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  • Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
  • Carlson M; Silberbach M
  • J Med Genet 2007[Dec]; 44 (12): 745-9
  • Girls and women with Turner syndrome are at risk for catastrophic aortic dissection and rupture, but the clinical profile for those at risk is not well described. In addition to reporting two new cases, we performed an electronic search to identify all reported cases of aortic dissection associated with Turner syndrome. Particular attention was paid to the reporting of systemic hypertension (HTN) and congenital heart disease (CHD) which are known risk factors for aortic disease in the general population. In total, 85 cases of aortic dissection in TS were reported between 1961 and 2006. Dissection occurred at a young age, 30.7 (range 4-64) years, which is significantly earlier than its occurrence in the general female population (68 years). Of the cases for which HTN and CHD were explicitly assessed, 15% had HTN alone, 30% had CHD alone and 34% had both. Importantly, in 11% of the cases, neither HTN nor CHD were identified, suggesting that TS alone is an independent risk factor for aortic dissection; however, the cases where no risk factors were identified were very poorly documented. Dissection in women with TS undergoing assisted reproductive techniques (ART) frequently resulted in death. The literature on aortic dissection in TS is sparse and most cases are poorly documented, making it difficult to establish firm guidelines regarding monitoring and treatment. A TS aortic dissection registry has been established to better determine the natural history and risk factors ( = 3092).
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Aneurysm, Dissecting/epidemiology/*etiology[MESH]
  • |Aortic Aneurysm/diagnosis/epidemiology/*etiology[MESH]
  • |Aortic Rupture/etiology[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Comorbidity[MESH]
  • |Diagnostic Errors[MESH]
  • |Fatal Outcome[MESH]
  • |Female[MESH]
  • |Gastritis/diagnosis[MESH]
  • |Heart Arrest/etiology[MESH]
  • |Heart Defects, Congenital/complications/epidemiology[MESH]
  • |Humans[MESH]
  • |Hypertension/complications/epidemiology[MESH]
  • |Middle Aged[MESH]
  • |Pregnancy[MESH]
  • |Pregnancy Complications, Cardiovascular/etiology[MESH]
  • |Pulmonary Embolism/diagnosis[MESH]
  • |Registries[MESH]
  • |Reproductive Techniques, Assisted[MESH]
  • |Risk Factors[MESH]
  • |Turner Syndrome/*complications/genetics[MESH]

  • *{{pmid17873120}}
    *<b>[ Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature ]</b> J Med Genet 2007; 44(12) ; 745-9 Carlson M; Silberbach M


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    J Med Genet

    745 12.44 2007