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An unusual case of aortic dissection in Turner's syndrome
P M Mottram1, S D Robertson, R W Harper
1Department of Cardiology, Monash Medical Centre, Melbourne, Victoria, Australia. pmottram@medicine.pa.uq.edu.au
Insights
Turner syndrome patients often have cardiovascular issues. This case highlights intramural hemorrhage as a rare, fatal complication, emphasizing the need for vigilance and improved management strategies for aortic conditions in these patients.
Area of Science:
- Cardiology
- Genetics
- Vascular Medicine
Background:
- Cardiovascular malformations are prevalent in Turner syndrome.
- Aortic coarctation and bicuspid aortic valve are common, linked to aortic wall changes.
- Aortic dissection is a rare but severe complication of Turner syndrome-associated aortopathy.
Purpose of the Study:
- To report an unusual case of intramural hemorrhage leading to aortic dissection and rupture in a Turner syndrome patient.
- To discuss the unclear role of intramural hemorrhage in acute aortic syndromes in Turner syndrome.
- To underscore the diagnostic and management challenges associated with this condition.
Main Methods:
- Case report of a Turner syndrome patient with a bicuspid aortic valve and prior coarctation repair.
- Autopsy findings revealing intramural hemorrhage of the aortic root without intimal tear.
- Review of clinical presentation, imaging, and outcomes.
Main Results:
- The patient experienced fatal aortic root hemorrhage, dissection, and rupture.
- No evidence of aortic intimal tear was found.
- Intramural hemorrhage may present atypically and is difficult to diagnose via imaging.
Conclusions:
- Intramural hemorrhage is a critical, potentially fatal complication in Turner syndrome patients with cardiovascular abnormalities.
- A high index of suspicion is crucial for patients presenting with chest pain.
- Evidence-based preventive and interventional strategies, including echocardiographic surveillance, are needed for effective management.
Abstract:
Cardiovascular malformations are common in patients with Turner's syndrome. Aortic coarctation and bicuspid aortic valve are the most frequently occurring abnormalities, and are associated with cystic medial necrosis of the aortic wall. Aortic dissection is an uncommon but catastrophic complication of the 'aortopathy' of Turner's syndrome. We report the unusual case of a Turner's syndrome patient (with a bicuspid aortic valve and previous coarctation repair) who died following an intramural haemorrhage of the aortic root that was complicated by dissection and rupture, with no evidence of aortic intimal tear. The role of intramural haemorrhage in the pathogenesis of acute aortic syndromes in Turner's syndrome patients is unclear. The condition may be associated with atypical clinical presentations, it can be difficult to confirm with imaging techniques, and it carries a high risk of progression to classical aortic dissection and death. This case therefore highlights the need for a high index of suspicion when assessing Turner's syndrome patients presenting with chest pain syndromes. Furthermore, the effective management of Turner's syndrome patients with cardiovascular abnormalities requires the development of evidence-based preventive (such as echocardiographic surveillance of aortic dilatation) and interventional strategies.
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