Phenoage and longitudinal changes on transthoracic echocardiography in Alstrom syndrome: a disease of accelerated ageing?

ABSTRACT: Alström syndrome (AS) is an ultra-rare disorder characterised by early-onset multi-organ dysfunction, such as insulin resistance, obesity, dyslipidaemia, and renal and cardiovascular disease. The objective is to explore whether AS is a disease of accelerated ageing and whether changes over time on echocardiography could reflect accelerated cardiac ageing. Cross-sectional measurement of Phenoage and retrospective analysis of serial echocardiography were performed between March 2012 and November 2022. The setting is a single national tertiary service jointly run by health service and patient charity. Forty-five adult patients aged over 16 years were included, 64% were male and 67% of White ethnicity. The median Phenoage was 48 years (interquartile range [IQR]: 35-72) in the 34 patients for w

SUBMITTER: Patel L 

PROVIDER: S-EPMC10828353 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature