Marfan syndrome and related connective tissue disorders: Cardiological and genetic aspects

Jan Aalberts

    Research output: ThesisThesis fully internal (DIV)

    5890 Downloads (Pure)


    In this thesis several cardiological and genetic aspects of the Marfan syndrome, the Loeys-Dietz syndrome and familial mitral valve prolapse are addressed.
    Cardiovascular manifestations are present in all of these heritable connective tissue disorders. Both Marfan syndrome and Loeys-Dietz syndrome can be
    accompanied by disastrous aortic complications. Of course the cardiovascular hallmark of familial mitral valve prolapse speaks for itself and this can go
    along with significant mitral valve insufficiency and ventricular arrhythmias. In order to prevent over- and under-diagnosis, the diagnostic evaluation of
    patients suspected of one of these disorders has to be done carefully and completely. The latest diagnostic criteria for the Marfan syndrome do not cause
    major changes in the number of patients diagnosed with Marfan syndrome. They do, however, lead to a significant increase in the number of patients
    diagnosed with mitral valve prolapse syndrome. Furthermore, the diagnostic yield of patients with aortic root (proximal part of the aorta) dilatation seems to
    be high. Patients with Marfan syndrome have a mild dysfunction of both ventricles of the heart, irrespective of aortic elasticity and beta-blocker use. In
    addition, dilatation of the left ventricle in patients with Marfan syndrome is more often present in patients without an mutation in the FBN1 gene. It is also safe
    and effective to use a protocol based on body surface area for preventive replacement of the aortic root (proximal part of the aorta) in patients with Marfan
    syndrome. Finally, mutations in TGFBR1 and TGFBR2 probably do not cause isolated mitral valve prolapse.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    • van den Berg, Maarten, Supervisor
    • van Langen, Irene, Supervisor
    • Tintelen ,van, Peter, Co-supervisor
    Award date23-Apr-2014
    Place of Publication[S.l.]
    Print ISBNs978-90-367-6780-4
    Electronic ISBNs978-90-367-6779-8
    Publication statusPublished - 2014


    Dive into the research topics of 'Marfan syndrome and related connective tissue disorders: Cardiological and genetic aspects'. Together they form a unique fingerprint.

    Cite this