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Intrinsic biventricular dysfunction in Marfan syndrome
  1. Piet de Witte1,2,
  2. Jan J J Aalberts3,
  3. Teodora Radonic2,4,
  4. Janneke Timmermans5,
  5. Arthur J Scholte6,
  6. Aeilko H Zwinderman4,
  7. Barbara J M Mulder1,2,
  8. Maarten Groenink1,2,7,
  9. Maarten P van den Berg3
  1. 1Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands
  2. 2Interuniversity Cardiology Institute of the Netherlands, Utrecht, the Netherlands
  3. 3Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
  4. 4Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam, the Netherlands
  5. 5Department of Cardiology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
  6. 6Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands
  7. 7Department of Radiology, Academic Medical Center, Amsterdam, the Netherlands
  1. Correspondence to Piet de Witte, Research Fellow, Department of Cardiology, B2-217, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands; p.dewitte{at}amc.uva.nl

Abstract

Background Marfan syndrome (MFS) is an autosomal, dominantly inherited, connective tissue disorder usually caused by a mutation in the fibrillin-1 gene (FBN1). As fibrillin-1 is a component of the extracellular matrix of the myocardium, mutations in FBN1 may cause impairment of ventricular function. Furthermore, aortic elasticity is decreased in patients with MFS, which might also impair ventricular function. We assessed biventricular function and the influence of aortic elasticity in patients with MFS by means of cardiac MRI.

Methods and results Cardiac magnetic resonance was performed in 144 patients with MFS without significant valvular dysfunction, previous cardiac surgery or previous aortic surgery. Biventricular diastolic and systolic volumes were measured, and ejection fractions were calculated. Flow wave velocity, a measurable derivative of aortic elasticity, was measured between the ascending aorta and the bifurcation. When compared to healthy controls (n=19), left ventricular ejection fraction (LVEF) was impaired in patients with MFS (53%±7% vs 57%±4%, p<0.005), as was right ventricular ejection fraction (RVEF) (51%±7% vs 56%±4%, p<0.005). LVEF and RVEF were strongly correlated. (r=0.7, p<0.001). No significant differences were found between patients with β-blocker treatment and those without. There was no correlation between aortic elasticity as measured by flow wave velocity and LVEF.

Conclusions Biventricular ejection fraction was impaired in patients with MFS, and the impairment was independent of aortic elasticity and β-blocker usage. There was also a strong correlation between LVEF and RVEF. Our findings suggest intrinsic myocardial dysfunction in patients with MFS.

Clinical trial registration http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=1423. Unique Identifier: NTR1423

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Footnotes

  • Funding This work is funded by a grant of the Netherlands Heart Foundation (grant 2008B115) and the consortium Fighting Aneurysmal Disease (FAD).

  • Competing interests None.

  • Ethics approval Ethics approval was provided by Medical Ethics Committee, Academical Medical Center Amsterdam, the Netherlands.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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