Referanser til nettinformasjon om Loeys Dietz' syndrom

​1. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature genetics. 2005;37[3]:275-81.

2. Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. American journal of medical genetics Part C, Seminars in medical genetics. 2015;169c[1]:6-22.

3. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews[R]. Seattle [WA]: University of Washington, Seattle University of Washington, Seattle. All rights reserved.; 1993.

4. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. The New England journal of medicine. 2006;355[8]:788-98.

5. MacCarrick G, Black JH, 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genetics in medicine : official journal of the American College of Medical Genetics. 2014;16[8]:576-87.

6. Aida M, Gillis E, Morisaki H,  Verhagen j et al. Mutations in TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections. J Am Coll Cardiol 2015;65:1324-36

7. Fuhrhop SK, McElroy MJ, Dietz HC, 3rd, MacCarrick GL, Sponseller PD. High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. J Bone Joint Surg Am. 2015;97[5]:411-9.

8. Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, et al. Adult surgical experience with Loeys-Dietz syndrome. Ann Thorac Surg. 2015;99[4]:1275-81.

9. Aalberts JJ, van den Berg MP, Bergman JE, du Marchie Sarvaas GJ, Post JG, van Unen H, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation. 2008;16[9]:299-304.

10. Cronin J, Bazick Cuschieri H, Dong X, Oswald G, Russo M, Dietz H, et al. Anesthesia considerations for cesarean delivery in a patient with Loeys-Dietz syndrome. A & A case reports. 2015;4[4]:47-8.

11. Gutman G, Baris HN, Hirsch R, Mandel D, Yaron Y, Lessing JB, et al. Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. Fetal Diagn Ther. 2009;26[1]:35-7.

12. Cheng A, Owens D. Marfan syndrome, inherited aortopathies and exercise: What is the right answer? British journal of sports medicine. 2016;50(2):100-104.

13. Pelliccia A, Fagard R, Bjornstad HH, Anastassakis A, Arbustini E, Assanelli D, et al. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. European heart journal. 2005;26(14):1422-1445.

14. Braverman AC, Harris KM, Kovacs RJ, Maron BJ. Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 7: Aortic Diseases, Including Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology. Circulation. 2015;132(22):e303-309.

15. Chaddha A, Eagle KA, Braverman AC, Kline-Rogers E, Hirsch AT, Brook R, et al. Exercise and Physical Activity for the Post-Aortic Dissection Patient: The Clinician's Conundrum. Clinical cardiology. 2015;38(11):647-651.

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