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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\u201372) in the 34 patients for whom this was calculable, which was significantly higher than the median chronological age of 29 years (IQR: 22\u201339, <jats:italic>p<\/jats:italic>&lt;0.001). Phenoage was higher than chronological age in 85% (<jats:italic>N<\/jats:italic>=29) of patients, with a median difference of +18 years (IQR: +4, +34). On echocardiography, significant decreases were observed over time in left ventricular (LV) size at end-diastole (average of 0.046 cm per year, <jats:italic>p<\/jats:italic>&lt;0.001) and end-systole (1.1% per year, <jats:italic>p<\/jats:italic>=0.025), with significant increase in posterior wall thickness at end-diastole (0.009 cm per year, <jats:italic>p<\/jats:italic>=0.008). LV systolic function measured by global longitudinal strain reduced (0.34 percentage points per year, <jats:italic>p<\/jats:italic>=0.020) and E\/e\u2019lat increased (2.5% per year, <jats:italic>p<\/jats:italic>=0.019). Most AS patients display a higher Phenoage compared to chronological age. Cardiac changes in AS patients were also reflective of accelerated ageing, with a reduction in LV size and increased wall thickening. AS may be a paradigm disease for premature ageing.<\/jats:p>","DOI":"10.1007\/s11357-023-00959-3","type":"journal-article","created":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T04:01:35Z","timestamp":1696219295000},"page":"1989-1999","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenoage and longitudinal changes on transthoracic echocardiography in Alstr\u00f6m syndrome: a disease of accelerated ageing?"],"prefix":"10.1007","volume":"46","author":[{"given":"Leena","family":"Patel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4600-2733","authenticated-orcid":false,"given":"Ashwin","family":"Roy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amor Mia B","family":"Alvior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengshi","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanat","family":"Baig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina V.","family":"Bunting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Hodson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katja","family":"Gehmlich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet M","family":"Lord","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarekegn","family":"Geberhiwot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard P.","family":"Steeds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,2]]},"reference":[{"key":"959_CR1","first-page":"1","volume":"129","author":"CH Alstrom","year":"1959","unstructured":"Alstrom CH, Hallgren B, Nilsson LB, Asander H. 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