Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: The crucial importance of detailed cardiovascular screening

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F17%3AA1801TW6" target="_blank" >RIV/61988987:17110/17:A1801TW6 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/17:10373858 RIV/61989592:15110/17:73582281 RIV/00843989:_____/17:E0106336 RIV/00064203:_____/17:10373858

Výsledek na webu

<a href="http://dx.doi.org/10.1515/jpem-2016-0301" target="_blank" >http://dx.doi.org/10.1515/jpem-2016-0301</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1515/jpem-2016-0301" target="_blank" >10.1515/jpem-2016-0301</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: The crucial importance of detailed cardiovascular screening

Popis výsledku v původním jazyce

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 &lt; 0.0001]. Individuals with 45, X karyotype had the highest prevalence of BAV -40.7%, p-value &lt; 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.

Název v anglickém jazyce

Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: The crucial importance of detailed cardiovascular screening

Popis výsledku anglicky

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 &lt; 0.0001]. Individuals with 45, X karyotype had the highest prevalence of BAV -40.7%, p-value &lt; 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

ISSN

0334-018X

e-ISSN

2191-0251

Svazek periodika

3/2017

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

6

Strana od-do

319-325

Kód UT WoS článku

000396006000007

EID výsledku v databázi Scopus

2-s2.0-85016007093