Impaired right ventricular systolic function demonstrated by reduced atrioventricular plane displacement in adults with Marfan syndrome.

AIMS: The right ventricle (RV) ejects the same volume of blood at the same rate as the left ventricle (LV). Mild LV dysfunction has been demonstrated in Marfan syndrome (MFS). However, little attention has been paid to the functioning of the RV. The aim of this study was to assess RV function in unoperated adult MFS patients. METHODS AND RESULTS: In 66 unoperated (15-58 years) MFS patients and 61 controls, rate of pressure rise (dp/dt) in RV, and tricuspid annular motion (TAM) were studied using conventional echocardiography and tissue Doppler imaging (TDI). When compared with controls, MFS patients showed impaired RV systolic function as expressed by a reduced dp/dt, TAM obtained by M-mode echocardiography, and peak TDI systolic velocities at the basal lateral wall (745.36+/-37.85 vs. 1103.30+/-27.30 mmHg, P<0.001; 2.2+/-0.05 vs. 2.5+/-0.05 cm, P<0.001; and 0.13+/-0.002 vs. 0.16+/-0.002 m/s, P<0.001, respectively). CONCLUSION: This study demonstrated a primary impairment of RV systolic function in MFS. This is the first study to report RV dysfunction in MFS. Such data could prove valuable during the peri-operative and long-term medical management of MFS patients.

Assessment of carotid compliance using real time vascular ultrasound image analysis in Marfan syndrome.

BACKGROUND: Fibrillin-1 deficiency, dysregulated cytokine transforming growth factor-beta, and increased collagen deposition related to fibrillin-1 gene mutations could predispose to impaired carotid compliance (CC) in Marfan syndrome (MFS). We sought to detect any alterations in CC using the vascular image analysis system (VIA). METHODS AND RESULTS: Thirty-two MFS patients, 20 men and 12 women (mean age 34.2 +/- 12.05 years), and 29 controls matched for age, sex, and body surface area (BSA) were recruited. The entire length of each carotid system was initially scanned longitudinally using a 14 MHz linear transducer. Then, a stereotactic clamp held the transducer in contact with the carotid artery. Arterial diameter changes during the cardiac cycle were recorded for 1 minute from both right (RCCA) and left common carotid arteries (LCCA) separately using the VIA system. RCCA and LCCA compliance and distensibility measurements were significantly reduced in MFS patients when compared to controls, P < 0.05. RCCA and LCCA intima-media thickness did not differ between patients and controls, P > 0.05. MFS diagnosis and age were associated with reduced CC in both carotid arteries after adjusting for variables such as, sex, BSA, heart rate, beta-blockade, intima-media thickness, and aortic root size. CONCLUSIONS: Our findings showed a reduction in CC in adult patients with MFS. This could be attributed to fibrillin-1 deficiency resulting in structural abnormalities in the carotid arterial wall.

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

AIMS: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene. It has been observed that FBN1 deficient mice have reduced left ventricular (LV) systolic function which is correlated to increased transforming growth factor-beta activity. This study aimed to ascertain LV functional abnormalities in MFS patients using M-mode and tissue Doppler imaging (TDI). METHODS AND RESULTS: In 66 (15-58 years) MFS patients and 61 normal controls, ejection fraction (EF) was evaluated by Simpson's biplane method. Atrioventricular plane displacement (AVPD) obtained from five mitral annular regions was also assessed using M-mode and TDI techniques. To overcome limitations associated with conventional M-mode echocardiography, anatomical and colour anatomical M-mode were also utilized. Ejection fraction was significantly reduced in MFS patients when compared to controls (66.3 +/- 0.74 vs. 71.9 +/- 0.56, P < 0.001), although it was within the normal range. M-mode and TDI AVPD measurements obtained from lateral, septal, inferior, anterior and posterior mitral annular regions were also significantly reduced in MFS patients in comparison to controls (P <0.001, for all measurements). CONCLUSION: 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.

Effect of aortic stiffness on left ventricular long-axis systolic function in adults with Marfan syndrome.

INTRODUCTION: several studies have documented increased aortic stiffness in patients with Marfan syndrome (MFS) using echocardiography and magnetic resonance imaging. Recent studies have also shown primary myocardial impairment in MFS. We investigated whether left ventricular (LV) function could be further impaired when acting against a stiff vascular system. METHODS: twenty-six MFS patients (mean age 30 ± 2 years, 17 males) and 30 normal controls were examined. Mitral annular displacement, as a surrogate for LV systolic function, was evaluated from septal, anterolateral, anterior and inferior regions using M-mode and tissue Doppler imaging. Septal/anterolateral and anterior/inferior M-mode displacement measurements were normalised by dividing them by the longitudinal inner distance obtained at end diastole from the 4- and 2-chamber views, respectively. Carotid-femoral and carotid-radial (CF and CR) pulse wave velocities (PWV) were determined using an automated applanation tonometry device. Central aortic pressure was assessed by recording radial waveforms with the tonometer and central waveforms were reconstructed using a generalised transfer function. RESULTS: CF- and CR-PWV were significantly increased in the patient group (p<0.001), whilst mitral annular displacement measurements were significantly reduced (p<0.001, all regions). Regression analysis demonstrated that the disease status and CF-PWV were strongly associated with reduced LV systolic function (p<0.001, p=0.002, respectively). CONCLUSIONS: our study showed reduced LV systolic function and increased aortic stiffness in MFS patients. The efficiency of a fibrillin-1 deficient heart may be further reduced by ejection into a stiff vascular system. Care should be taken to ensure that any treatment regime addresses both increased aortic stiffness and myocardial dysfunction in MFS.