onr:"swepub:oai:DiVA.org:umu-56903"
Sökning: onr:"swepub:oai:DiVA.org:umu-56903" > Prevalence, mutatio...
- 1 av 1
- Föregående post
- Nästa post
- Till träfflistan
- Winbo, Annika,1978-Umeå universitet,Pediatrik (författare)
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden
- Artikel/kapitelEngelska2012
Förlag, utgivningsår, omfång ...
- 2012-04-26
- Oxford University Press (OUP),2012
- printrdacarrier
Nummerbeteckningar
- LIBRIS-ID:oai:DiVA.org:umu-56903
- https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-56903URI
- https://doi.org/10.1093/europace/eus111DOI
Kompletterande språkuppgifter
- Språk:engelska
- Sammanfattning på:engelska
Ingår i deldatabas
- SwePubSwePub
Klassifikation
Anmärkningar
- AIMS: To explore the national prevalence, mutation spectrum, cardiac phenotype, and outcome of the uncommon Jervell and Lange-Nielsen syndrome (JLNS), associated with a high risk of sudden cardiac death.METHODS AND RESULTS: A national inventory of clinical JLNS cases was performed. Genotype and area of origin were ascertained in index families. Retrospective clinical data were collected from medical records and interviews. We identified 19 cases in 13 Swedish families. A JLNS prevalence >1:200 000 was revealed (five living cases <10 years of age). The mutation spectrum consisted of eight KCNQ1 mutations, whereof p.R518X in 12/24 alleles. Geographic clustering of four mutations (20/24 alleles) and similarities to Norway's mutation spectrum were seen. A high prevalence of heterozygotes was suggested. Three paediatric cases on β-blockers since birth were as yet asymptomatic. Seven symptomatic cases had suffered an aborted cardiac arrest and four had died suddenly. QTc prolongation was significantly longer in symptomatic cases (mean 605 ± 62 vs. 518 ± 50 ms, P = 0.016). β-Blockers reduced, but did not abolish, cardiac events in any previously symptomatic case. β-Blocker type, dosage, and compliance probably affect outcome significantly. Implantable cardioverter-defibrillator therapy (ICD, n = 6) was associated with certain complications; however, no case of sudden death.CONCLUSION: Founder effects could explain 83% of the Swedish JLNS mutation spectrum and probably contribute to the high JLNS prevalence found in preadolescent Swedish children. Due to the severe cardiac phenotype in JLNS, the importance of stringent β-blocker therapy and compliance, and consideration of ICD implantation in the case of therapy failure is stressed.
Ämnesord och genrebeteckningar
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Kardiologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Cardiac and Cardiovascular Systems hsv//eng
- Jervell and Lange-Nielsen syndrome
- Founder effects
- KCNQ1 gene
- Cardiac phenotype
- Therapy efficacy
Biuppslag (personer, institutioner, konferenser, titlar ...)
- Stattin, Eva-LenaUmeå universitet,Medicinsk och klinisk genetik(Swepub:umu)evst0015 (författare)
- Diamant, Ulla-BrittUmeå universitet,Kardiologi(Swepub:umu)uldi0001 (författare)
- Persson, JohanUmeå universitet,Pediatrik (författare)
- Jensen, Steen MUmeå universitet,Kardiologi(Swepub:umu)stje0001 (författare)
- Rydberg, AnnikaUmeå universitet,Pediatrik(Swepub:umu)anry0014 (författare)
- Umeå universitetPediatrik (creator_code:org_t)
Sammanhörande titlar
- Ingår i:Europace: Oxford University Press (OUP)14:12, s. 1799-18061099-51291532-2092
Internetlänk
- 1 av 1
- Föregående post
- Nästa post
- Till träfflistan
Hitta mer i SwePub
- Av författaren/redakt...
- Winbo, Annika, 1 ...
- Stattin, Eva-Len ...
- Diamant, Ulla-Br ...
- Persson, Johan
- Jensen, Steen M
- Rydberg, Annika
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
- MEDICIN OCH HÄLS ...
- och Klinisk medicin
- och Kardiologi
- Artiklar i publikationen
- Europace
- Av lärosätet
- Umeå universitet
Sök utanför SwePub
- Sök vidare i:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - Nationella bibliotekssystem
- LIBRIS.kb.se
