Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome |
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Authors: | Jan J.J. Aalberts J. Peter van Tintelen Lilian J. Meijboom Annette Polko Jan D.H. Jongbloed Henriette van der Wal Gerard Pals Jan Osinga Janneke Timmermans Julie de Backer Marian K. Bakker Dirk J. van Veldhuisen Robert M.W. Hofstra Barbara J.M. Mulder Maarten P. van den Berg |
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Affiliation: | 1. Department of Cardiology, University Medical Center Groningen, Groningen;2. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands;3. Durrer Center for Cardiogenetic Research, Utrecht, The Netherlands;4. Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands;5. Department of Molecular Genetics, Free University Medical Center, Amsterdam, The Netherlands;6. Department of Cardiology, Radboud University Nijmegen Medical Center, The Netherlands;g Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium |
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Abstract: | Cardiovascular manifestations in patients with Marfan syndrome (MFS) are related to aortic and valvular abnormalities. However, dilatation of the left ventricle (LV) can occur, even in the absence of aortic surgery or valvular abnormalities. We evaluated genetic characteristics of patients with MFS with LV dilatation. One hundred eighty-two patients fulfilling the MFS criteria, without valvular abnormalities or previous aortic surgery, with a complete FBN1 analysis, were studied. FBN1 mutations were identified in over 81% of patients. Twenty-nine patients (16%) demonstrated LV dilatation (LV end diastolic diameter corrected for age and body surface area > 112%). FBN1-positive patients carrying a non-missense mutation more often had LV dilatation than missense mutation carriers (14/74 versus 5/75; p < 0.05). Finally, FBN1-negative MFS patients significantly more often demonstrated LV dilatation than FBN1-positive patients (10/33 versus 19/149; p < 0.05). It is concluded that LV dilatation in MFS patients is more often seen in patients with a non-missense mutation and in those patients without an FBN1 mutation. Therefore physicians should be aware of the possibility of LV dilatation in these patients even in the absence of valvular pathology. |
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Keywords: | DHPLC, denaturing high performance liquid chromatography FBNI, fibrillin-1 gene LV, left ventricle LVEDD, left ventricular end diastolic dimension M-mode, motion mode MFS, Marfan syndrome MLPA, multiplex ligation-dependent probe amplification SD, standard deviation TGFβ, transforming growth factor beta TGFBR1, transforming growth factor-β receptor 1 gene TGFBR2, transforming growth factor-β receptor 2 gene |
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