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An observational study of 102 women with Turner syndrome followed for 6 years with a two-yearly examination including ECHO, MRI of the heart and 24 ambulatory blood pressure. It has been found that besides an significantly increased risk of congenital cardiac malformations, TS have an increased risk of developing cardiac disease including the life threatening condition of aortic dilatation and rupture. The aim of the study is to describe the cardiac conditions of TS, evaluate different methods of examination and identify possible risc factors.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1 | women with Turner syndrome | ||
| 2. | Control women |
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| Measure | Description | Time Frame |
|---|---|---|
| Aortic diameter at 3 well-defined levels measured by MRI and ECHO | 2-yearly for 6 years |
| Measure | Description | Time Frame |
|---|---|---|
| 24hour ambulatory blood pressure | 24h 2-yearly for 6 years |
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Inclusion Criteria:
Exclusion Criteria:
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Recrutted from hospital clinics and through the patient organisation
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36978128 | Derived | Viuff M, Skakkebaek A, Johannsen EB, Chang S, Pedersen SB, Lauritsen KM, Pedersen MGB, Trolle C, Just J, Gravholt CH. X chromosome dosage and the genetic impact across human tissues. Genome Med. 2023 Mar 28;15(1):21. doi: 10.1186/s13073-023-01169-4. | |
| 24923356 | Derived | Trolle C, Mortensen KH, Bjerre M, Hougaard DM, Cohen A, Andersen NH, Gravholt CH. Osteoprotegerin in Turner syndrome - relationship to aortic diameter. Clin Endocrinol (Oxf). 2015 Mar;82(3):397-403. doi: 10.1111/cen.12522. Epub 2014 Jul 2. |
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| ID | Term |
|---|---|
| D014424 | Turner Syndrome |
| D001019 | Aortic Rupture |
| ID | Term |
|---|---|
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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Blood samples
| 23936059 | Derived | Trolle C, Mortensen KH, Pedersen LN, Berglund A, Jensen HK, Andersen NH, Gravholt CH. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. PLoS One. 2013 Jul 25;8(7):e69614. doi: 10.1371/journal.pone.0069614. Print 2013. |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D017542 | Aneurysm, Ruptured |
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D001014 | Aortic Aneurysm |
| D001018 | Aortic Diseases |
| D012421 | Rupture |
| D014947 | Wounds and Injuries |