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Increased collagen cross-linking (CCL) has been described in hypertensive cardiomyopathy by means of reduced serum ratio of serum carboxyterminal telopeptide of collagen type I (CITP) to matrix metalloproteinase-1 (MMP1). Previous studies have demonstrated the existence of primary impaired diastole in patients with Marfan syndrome (MFS), but little is known about the pathophysiology of this condition.60 MFS patients (without previous cardiovascular surgery or significant valvular regurgitation) and 24 healthy controls (age and sex-matched) were enrolled. All participants underwent a comprehensive transthoracic echocardiographic study, including left atrial and left ventricular speckle-tracking strain analysis. CITP and MMP1 were measured in peripheral blood.All participants had normal diastolic function according to guidelines. Peak left atrial strain in the reservoir phase (LASr) was significantly reduced in the MFS cohort compared to controls (32.2 ± 9.4 vs 43.9 ± 7.0%; p 0.001). Serum CITP and CITP:MMP1 ratio were lower among MFS patients, showing significant correlations with LASr (R = 0.311; p = 0.020 and R = 0.437; p = 0.001, respectively). The MFS cohort was divided into quartiles of LASr. MFS patients in the lowest quartile of LASr (26%) had significantly lower values of CITP:MMP1 ratio compared to the other quartiles.The analysis of serum biomarkers revealed the presence of increased CCL in association with reduced LASr in the MFS cohort. Our results suggest that excessive CCL may play a role in the development of primary myocardial impairment in these patients. Future studies are needed to confirm our findings and evaluate the prognostic role of CCL markers in the MFS population.

Background Current evidence suggests that Brugada syndrome (BrS), far from being a purely electrical condition, is associated with subtle mechanical abnormalities primarily affecting the right ventricle (RV). We aimed to characterize RV function in BrS and investigate the echocardiographic profile of patients with arrhythmic events, with a special focus on parameters of RV dyssynchrony using speckle-tracking echocardiography (STE). Methods An echocardiogram was performed in 71 BrS patients and 25 healthy controls. STE was performed to assess regional and global RV mechanics, including RV outflow tract shortening (RVOTS). RVOT contraction time was considered to calculate the modified RV mechanical dispersion (RVMDm). Arrhythmic events were prospectively evaluated in the BrS cohort. Results Compared to controls, BrS patients showed subtle contractile abnormalities, including impaired RV longitudinal strain, higher RV index of myocardial performance (RIMP) and lower RVOTS. BrS patients also exhibited a greater contraction delay between the lateral and the septal aspect of the RV. After a median follow-up of 7.3 year (IQR 5.2–10.8), 6 patients presented malignant arrhythmic events. RIMP >0.50, RVOTS 42 ms showed high sensitivity for the identification of BrS patients with arrhythmic events during follow-up. Conclusions Subtle RV mechanical abnormalities were present in BrS patients. RIMP and RVOTS, a novel STE-derived parameter, were found to be sensitive markers of arrhythmic events. Adding the RVOT contraction time to the analysis of RVMD may help identify patients at higher risk, reflecting the importance of the RVOT mechanical substrate in the assessment of the arrhythmic risk in BrS.