Abstract
Background:
Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV.
Methods:
Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups−45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13). Prevalence of BAV and odds ratio (OR) compared with the general population in the whole study group, and statistical comparison of prevalences of BAV among the individual subgroups were determined.
Results:
Prevalence of BAV in the whole study group was established as 28.4% [OR 208.3 (95% CI – 103.8–418.0); p-value<0.0001]. Individuals with 45,X karyotype had the highest prevalence of BAV – 40.7%, p-value<0.0001. Presence of any 45,X cell line in karyotype significantly predisposed to BAV (p-value=0.05).
Conclusions:
The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.
Acknowledgments
The authors are very grateful to Dr. Věra Lánská from Department of Statistics, Institute for Clinical and Experimental Medicine, Prague, Czech Republic for the statistical consultation.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. EK participated in the design and coordination of the study, carried out the chart review, performed echocardiographic studies, and drafted the manuscript. JZ, MŠ, JČ conceived of the study, participated in its design and coordination, and helped to draft the manuscript. ZT reread all MRI studies. JP, VS performed echocardiographic studies SK assisted in data collection. JL, VM assisted in the chart review. MP participated in the study design, genetic consultations, data interpretation.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) 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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