Journal article

Cardiovascular risk factors and body composition in adults with achondroplasia

Svein O Fredwall, Jennifer Linge, Olof Dahlqvist Leinhard, Lisa Kjonigsen, Heidi Beate Eggesbo, Harald Weedon-Fekjaer, Ingeborg Beate Lidal, Grethe Manum, Ravi Savarirayan, Serena Tonstad

Genetics in Medicine | SPRINGERNATURE | Published : 2020


PURPOSE: An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study investigated cardiovascular risk factors and body composition in Norwegian adults with achondroplasia. METHODS: We conducted anthropometric, clinical, and laboratory assessments in 49 participants with achondroplasia, of whom 40 completed magnetic resonance imaging (MRI) for body composition analysis. Controls consisted of 98 UK Biobank participants, matched for body mass index (BMI), sex, and age. RESULTS: Participants were well matched for BMI (33.3 versus 32.5 kg/m2) and sex, but achondroplasia participants were younger than controls (mean age 41.1 versus 54.3 year..

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Awarded by Dam Foundation

Awarded by Norwegian National Advisory Unit on Rare Disorders (NKSD)

Funding Acknowledgements

We thank the Norwegian Restricted Growth Association (NiK) for their collaboration and support in the project; the Laboratory of Clinical Chemistry, Oslo University Hospital, for performing the blood sample analyses; and Mikael Petersson, AMRA Medical AB, for assistance with the statistical analysis. Most of all we thank all the participants for their time and effort in participating in the study. The Norwegian Adult Achondroplasia Study was funded by a grant from the Dam Foundation (project number 2019/FO249324). The MRI investigations in this study were funded by grants from The Norwegian National Advisory Unit on Rare Disorders (NKSD), project numbers 226038 and 226053. The funding organizations had no part in the design and conduct of the study, collection, management, analysis, and interpreting of the data; preparation, review, or approval of the manuscript; or decision to submit the manuscript for publication.