Early impairment of left ventricular long-axis systolic function demonstrated by reduced atrioventricular plane displacement in patients with Marfan syndrome

Abstract

Left ventricular long-axis systolic function is significantly reduced in MFS patients. This data suggests that LV function should be monitored in MFS and appropriate treatment applied if necessary.

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome

“…For example, a retrospective study of 143 MFS patients identified that the long-term mortality rate associated with aortic repair was 20% and that congestive heart failure was almost as great a risk factor as rupture/dissection of a secondary aneurysm (19% vs. 23%, respectively) (31). Since first described in a 1985 report (9), cardiomyopathy in MFS has been evaluated in several clinical studies totaling over 800 patients and collectively suggesting an average disease prevalence of approximately 20% with cohort-specific ranges from 0% to 68% (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Different factors are likely to have contributed to this extreme variance; among others, they include the exclusion criteria used in the studies, the size and age of the cohorts examined, the medication status of individual patients, the parameters used to normalize cardiac measurements, and the accuracy and resolution across different imaging modalities.…”

“…While the prevailing view is that thoracic aortic aneurysm (TAA) and cardiac valve abnormalities overload the left ventricle (LV) by respectively stiffening the aortic wall and increasing valve regurgitation (6), several clinical studies of relatively small cohorts of MFS patients have reported LV pathology in the absence of severe valve regurgitation or aortic surgery, or that is out of proportion with aneurysm growth (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). These findings have been used to argue that mutations in fibrillin 1 may cause ventricular dysfunction by altering the structural properties of myocardial tissue and/ or the local bioavailability of TGF-β signals (6,18).…”

The Ghent Marfan Trial — A randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers

“…Our trial can be differentiated from the other trials in that we will use a combination of imaging techniques such as vascular ultrasound, tissue Doppler imaging and MRI for cardiovascular measurements. We are also interested in the effect of losartan on LV function since several studies showed evidence for impairment of both systolic and diastolic LV function in MFS patients [37,38]. Losartan has already shown beneficial effects in patients with other causes of LV dysfunction [39].…”

Marfan Syndrome—An Echocardiographer’s Perspective

“…Reduced peak systolic velocities at the basal septal and lateral myocardial wall, increased endsystolic volumes, and lower peak early diastolic velocities at the mitral valve annulus were reported [7]. The degree of atrioventricular plane displacement from lateral, septal, inferior, anterior, and posterior mitral annular regions was also significantly reduced [8]. By similar methods, atrial functiondreflected by indices at the reservoir, conduit, and contractile phasesdand right ventricular functiondreflected by rate of pressure rise (dp/dt), tricuspid annular motion, and peak TDI systolic velocities at the basal lateral walldwere both decreased significantly [9,10].…”