Abstract 14346: Biventricular Dysfunction in Marfan Syndrome
Purpose: Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrilin-1 gene. As fibrilin-1 is a component of the extracellular matrix of the myocardium, ventricular function in Marfan syndrome could be impaired. Echocardiographic studies evaluating ventricular function in Marfan syndrome have been inconclusive. We assessed biventricular function in Marfan syndrome by means of cardiac MRI (CMR) and compared these results with echocardiographic measurements.
Methods: CMR was performed in 159 Marfan patients without significant valvular dysfunction, previous valvular surgery or previous aortic root surgery. Biventricular diastolic and systolic volumes were measured and ejection fraction was calculated.
Results: Left ventricular ejection fraction (LVEF) was mildly impaired (mean 52±6% in males, 53±5% in females), as was right ventricular ejection fraction (RVEF) (mean 48±7% in males, 52±6% in females). LVEF and RVEF were strongly correlated (figure, r2=0.4, p<0.001). The end diastolic volumes corrected for body surface area were normal. No significant differences were found between patients on β-blocker therapy and those without. Fractional shortening assessed with echocardiography was available in 62 patients and impaired in only one patient. Of these 62 patients, 46 patients had an impaired LVEF on CMR (<55%).
Conclusions: Biventricular ejection fraction is mildly impaired with normal end diastolic volumes in adult patients with Marfan syndrome. This impairment is not detected by echocardiography. There is a strong correlation between LVEF and RVEF, suggesting intrinsic myocardial dysfunction in patients with Marfan syndrome.
- © 2010 by American Heart Association, Inc.