New fibrillin gene mutation ? possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A5267" target="_blank" >RIV/00216208:11110/09:5267 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/67985807:_____/09:00333476 RIV/00064165:_____/09:5267 RIV/00216208:11120/09:43900966

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

New fibrillin gene mutation ? possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results

Popis výsledku v původním jazyce

Approximately 10% of patients who undergo surgery for aortic valve disease (stenosis or regurgitation) suffer from ascending aortic dilation (AAD). A possible genetic etiology of AAD associated with aortic valve disease has been repeatedly mentioned in the literature, but a specific responsible gene mutation has not been described. RESULTS: Analysis of the intronic part situated close to exon 27 showed insertion of cytosine between nucleotide 37 682 and 37 683 of query sequence. This insertions was classified as IVS 37 682 and 37 683insC. This mutation was found in all 27 patients from group A (patients with structural aortic valve disease accompanied by significant AAD). The abovementioned mutation was not found in any of the 29 patients from group B.CONCLUSIONS: This finding has potential implications for risk stratification and therapeutic targeting not only for patients with existing disease, but also for the general population.

Název v anglickém jazyce

New fibrillin gene mutation ? possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results

Popis výsledku anglicky

Approximately 10% of patients who undergo surgery for aortic valve disease (stenosis or regurgitation) suffer from ascending aortic dilation (AAD). A possible genetic etiology of AAD associated with aortic valve disease has been repeatedly mentioned in the literature, but a specific responsible gene mutation has not been described. RESULTS: Analysis of the intronic part situated close to exon 27 showed insertion of cytosine between nucleotide 37 682 and 37 683 of query sequence. This insertions was classified as IVS 37 682 and 37 683insC. This mutation was found in all 27 patients from group A (patients with structural aortic valve disease accompanied by significant AAD). The abovementioned mutation was not found in any of the 29 patients from group B.CONCLUSIONS: This finding has potential implications for risk stratification and therapeutic targeting not only for patients with existing disease, but also for the general population.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

<a href="/cs/project/1M06014" target="_blank" >1M06014: Centrum biomedicínské informatiky (CBI)</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2009

Kód důvěrnosti údajů

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

Název periodika

International Journal of Angiology

ISSN

1061-1711

e-ISSN

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Svazek periodika

18

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

CA - Kanada

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

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EID výsledku v databázi Scopus

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