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LQTS founder population in Northern Sweden – the natural history of a potentially fatal inherited cardiac disorder
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.ORCID iD: 0000-0002-1811-225X
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics. Department of Physiology, University of Auckland, Auckland, New Zealand.ORCID iD: 0000-0002-9323-3166
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Radiation Physics.
Umeå University, Faculty of Social Sciences, Centre for Demographic and Ageing Research (CEDAR).ORCID iD: 0000-0001-7439-002x
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2021 (English)In: Biodemography and Social Biology, ISSN 1948-5565, E-ISSN 1948-5573, Vol. 66, no 3-4, p. 191-207Article in journal (Refereed) Published
Abstract [en]

Long QT Syndrome (LQTS) is an autosomal dominant inherited cardiac disorder associated with life-threatening arrhythmias. In northern Sweden, a LQTS founder mutation (p.Y111C, KCNQ1 gene) was verified by genetic haplotype analysis and genealogical studies, and a common ancestor couple was identified. Clinical studies of this population revealed an apparent mild phenotype. However, due to early commencement of prophylactic treatment, the natural history of this disorder cannot be properly assessed based only on clinical data. By using the family tree mortality ratio method (FTMR), we assessed the natural history of the untreated LQTS founder population. The principle of FTMR is to compare the age-specific mortality rates in a historic population harboring an inherited disorder with the corresponding mortality rates in an unaffected control population.

Initially, we used the general Swedish population during the same period for comparison and observed an apparent increased longevity in the p.Y111C study population. However, when using a control population born in the same area, we observed no differences regarding overall mortality. Moreover, patterns suggesting age- and sex-stratified excess mortality, in accordance with previous LQTS studies, were evident.

This study shows the importance of being aware of historical demographic patterns to avoid misinterpreting when comparing historical data.

Place, publisher, year, edition, pages
Routledge, 2021. Vol. 66, no 3-4, p. 191-207
National Category
Cardiac and Cardiovascular Systems
Identifiers
URN: urn:nbn:se:umu:diva-189842DOI: 10.1080/19485565.2021.1999788ISI: 000717366500001PubMedID: 34761968Scopus ID: 2-s2.0-85119139494OAI: oai:DiVA.org:umu-189842DiVA, id: diva2:1613636
Funder
Swedish Heart Lung Foundation, 20120244Available from: 2021-11-23 Created: 2021-11-23 Last updated: 2022-10-03Bibliographically approved

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Diamant, Ulla-BrittWinbo, AnnikaEdvinsson, Sören

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