Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alstr?m Syndrome: an observational study

摘要

Background Alstr?m syndrome is a rare inherited ciliopathy with progressive multisystem involvement. Dilated cardiomyopathy is common in infancy and recurs or presents de novo in adults with high rates of premature cardiovascular death. Although Alstr?m syndrome is characterised by fibrosis in solid organs such as the liver, the pathogenesis of related cardiomyopathy are not clear. To date it is not known whether diffuse interstitial myocardial fibrosis is present before the onset of heart failure symptoms or changes in conventional parameters of left ventricular function. Methods In this observational study, 26 patients with Alstr?m syndrome (mean age 27?±?9 years, 65 % male, 24 h ABPM 130?±?14 / 77?±?9 mmHg) without symptomatic cardiovascular disease were recruited from a single centre and compared to matched healthy controls. All subjects underwent cardiac MRI (1.5 T) to assess ventricular function, diffuse interstitial myocardial fibrosis by measurement of extracellular volume on T1-mapping (MOLLI) and coarse replacement fibrosis using standard late gadolinium enhancement imaging. Results Global extracellular volume was increased in Alstr?m syndrome with wider variation compared to controls (0.30?±?0.05 vs. 0.25?±?0.01, p?