Prospective cardiovascular magnetic resonance imaging in adults with Alstrom syndrome: silent progression of diffuse interstitial fibrosis.

ABSTRACT:

Background

Alström syndrome (ALMS) is a rare ciliopathy characterised by early onset insulin resistance, obesity, and dyslipidaemia and is a model for diseases that have huge social, health and economic impact. Cardiomyopathy develops in the majority, with high rates of morbidity and mortality, the definitive features of which are coarse replacement fibrosis and diffuse myocardial fibrosis (DIF). The pathogenesis of heart failure is thought to involve fibroblast accumulation and expansion of the extracellular matrix with excess protein deposition, leading to distorted organ architecture and impaired contractile function. Consecutive adults with genetically proven ALMS attending the National Centre for Rare Disease in Birmingham, England were studied. All patients underwent serial C

SUBMITTER: Baig S 

PROVIDER: S-EPMC7275389 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature