Biventricular and atrial diastolic function assessment using conventional echocardiography and tissue-Doppler imaging in adults with Marfan syndrome

Abstract

This study demonstrated significant biventricular diastolic and biatrial systolic and diastolic dysfunction in MFS patients. Our findings suggest that MFS affects diastolic function independently. Diastolic abnormalities could be attributed to fibrillin-1 deficiency and dysregulation of transforming growth factor-beta activity in the cardiac extracellular matrix.

A patient with Marfan's syndrome presented with severe rheumatic mitral stenosis and successfully treated with percutaneous transmitral balloon commissurotomy – Report of first case

“…Some study revealed significant biventricular diastolic and biatrial systolic and diastolic dysfunction in a fairly large series of adult patients with MFS in the absence of valvular disease. 6 Congenital heart disease like atrial septal defect and aortic bicuspid valve had the same prevalence than in subjects without MFS. 7 Literature supports the existence of a primary cardiomyopathy in a subgroup of MFS.…”

Marfan Syndrome—An Echocardiographer’s Perspective

“…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]. However, because most of the patients suffered from aortic dilatation or dissection before developing heart failure, the clinical impact of these mild but significant changes was unclear.…”

Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys–Dietz Syndromes

“…Accord-ingly, mild but significant impairment of LV systolic and diastolic function have been reported in adult patients. [57][58][59][60] Moreover, Das, et al reported that children and young adult MFS patients were predisposed to prolonged mitral deceleration times (DT) and mitral E/A ratios in echocardiography, suggesting impaired LV relaxation (diastolic dysfunction). 61) In other studies, some patients developed dilated cardiomyopathy (DCM)-like features that were not consistent with aortopathy and valvulopathy, 62,63) but these patients could receive heart transplantation under careful monitoring.…”