A 23‑year‑old woman with Marfan syndrome and spine deformity (RCD code: I-2A.1)

Hanna Dziedzic-Oleksy, Lidia Tomkiewicz‑Pająk, Piotr Wilkołek, Jerzy Sadowski, Piotr Podolec

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Marfan syndrome is one of the most common heritable connective tissue disorders that is caused by various mutations of the Fibrillin-1
(FBN1) gene. The cardinal features of Marfan syndrome are aortic root dilatation and ectopia lentis, but the abnormalities may also
concern other cardiovascular problems as well as musculoskeletal and central nervous systems, eyes, lungs and skin. Due to the high
prevalence of disease the diagnosis and treatment may be often complicated. We present a 23-year-old female with Marfan syndrome
and severe thoracic scoliosis, after the procedures of insertion of corrective rods in the past, who came to medical attention due to enlargement
of the bulb of the aorta over 4-year period observation. The patient was treated conservatively and until present she remains
uneventful. We discuss the common presentation, diagnostic tools, and treatment options for patients with Marfan syndrome based on
most recent literature and guidelines. JRCD 2013; 1 (3): 36–42


fibrillin mutation; aortic root dilatation; skeletal deformity


Baumgartner H, Bonhoeffer P, De Groot NM, et al Task Force on the Manag ement of Grown‑up Congenital Heart Disease of the European Society of Cardiology (ESC); Association for European Paediatric Cardiology (AEPC). ESC Guidelines for the management of grown‑up congenital heart disease (newversion 2010). Eur Heart J. 2010;31:2915–57.

Yuan SM, Jing H. Marfan’s syndrome: an overview. Sao Paulo Med J. 2010;128:360–6.

Collins MJ, Dev V, Strauss BH, et al. Variation in the histopathological features of patients with ascending aortic aneurysms: a study of 111 surgically excised cases. J Clin Pathol 2008; 61:519.

Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476.

De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62:417.

Roman MJ, Devereux RB, Kramer‑Fox R, O’Loughlin J. Two‑dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989; 64:507.

Radonic T, de Witte P, Groenink M, et al. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. Clin Genet 2011.

Rybczynski M, Mir TS, Sheikhzadeh S, et al. Frequency and age‑related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol 2010; 106:1048.

Sohn GH, Jang SY, Moon JR, et al. The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria. Int J Cardiovasc Imaging. 2011;27:679–88.

Lundby R, Rand‑Hendriksen S, Hald JK, et al. Dural ectasia in Marfan syndrome: a case control study. AJNR Am J Neuroradiol. 2009;30:1534–40.

Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/ SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266–369.

Nollen GJ, Groenink M, Tijssen JG, van der Wall EE, Mulder BJ. Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 2004;25:1146–1152.

Hartog AW, Franken R, Zwinderman AH, et al. Current and future pharmacological treatment strategies with regard to aorticdisease in Marfan syndrome. Expert Opin Pharmacother. 2012;13:647–62.

Song HK, Kindem M, Bavaria JE, et al. Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium. Long‑term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic AorticAneurysms and Cardiovascular Conditions Consortium Registry. J Thorac Cardiovasc Surg. 2012;143:282–6.

P Podolec, W Tracz, M Kostkiewicz,et al. Clinical and echocardiographical study of the aortic homograft implantations in patients with Marfan syndrome. Int J Cardiol. 1997;60:41–7.

DOI: http://dx.doi.org/10.20418%2Fjrcd.vol1no3.123


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