Aortic dissection and aortic aneurysm are among the leading causes of early death in Turner syndrome. Yet the evidence guiding their management is far thinner than for Marfan syndrome, another connective tissue disorder with a fragile aorta. A study published in Circulation Journal uses Japan’s national inpatient database to answer a very specific question: when a woman with Turner syndrome is admitted with an aortic dissection or aneurysm, does she fare worse than other women?
To find out, the authors turned to the Diagnosis Procedure Combination database, which covers admissions at a large sample of Japanese hospitals, and selected every adult woman aged 16 to 61 admitted for a first aortic dissection or aneurysm between 2010 and 2022. That yielded 10,927 patients. Of these, 29 (0.27%) had Turner syndrome and 686 (6.3%) had Marfan syndrome. The primary outcome was death during the admission, and the association with each syndrome was estimated by multivariable logistic regression, using women with neither condition as the common reference group.
The gap was striking. Among patients with Turner syndrome, the odds of dying in hospital after an aortic dissection or aneurysm were 5.35 times those of the reference group, with a 95% confidence interval of 1.61 to 17.8. In Marfan syndrome, by contrast, no significant association with in-hospital mortality was found: the odds ratio was 0.72, with an interval of 0.44 to 1.17 that crosses one. The study also compared how the two groups arrived at hospital: unscheduled admission was similar in Turner syndrome and less frequent in Marfan syndrome than in the reference group.
The contrast between the two syndromes is the most uncomfortable part of the result. Marfan syndrome has been at the centre of aortic surveillance programmes for decades, with established echocardiographic follow-up pathways and well-defined surgical thresholds; Turner syndrome, by contrast, was for years viewed mainly through the lenses of growth and fertility. That in-hospital mortality should be worse precisely in the group with the weaker aortic surveillance culture fits the argument the authors make in their conclusions: awareness of aortic risk in this population needs to be raised. The abstract does not explore mechanisms, so any further explanation — later diagnosis, atypical presentations, hypertension, bicuspid aortic valve, coarctation, smaller body size with different diameter thresholds, or lack of referral to specialist centres — is a plausible hypothesis, not a finding of the study.
The figures deserve cautious reading. The number of Turner syndrome patients is small, just 29, which produces a very wide confidence interval, from 1.61 to 17.8: the study establishes that excess mortality exists but cannot pin it down precisely. It is also an administrative registry based on discharge codes, with no information on aortic diameter at admission, type of dissection, time to surgery or exact cause of death, and it reflects the Japanese health system. Nor does it measure the risk of suffering a dissection, only the outcome of those already admitted with one: those are two different questions and should not be conflated.
Even with those limits, the clinical message is hard to dodge. If a woman with Turner syndrome reaches hospital with an aortic dissection or aneurysm, the margin for error is narrower than in other patients, and that has practical consequences: aortic surveillance maintained throughout adult life, a low threshold for repeat imaging when chest or back symptoms appear, strict blood pressure control, and early referral to teams with aortic expertise once dilatation is detected. The study does not change how the condition is diagnosed, but it does underline where arriving late is least affordable.
Source: Aortic Dissection or Aneurysm and In-Hospital Mortality in Patients With Turner Syndrome – A Retrospective Cohort Study in Japan. Ikeda Kurakawa K, Okada A, Kawai M, et al. Circulation Journal 2026;90(10):1453-1462. DOI: 10.1253/circj.cj-26-0128.
Read the publication: https://doi.org/10.1253/circj.cj-26-0128 · PubMed: PMID 42633938
