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Low incidence of su...
Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population
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- Winbo, Annika, 1978- (author)
- Umeå universitet,Pediatrik
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- Diamant, Ulla-Britt (author)
- Umeå universitet,Medicin,Pediatrik
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- Stattin, Eva-Lena (author)
- Umeå universitet,Medicinsk och klinisk genetik
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- Jensen, Steen M (author)
- Umeå universitet,Medicin
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- Rydberg, Annika (author)
- Umeå universitet,Pediatrik
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(creator_code:org_t)
- Philadelphia, PA : Lippincott Williams & Wilkins, 2009
- 2009
- English.
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In: Circulation. - Philadelphia, PA : Lippincott Williams & Wilkins. - 1942-325X .- 1942-3268. ; 2:6, s. 558-564
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Keyword
- death
- sudden
- genetics
- ion channels
- long-QT syndrome
- survival
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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