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Phd Ceremony J.J.J. Aalberts: Marfan syndrome and related connective tissue disorders. Cardiological and genetic aspects

When:We 23-04-2014 10:00 - 11:00

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. The cardiovascular hallmark of familial mitral valve prolapse 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.

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