Figure 1. A. Initial transesophageal echocardiography (TOE) showed a small mass on the atrial surface of the mitral valve (white arrows) protruding into the valve orifice during diastole without affecting prosthetic valve closing (Note: The clot was evident both at 0◦ and at 100◦ views). B. Repeat TOE 3 days later illustrated a gradual decrease of clot burden. C. Repeat TOE 13 days later demonstrated further decrease of clot burden.

Background: Marfan syndrome is characterised by high risk of aortic dissections and increased cardiovascular risk. However, the impact of Marfan syndrome on endothelial function and arterial stiffness is unclear, while the role of matrix metalloproteinases is unknown. We examined the impact of Marfan syndrome on the elastic properties of the arterial tree, and vascular endothelial function, and we evaluated the potential role of matrix metalloproteinases in these effects. Methods: The study population consisted of 17 subjects with Marfan syndrome, aged 26.6±2.3 years old, with BMI 20.5±1.03Kg/m2 and 22 healthy individuals matched for gender, age (26.4±0.78 years old, p=NS) and BMI (22.4±0.86 Kg/m2). Arterial stiffness was evaluated by measuring carotid-femoral pulse wave velocity (PWV), while augmentation pressure and augmentation index (AIx) were also determined, as measures of arterial wave reflections. Endothelial function was evaluated by determining flow mediated dilation (FMD) in the brachial artery while matrix metalloproteinase 9 (MMP-9) levels were determined by ELISA. Results: Patients with Marfan syndrome had significantly lower pulse pressure in the radial artery (41.0±1.07mmHg) compared to controls (51.3±4.4mmHg). In addition, patients had higher AIx (17.6±2.4%) and augmentation pressure (5.44±0.65mmHg) compared to controls (7.72±3.43% and 2.41±1.14mmHg respectively, p<0.05 for both). However, the difference in PWV between patients and controls did not reach statistical significance (6.33±0.33 vs 5.96±0.23m/s respectively, p=NS). Patients with Marfan syndrome had lower FMD (2.05±1.13%) and higher plasma MMP-9 (827±70ng/ml) compared to controls (6.8±2.3% p<0.05 and 326±50ng/ml, p<0.01). Conclusions: Marfan syndrome is associated with increased MMP-9 levels, as well as with elevated augmentation index and augmentation pressure compared to healthy individuals, matched for age, gender and body mass index. Moreover, flow-mediated dilation is also impaired in these subjects. These findings suggest that Marfan syndrome directly affects the elastic properties and endothelial function of the arterial tree, with matrix metalloproteinases being important mediators in the pathophysiology of this syndrome.

Despite intense iron-chelation therapy, the life expectancy of patients with ß-thalassemia major (ß-TM) is still limited by the occurrence of heart failure. In the present study, we sought to evaluate the prognostic significance of several clinical factors on the outcome of heart failure or arrhythmias in patients with ß-TM. The study group consisted of 131 consecutive young patients with ß-TM (71 men aged 21 ± 4 years, 60 women aged 22 ± 5 years) who were initially examined during 1995. The clinical and vital statuses of all patients were biannually reviewed from 1995 to 2004. Cox proportional hazards models were used to evaluate the association of the occurrence of death or nonfatal events due to heart failure or arrhythmias with clinical factors (systolic and diastolic blood pressures), echocardiographic factors (left and right ventricular diameters, left atrial and aortic root dimensions, left ventricular ejection fraction), electrocardiographic factors (T-wave inversion in leads V1-V3, QRS duration, heart rate), and serum ferritin levels, after controlling for age, sex, and body mass index. During the follow-up, 11 men (16%) and 5 women (8%) had an event (men versus women, P = .212). The age-adjusted event rate was 16 events per 913 person-years (2%). The presence of T-wave inversion in right precordial leads (hazard ratio = 3.06; 95% confidence interval [CI], 1.1-8.8), increased heart rate (hazard ratio = 1.28; 95% CI, 1.03-1.58), decreased aortic root diameter (hazard ratio = 0.84; 95% CI, 0.73-0.96), and decreased ejection fraction (hazard ratio per 1% change = 0.95; 95% CI, 0.91-0.99) were associated with a higher risk for a cardiac event. We revealed that the presence of T-wave inversions, increased heart rate, low ejection fraction of the left ventricle, and decreased aortic root diameter appear to confer higher risk for cardiac events in young patients with ß-TM.