All-cause mortality and death by aortic dissection in women with Turner syndrome : A national clinical cohort study
(2025) In American Heart Journal 281. p.1-9- Abstract
Background: Turner syndrome (TS) is a complex genetic disorder with raised mortality. Our objective was to investigate mortality and causes of death in TS. Methods: A matched retrospective observational study of women with TS recruited from the Turner centers in Sweden were conducted. A total of 472 women with TS, ≥16 years old with a cytogenetically verified diagnosis and 2357 controls, matched for birthyear and sex, were examined and followed since 1995 for up to 26 years. Survival analyses were performed with Cox proportional hazard models. Kaplan-Meier curves were generated. Cumulative incidence rates were evaluated by competing risks analysis, using cumulative incidence function. Results: During a mean follow-up of 17 years, 35... (More)
Background: Turner syndrome (TS) is a complex genetic disorder with raised mortality. Our objective was to investigate mortality and causes of death in TS. Methods: A matched retrospective observational study of women with TS recruited from the Turner centers in Sweden were conducted. A total of 472 women with TS, ≥16 years old with a cytogenetically verified diagnosis and 2357 controls, matched for birthyear and sex, were examined and followed since 1995 for up to 26 years. Survival analyses were performed with Cox proportional hazard models. Kaplan-Meier curves were generated. Cumulative incidence rates were evaluated by competing risks analysis, using cumulative incidence function. Results: During a mean follow-up of 17 years, 35 (7.4%) women with TS and 70 (3.0%) controls died. All-cause mortality was elevated in TS, hazard ratio (HR) 2.90 (95% CI 1.92-4.37), mainly due to circulatory diseases and notably aortic dissection, with HR of 9.11 (95% CI 4.54-18.25) and 21.79 (95% CI 4.62-102.82), respectively. Aortic dissection was the single largest cause of death in TS, accounting for 23% (8/35) of total deaths. Death by cancer or external causes were not raised in TS. In individuals below 45 years of age death, aortic dissections were greatly increased compared to controls, HR 55.59 (95% CI 2.33-1325.69). From the ages 46 to 80 years a notably higher risk of dying by heart diseases, aortic dissection excluded, was shown in TS compared to controls HR, 7.7 (2.65-22.36). The median survival time was 8 years shorter in TS compared to controls. Conclusions: The increased mortality in TS was mainly driven by aortic dissections in the young and by heart diseases in the older. Healthcare professionals should prioritize detection and monitoring, with emphasis on cardiovascular diseases.
(Less)
- author
- organization
- publishing date
- 2025
- type
- Contribution to journal
- publication status
- published
- subject
- in
- American Heart Journal
- volume
- 281
- pages
- 9 pages
- publisher
- Mosby-Elsevier
- external identifiers
-
- pmid:39603484
- scopus:85211980969
- ISSN
- 0002-8703
- DOI
- 10.1016/j.ahj.2024.11.007
- language
- English
- LU publication?
- yes
- id
- 7a5a183e-20c1-43d6-8984-8d3f43e8661a
- date added to LUP
- 2025-02-28 12:59:03
- date last changed
- 2025-07-19 01:00:20
@article{7a5a183e-20c1-43d6-8984-8d3f43e8661a,
abstract = {{<p>Background: Turner syndrome (TS) is a complex genetic disorder with raised mortality. Our objective was to investigate mortality and causes of death in TS. Methods: A matched retrospective observational study of women with TS recruited from the Turner centers in Sweden were conducted. A total of 472 women with TS, ≥16 years old with a cytogenetically verified diagnosis and 2357 controls, matched for birthyear and sex, were examined and followed since 1995 for up to 26 years. Survival analyses were performed with Cox proportional hazard models. Kaplan-Meier curves were generated. Cumulative incidence rates were evaluated by competing risks analysis, using cumulative incidence function. Results: During a mean follow-up of 17 years, 35 (7.4%) women with TS and 70 (3.0%) controls died. All-cause mortality was elevated in TS, hazard ratio (HR) 2.90 (95% CI 1.92-4.37), mainly due to circulatory diseases and notably aortic dissection, with HR of 9.11 (95% CI 4.54-18.25) and 21.79 (95% CI 4.62-102.82), respectively. Aortic dissection was the single largest cause of death in TS, accounting for 23% (8/35) of total deaths. Death by cancer or external causes were not raised in TS. In individuals below 45 years of age death, aortic dissections were greatly increased compared to controls, HR 55.59 (95% CI 2.33-1325.69). From the ages 46 to 80 years a notably higher risk of dying by heart diseases, aortic dissection excluded, was shown in TS compared to controls HR, 7.7 (2.65-22.36). The median survival time was 8 years shorter in TS compared to controls. Conclusions: The increased mortality in TS was mainly driven by aortic dissections in the young and by heart diseases in the older. Healthcare professionals should prioritize detection and monitoring, with emphasis on cardiovascular diseases.</p>}},
author = {{Thunström, Sofia and Thunström, Erik and Naessén, Sabine and Berntorp, Kerstin and Laczna Kitlinski, Margareta and Ekman, Bertil and Wahlberg, Jeanette and Bergström, Ingrid and Isaksson, Magnus and Basic, Carmen and Svanvik, Teresia and Bryman, Inger and Landin-Wilhelmsen, Kerstin}},
issn = {{0002-8703}},
language = {{eng}},
pages = {{1--9}},
publisher = {{Mosby-Elsevier}},
series = {{American Heart Journal}},
title = {{All-cause mortality and death by aortic dissection in women with Turner syndrome : A national clinical cohort study}},
url = {{http://dx.doi.org/10.1016/j.ahj.2024.11.007}},
doi = {{10.1016/j.ahj.2024.11.007}},
volume = {{281}},
year = {{2025}},
}