onr:"swepub:oai:DiVA.org:umu-32464"
Sökning: onr:"swepub:oai:DiVA.org:umu-32464" > Low incidence of su...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03365naa a2200397 4500 | |
| 001 | oai:DiVA.org:umu-32464 | |
| 003 | SwePub | |
| 008 | 100311s2009 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-324642 URI |
| 024 | 7 | a https://doi.org/10.1161/CIRCGENETICS.108.8255472 DOI |
| 040 | a (SwePub)umu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Winbo, Annika,d 1978-u Umeå universitet,Pediatrik4 aut0 (Swepub:umu)anawio99 |
| 245 | 1 0 | a Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population |
| 264 | 1 | a Philadelphia, PA :b Lippincott Williams & Wilkins,c 2009 |
| 338 | a print2 rdacarrier | |
| 520 | a Background: A 10% cumulative incidence and a 0.3% per year incidence rate of sudden cardiac death in patients younger than 40 years and without therapy have been reported in type 1 long-QT syndrome. The Y111C-KCNQ1 mutation causes a severe phenotype in vitro, suggesting a high-risk mutation. This study investigated the phenotype among Y111C-KCNQ1 mutation carriers in the Swedish population with a focus on life-threatening cardiac events.Methods and Results: We identified 80 mutation carriers in 15 index families, segregating the Y111C-KCNQ1 mutation during a national inventory of mutations causing the long-QT syndrome. Twenty-four mutation carriers <40 years experienced syncope (30%). One mutation carrier had an aborted cardiac arrest (1.25%). No case of sudden cardiac death was reported during a mean nonmedicated follow-up of 25±20 years. This corresponds to a low incidence rate of life-threatening cardiac events (0.05%/year versus 0.3%/year, P=0.025). In 8 Y111C families connected by a common ancestor, the natural history of the mutation was assessed by investigating the survival over the age of 40 years for 107 nonmedicated ascertained mutation carriers (n=24) and family members (n=83) born between 1873 and 1968. In total, 4 deaths in individuals younger than 40 years were noted: 1 case of noncardiac death and 3 infant deaths between 1873 and 1915.Conclusions: The dominant-negative Y111C-KCNQ1 mutation, associated with a severe phenotype in vitro, presents with a low incidence of life-threatening cardiac events in a Swedish population. This finding of discrepancy emphasizes the importance of clinical observations in the risk stratification of long-QT syndrome. | |
| 653 | a death | |
| 653 | a sudden | |
| 653 | a genetics | |
| 653 | a ion channels | |
| 653 | a long-QT syndrome | |
| 653 | a survival | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Diamant, Ulla-Brittu Umeå universitet,Medicin,Pediatrik4 aut0 (Swepub:umu)uldi0001 |
| 700 | 1 | a Stattin, Eva-Lenau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)evst0015 |
| 700 | 1 | a Jensen, Steen Mu Umeå universitet,Medicin4 aut0 (Swepub:umu)stje0001 |
| 700 | 1 | a Rydberg, Annikau Umeå universitet,Pediatrik4 aut0 (Swepub:umu)anry0014 |
| 710 | 2 | a Umeå universitetb Pediatrik4 org |
| 773 | 0 | t Circulationd Philadelphia, PA : Lippincott Williams & Wilkinsg 2:6, s. 558-564q 2:6<558-564x 1942-325Xx 1942-3268 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-32464 |
| 856 | 4 8 | u https://doi.org/10.1161/CIRCGENETICS.108.825547 |
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