Abstract
Background
Females with Turner syndrome (TS) carry an elevated risk of aortic dissection. The objective of the study was to assess the biophysical properties of the aorta and ambulatory blood pressure (BP) in females with TS and compare these findings to those in healthy female age-matched controls.
Methods
This was a prospective cohort study including subjects aged 8–25 years. Utilizing two-dimensional (2D) echocardiography and Doppler, proximal aortic dimensions were measured and biophysical properties of the aorta were calculated including pulse wave velocity (PWV), arterial pressure-strain elastic modulus and stiffness index. Resting BP was measured and ambulatory blood pressure monitoring (ABPM) was performed.
Results
Of 23 TS patients and 46 controls (median age 16.3 years), aortic annulus, sinus of Valsalva and sinotubular (ST) junction diameters, as well as left ventricular (LV) mass, were significantly greater in TS patients compared with controls when scaled for height2.7, but not for body surface area (BSA), although ascending aorta diameter was greater when scaled for both. Median PWV was faster in TS patients compared to controls (451 vs. 360 cm/s) while arterial pressure-strain elastic modulus and stiffness index were similar. Resting BP was abnormal in seven out of 22 patients and ABPM was abnormal in 16 out of 21 patients.
Conclusions
Young patients with TS had dilated proximal aortas when scaled for height2.7 and stiffer aortas when compared with healthy female age-matched controls. Moreover, resting BP underdiagnosed pre-hypertension and hypertension compared to ABPM. These findings are consistent with the presence of a primary aortopathy in TS.
Acknowledgments
We thank Leslie Raffin who assisted with patient scheduling and data organization. We also thank Lindsey D. Williams and Ramandeep Gill for performing the echocardiograms and Jennifer M. Leechik and Lorraine Nicdao Paz for organizing the ambulatory blood pressure monitoring. Finally, we thank Dr. Linlea Armstrong for her assistance with the classification of karyotypes for the Turner syndrome patients.
Author contributions: Dr. Fox and Dr. Kang co-wrote the first draft of the manuscript. They contributed to the study design, patient recruitment, data collection and data interpretation and edited the manuscript. Dr. Sandor and Dr. Stewart contributed to the study design, assisted with data collection, contributed to data interpretation and edited the manuscript. Dr. Bradley collected the control subjects’ data and edited the manuscript. Dr. Potts and Dr. Dionne contributed to the study design, performed the data analysis, contributed to data interpretation and edited the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Funding: This work was supported by Rare Disease Foundation, grant KRZ38144 (2013) and Department of Pediatrics Resident Research Grant, University of British Columbia (2012).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organizations played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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