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Cardiovascular Manifestations of Marfan and Loeys-Dietz Syndrome

  • Florian S. SchoenhoffEmail author
  • Thierry P. Carrel
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Abstract

The last decade has seen an increasing awareness for patients with connective disorders and patients with Marfan syndrome (MFS) in particular. MFS has long been the only seriously considered differential diagnosis in young patients presenting with aortic aneurysms. The advent of multi-gene panel genetic testing and the discovery of new syndromic forms of connective tissue disorders such as Loeys-Dietz syndrome (LDS) as well as many forms of non-syndromic presentations have established thoracic aortic aneurysms as a genetically mediated disease. Although the spectrum has broadened, MFS still serves as a model for connective tissue disorders with vascular involvement. The vast majority of MFS patients develop aortic root aneurysms over time. Most MFS patients undergo root surgery in their early 30s. As patients with LDS patients may dissect below the accepted threshold for surgery in MFS patients, earlier intervention is recommended. The need for re-intervention in these patients is driven by a history of aortic dissection and prevention of dissection is of paramount importance.

MFS patients frequently exhibit anomalies of the mitral valve including thickening of the leaflets, excessive leaflet tissue but also structural deformations of the valvular and subvalvular apparatus. In children with a severe form of MFS, the mitral valve is the major cause of morbidity and mortality. Arterial tortuousity was one of the key features when LDS was initially described. Patients frequently present with marked tortuosity or even aneurysms of the supra-aortic branches. But the risk of rupture or dissection and the subsequent need for prophylactic intervention has not yet been determined. This chapter provides an overview of cardiovascular manifestations of MFS and LDS.

Keywords

Aneurysm Dissection Fibrillin-1 Loeys-Dietz syndrome Marfan syndrome 

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Authors and Affiliations

  1. 1.Department of Cardiovascular SurgeryUniversity Hospital BernBernSwitzerland

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