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Updated: Mar 12, 2026
Assessment of Cardiac Morphological and Functional Changes in Mouse Model of Transverse Aortic Constriction by Echocardiographic Imaging
Published on: June 21, 2016
Aortic and Cardiac Structure and Function Using High-Resolution Echocardiography and Optical Coherence Tomography in
Ling Lee1,2, Jason Z Cui1,3, Michelle Cua4
1Child and Family Research Institute, Department of Cardiovascular Sciences, Vancouver, BC, Canada.
Abstract:
Marfan syndrome (MFS) is an autosomal-dominant disorder of connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mortality is often due to aortic dissection and rupture. We investigated the structural and functional properties of the heart and aorta in a [Fbn1C1039G/+] MFS mouse using high-resolution ultrasound (echo) and optical coherence tomography (OCT). Echo was performed on 6- and 12-month old wild type (WT) and MFS mice (n = 8). In vivo pulse wave velocity (PWV), aortic root diameter, ejection fraction, stroke volume, left ventricular (LV) wall thickness, LV mass and mitral valve early and atrial velocities (E/A) ratio were measured by high resolution echocardiography. OCT was performed on 12-month old WT and MFS fixed mouse hearts to measure ventricular volume and mass. The PWV was significantly increased in 6-mo MFS vs. WT (366.6 ± 19.9 vs. 205.2 ± 18.1 cm/s; p = 0.003) and 12-mo MFS vs. WT (459.5 ± 42.3 vs. 205.3 ± 30.3 cm/s; p< 0.0001). PWV increased with age in MFS mice only. We also found a significantly enlarged aortic root and decreased E/A ratio in MFS mice compared with WT for both age groups. The [Fbn1C1039G/+] mouse model of MFS replicates many of the anomalies of Marfan patients including significant aortic dilation, central aortic stiffness, LV systolic and diastolic dysfunction. This is the first demonstration of the direct measurement in vivo of pulse wave velocity non-invasively in the aortic arch of MFS mice, a robust measure of aortic stiffness and a critical clinical parameter for the assessment of pathology in the Marfan syndrome.
Insights
Marfan syndrome (MFS) in mice shows increased aortic stiffness and heart dysfunction. This study non-invasively measured pulse wave velocity, revealing age-related aortic changes in MFS mice.
Area of Science:
- Cardiovascular Research
- Genetics and Heritable Diseases
- Medical Imaging
Background:
- Marfan syndrome (MFS) is an inherited connective tissue disorder caused by FBN1 gene mutations.
- MFS commonly leads to life-threatening aortic dissection and rupture.
- Understanding MFS pathophysiology in preclinical models is crucial for developing effective treatments.
Purpose of the Study:
- To investigate cardiac and aortic structural and functional changes in a mouse model of Marfan syndrome ([Fbn1C1039G/+]).
- To assess aortic stiffness using in vivo pulse wave velocity (PWV) measurements.
- To characterize left ventricular (LV) and mitral valve function in MFS mice.
Main Methods:
- Utilized high-resolution ultrasound (echocardiography) and optical coherence tomography (OCT) in wild-type (WT) and MFS mice.
- Measured in vivo PWV, aortic root diameter, LV dimensions, and mitral valve velocities.
- Analyzed fixed hearts with OCT for ventricular volume and mass.
Main Results:
- Significantly increased PWV in MFS mice compared to WT at 6 and 12 months, with PWV increasing with age only in MFS mice.
- Demonstrated significantly enlarged aortic root diameter and decreased E/A ratio in MFS mice across both age groups.
- The [Fbn1C1039G/+] mouse model accurately replicates key MFS cardiovascular anomalies, including aortic dilation and stiffness.
Conclusions:
- The [Fbn1C1039G/+] mouse model is a valuable tool for studying Marfan syndrome cardiovascular pathology.
- Non-invasive in vivo measurement of PWV in MFS mice provides a robust assessment of aortic stiffness.
- Findings highlight significant aortic and cardiac dysfunction in MFS mice, mirroring human disease progression.
