Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys-Dietz syndromes

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Monica Chivulescu1,2, Kirsten Krohg-Sørensen2,3, Esther Scheirlynck1

  • 1Department of Cardiology, Oslo University Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.

European Heart Journal. Cardiovascular Imaging
|December 6, 2020
PubMed
Abstract

Insights

Mitral annulus disjunction (MAD) is common in Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). MAD indicates more severe disease, including aortic events at a younger age and the need for mitral valve surgery.

Area of Science:

  • Cardiology
  • Genetics
  • Vascular Biology

Background:

  • Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are connective tissue disorders associated with significant cardiovascular complications.
  • Mitral annulus disjunction (MAD) is a recognized echocardiographic finding, but its prevalence and clinical significance in MFS and LDS are not fully elucidated.

Purpose of the Study:

  • To determine the prevalence of mitral annulus disjunction (MAD) in patients with Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS).
  • To investigate the association between MAD and aortic disease (aortic dissection or surgery) and the need for mitral valve surgery in these patient populations.

Main Methods:

  • A retrospective analysis of 168 patients (103 with MFS, 65 with LDS) fulfilling established diagnostic criteria.
  • MAD was identified and quantified using echocardiography.
  • Aortic events (dissection or prophylactic surgery) and mitral valve surgery were recorded.

Main Results:

  • The prevalence of MAD was 41% across all age groups in the study cohort.
  • Patients with MAD experienced aortic events at a younger age compared to those without MAD.
  • A greater MAD distance was associated with aortic events, and mitral events occurred more frequently in patients with MAD.

Conclusions:

  • Mitral annulus disjunction (MAD) is highly prevalent in patients with MFS and LDS.
  • MAD serves as a marker for more severe disease, including earlier aortic events and increased need for mitral valve surgery.
  • Screening for MAD in MFS and LDS patients can provide prognostic information and guide surgical planning and clinical follow-up.
Keywords:
Loeys–DietzMarfanaortic syndromemitral annulus disjunctionmitral valve diseasemitral valve prolapse

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