All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study - 08/02/25

Doi : 10.1016/j.ahj.2024.11.007

Sofia Thunström, MD ^a,^b,^⁎ , Erik Thunström, MD, PhD, FESC ^c,^d, Sabine Naessén, MD, PhD ^e,^f, Kerstin Berntorp, MD, PhD ^g,^h, Margareta Laczna Kitlinski, MD, PhD ⁱ, Bertil Ekman, MD, PhD ^j,^k, Jeanette Wahlberg, MD, PhD ^l, Ingrid Bergström, MD, PhD ^m, Magnus Isaksson, MD, PhD ⁿ, Carmen Basic, MD, PhD ^c,^d, Teresia Svanvik, MD, PhD ^o,^p, Inger Bryman, MD, PhD ^o, Kerstin Landin-Wilhelmsen, MD, PhD ^b,^q
^a Department of Clinical Genetics, Sahlgrenska University Hospital Gothenburg, Gothenburg, Sweden
^b Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
^c Department of Molecular and Clinical Medicine, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
^d Department of Internal Medicine, Sahlgrenska University Hospital/Ostra, Gothenburg, Sweden
^e Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden
^f Academic Primary Health Care Centre, Region Stockholm, Sweden
^g Genetics and Diabetes Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden
^h Department of Endocrinology, Skåne University Hospital, Malmö, Sweden
ⁱ Center of Reproductive Medicine, Skåne University Hospital, Malmo, Sweden
^j Department of Endocrinology, Linköping University Hospital, Department of Internal Medicine, Norrköping Hospital, Sweden
^k Department of Health, Medicine and Caring Sciences, Linköping Universtiy, Linköping, Sweden
^l Department of Endocrinology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden
^m Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden
ⁿ Department of Medical Sciences, Uppsala University, Uppsala, Sweden
^o Department of Obstetrics and Gynecology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
^p Department of Obstetrics and Gynecology, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden
^q Department of Internal Medicine, Section for Endocrinology, Sahlgrenska University Hospital Gothenburg, Sweden

^⁎Reprint requests: Sofia Thunström, MD, Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Department of Clinical Genetics, Sahlgrenska University Hospital, SE-41345, Gothenburg, Sweden.Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of GothenburgGothenburgSweden

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 (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.

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Plan

Background

Materials and methods

Statistical analysis

Results

Mortality in TS compared to controls

Aortic dissection

Discussion

Mortality in TS compared to controls

Aortic dissection

Strengths and limitations

Conclusions

Data availability

CRediT authorship contribution statement

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All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study - 08/02/25

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