Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)40-43
Number of pages4
Issue number1
Publication statusPublished - 15 Jan 2014


  • FBN1-mutation
  • Genetics
  • Genotype-phenotype relation
  • Left ventricular dilatation
  • Marfan syndrome


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