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bioRxiv · 10.64898/2026.07.21.739835

Imaging-Based Age- and Sex-specific Cardiovascular and Skeletal Phenotypes in Fbn1C1041G/+ Mice

Liu, W.·Li, S.·Zhang, X.·Su, L.·Lin, H.·Li, P.·Liu, J.·Niu, Y.
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Abstract

Marfan syndrome is a multisystem connective tissue disorder with age-dependent and sex-dependent phenotypic variability. This study characterized early cardiovascular, valvular, transmitral flow, and skeletal changes in Fbn1C1041G/+ mice. Male and female wild-type and Fbn1C1041G/+ mice were examined from 4 to 20 weeks of age. Transthoracic echocardiography was used to measure aortic root and ascending aortic diameters, anterior mitral leaflet length, and mitral inflow Doppler parameters. Lateral X-ray imaging was used to quantify kyphosis angle. Fbn1C1041G/+ mice of both sexes developed progressive aortic dilation, with earlier and broader aortic root involvement in males and delayed annular dilation in females. Anterior mitral leaflet elongation was detected from 8 weeks in males and at 20 weeks in females. In contrast, reduced E-wave velocity and E/A ratio were present from 4 weeks in both sexes, without changes in A-wave velocity. Kyphosis was detectable earlier in females than in males. These findings show that early Fbn1-related phenotypes follow organ-specific and sex-dependent temporal patterns, supporting age-resolved and sex-stratified assessment in preclinical Marfan syndrome studies.

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Liu, W., Li, S., Zhang, X., Su, L., Lin, H., Li, P., Liu, J., Niu, Y.. 2026-07-24. Imaging-Based Age- and Sex-specific Cardiovascular and Skeletal Phenotypes in Fbn1C1041G/+ Mice. https://doi.org/10.64898/2026.07.21.739835

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