title: Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.
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.
authors.forename: Eva
authors.initials: E
authors.lastname: Klásková
authors.forename: Jiřina
authors.initials: J
authors.lastname: Zapletalová
authors.forename: Sabina
authors.initials: S
authors.lastname: Kaprálová
authors.forename: Marta
authors.initials: M
authors.lastname: Šnajderová
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
authors.forename: Zbyněk
authors.initials: Z
authors.lastname: Tüdös
authors.forename: Jan
authors.initials: J
authors.lastname: Pavlíček
authors.forename: Jana
authors.initials: J
authors.lastname: Černá
authors.forename: Vladimír
authors.initials: V
authors.lastname: Mihál
authors.forename: Veronika
authors.initials: V
authors.lastname: Stará
authors.forename: Martin
authors.initials: M
authors.lastname: Procházka
mesh_terms: D000293:Adolescent; D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities*; D000082882:Bicuspid Aortic Valve Disease; D015415:Biomarkers / Q000032:analysis*; D002648:Child; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics; D003430:Cross-Sectional Studies; D018153:Czech Republic / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D006349:Heart Valve Diseases / Q000453:epidemiology* / Q000209:etiology; D006801:Humans; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D011446:Prospective Studies; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: D015415:Biomarkers