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Ultrasound Assessment of Endothelial-Dependent Flow-Mediated Vasodilation of the Brachial Artery in Clinical Research
Published on: October 22, 2014
Vascular endothelial dysfunction and echocardiographic changes in male and female patients with Fabry disease: a
Radosław Dziedzic1,2, Piotr Kuszmiersz2,3, Magdalena Szuścik4
1Doctoral School of Medical and Health Sciences, Jagiellonian University Medical College, św. Łazarza 16, Kraków, 31-530, Poland.
Insights
Fabry disease patients show impaired vascular function and arterial thickening, linked to cardiac changes. Non-invasive tests like flow-mediated dilatation (FMD) and intima-media thickness (IMT) assess these Fabry disease (FD) markers.
Area of Science:
- Cardiovascular Medicine
- Genetics and Inherited Diseases
- Biomedical Diagnostics
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder causing glycosphingolipid accumulation and vascular endothelial dysfunction.
- Patients with FD exhibit advanced atherosclerosis (increased intima-media thickness, IMT) and endothelial injury (impaired flow-mediated dilatation, FMD), increasing cardiovascular risk.
- Echocardiography can reveal cardiac changes in FD, potentially correlating with endothelial dysfunction, but sex-specific data are limited.
Purpose of the Study:
- To evaluate endothelial function and echocardiographic changes in Polish Fabry disease patients.
- To investigate the relationship between endothelial function, arterial wall thickening, and cardiac abnormalities in FD.
- To explore potential sex differences in vascular parameters within the FD cohort.
Main Methods:
- Assessed brachial artery flow-mediated dilatation (FMD) and common carotid artery intima-media thickness (IMT).
- Performed transthoracic echocardiography to evaluate cardiac involvement.
- Included 31 FD patients (17 male, 14 female) and 31 matched controls, all without prior cardiovascular events.
Main Results:
- FD patients demonstrated significantly reduced FMD (54.8%) and increased IMT (25.0%) compared to controls (p < 0.001).
- Echocardiography revealed increased left ventricular wall thickness, reduced ejection fraction, and higher pulmonary artery systolic pressure in FD patients (p < 0.001).
- No significant differences in FMD or IMT were found between male and female FD patients.
Conclusions:
- Fabry disease is associated with significant vascular endothelial dysfunction and subclinical arterial wall thickening.
- These vascular abnormalities correlate with characteristic echocardiographic findings in FD patients.
- Non-invasive methods like FMD and IMT are valuable for assessing vascular involvement in Fabry disease, with no observed sex differences in these markers.
Introduction:
Fabry disease (FD) is a progressive X-linked lysosomal storage disorder characterized by the accumulation of pathological glycosphingolipids in a wide range of cells, leading, among others, to vascular endothelial dysfunction. Advanced atherosclerosis, indicated by increased intima-media thickness (IMT), and endothelial injury, characterized by impaired arterial flow-mediated dilatation (FMD), are associated with a higher cardiovascular risk seen in these patients. Next, echocardiography may provide non-invasive insight into cardiac changes that may also correlate with endothelial dysfunction in FD. However, evidence on that relationship is scarce, especially regarding sex differences. Therefore, we aimed to evaluate endothelial function together with echocardiographic changes in a cohort of Polish FD patients.
Patients And Methods:
We assessed brachial artery FMD, measured common carotid artery IMT, and performed transthoracic echocardiography to evaluate cardiac involvement in 31 FD patients without cardiovascular events in medical history (17 male and 14 female patients) and 31 controls matched by age, sex, and body mass index (BMI).
Results:
FD patients exhibited a 54.8% reduction in FMD response and a 25.0% increase in IMT thickness compared to controls (p < 0.001 for both, also after adjustment for sex, age, and BMI). In echocardiography, FD exhibited increased left ventricular wall thickness, a slightly reduced ejection fraction, and a higher pulmonary artery systolic pressure compared to the controls (p < 0.001 for all, also after adjustment for sex, age, and BMI). There were several associations between FMD/IMT and echocardiographic parameters. No differences in FMD or IMT were observed when comparing male and female FD patients.
Conclusions:
Fabry disease is associated with vascular endothelial dysfunction and subclinical arterial wall thickening, as reflected by reduced FMD and increased IMT, respectively. No significant sex-related differences in FMD or IMT were observed in our FD patient group. Overall, these parameters were associated with echocardiographic abnormalities characteristic for FD. Importantly, all of these parameters can be assessed using non-invasive diagnostic methods.
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