical University, Lublin, Staszica 16, 20-081 Lublin, Poland.
J Pre Clin Clin Res. 2008;2(1):85-87
The Marfan syndrome is an autosomal dominant disorder of connective tissue characterized by a large number of possible mutations, and by heterogeneity of clinical presentation primarily in skeletal, ocular and cardiovascular organ systems. Cardiovascular complications of the disease are responsible for high mortality. The case of a young patient with a progressive advanced abdominal aorta dilatation visualized on CT images is presented. Pathogenesis, diagnosis and management of patients with Marfan syndrome are also discussed.
Ramirez F, Dietz HC: Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev 2007, 17, 252-258.
Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P,Steinmann B, Junien C, Beroud C, Boileau C: Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003, 22, 199-208.
DaPaepe A, Devereux RB, Dietz H, Hannekam RCM, Pyeritz R: Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996, 62, 417-426.
Villeirs GM, Van Tongerloo AJ, Verstraete KL, Kunnen MF, De Paepe AM: Widening of the spinal canal and dural ectasia in Marfan’s syndrome: assessment by CT. Neuroradiology 1999, 41, 850-854.
Nollen GJ, Mulder BJM: What is new in the Marfan syndrome? Int J Cardiology 2004, 97, 103-108.
Dapunt OE, Galla JD, Sadeghi AM, Lansman SL, Mezrow CK, de Asla RA, Quintana C, Wallenstein S, Ergin AM, Griepp RB: The natural history of thoracic aortic aneurysms. J Thorac Cardiovasc Surg 1994, 107, 1332-1333.
Silverman DI, Gray J, Roman MJ, Bridges A, Burton K, Boxer M, Devereux RB, Tsipouras P: Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol 1995, 26, 1062-1067.
Miller DC: Valve-sparing aortic root replacement in patients with the Marfan syndrome. J Thorac Cardiovasc Surg 2003, 125, 773-778.
Yazici M, Soydinc S, Davutoğlu V, Akdemir I, Dinckal MH: Large Ascending Aortic Aneurysm and Severe Aortic Regurgitation in a 7- year-old Child with Marfan Syndrome and a Review of the Literature: Marfan Syndrome in Childhood. Int J Cardiovasc Imaging 2004, 20, 263-267.
Nollen GJ, Groenink M, Tijssen JG, Van Der Wall EE, Mulder BJ: Aortic stiff ness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 2004, 25, 1146-1152.
Kallenbach K, Baraki H, Khaladj N, Kamiya H, Hagl C, Haverich A, Karck M: Aortic valve-sparing operation in Marfan syndrome: what do we know after a decade? Ann Thorac Surg 2007, 83, S764-S768.
Niinami H, Aomi S, Tagusari O, Hashimoto A, Koyanagi H: Extensive aortic reconstruction for aortic aneurysms in Marfan syndrome. Ann Thorac Surg 1999, 67, 1864-1867.
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