Video Upload Options

References

1. Arslan-Kirchner M, Epplen JT, Faivre L, Jondeau G, Schmidtke J, De Paepe A,Loeys B. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) andrelated phenotypes. Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.68.
2. Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van deBeek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G,van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT,Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM,Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA,Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, WesselsMW, Loeys BL. Mutations in a TGF-β ligand, TGFB3, cause syndromic aorticaneurysms and dissections. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi:10.1016/j.jacc.2015.01.040.
3. Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, SiuSC; Canadian Cardiovascular Society. Canadian Cardiovascular Society positionstatement on the management of thoracic aortic disease. Can J Cardiol. 2014Jun;30(6):577-89. doi: 10.1016/j.cjca.2014.02.018.
4. Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H,Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B,Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA,Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute andchronic aortic diseases of the thoracic and abdominal aorta of the adult. TheTask Force for the Diagnosis and Treatment of Aortic Diseases of the EuropeanSociety of Cardiology (ESC). Eur Heart J. 2014 Nov 1;35(41):2873-926. doi:10.1093/eurheartj/ehu281.1;36(41):2779.
5. Frischmeyer-Guerrerio PA, Guerrerio AL, Oswald G, Chichester K, Myers L,Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC. TGFβ receptor mutations impose a strong predisposition for human allergic disease. Sci Transl Med. 2013 Jul24;5(195):195ra94. doi: 10.1126/scitranslmed.3006448.
6. Kalra VB, Gilbert JW, Malhotra A. Loeys-Dietz syndrome: cardiovascular,neuroradiological and musculoskeletal imaging findings. Pediatr Radiol. 2011Dec;41(12):1495-504; quiz 1616. doi: 10.1007/s00247-011-2195-z.Review.
7. Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ,Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM,Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, BrunnerHG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Loss-of-functionmutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.
8. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF,Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, PyeritzRE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM,Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N EnglJ Med. 2006 Aug 24;355(8):788-98.
9. Luo M, Yang H, Yin K, Chen Q, Zhang J, Fan Y, Zhou Z, Chang Q. Genetic testingof 10 patients with features of Loeys-Dietz syndrome. Clin Chim Acta. 2016 May1;456:144-148. doi: 10.1016/j.cca.2016.02.005.
10. MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Loeys-Dietz syndrome: aprimer for diagnosis and management. Genet Med. 2014 Aug;16(8):576-87. doi:10.1038/gim.2014.11.
11. Teixidó-Tura G, Franken R, Galuppo V, Gutiérrez García-Moreno L, Borregan M,Mulder BJ, García-Dorado D, Evangelista A. Heterogeneity of aortic diseaseseverity in patients with Loeys-Dietz syndrome. Heart. 2016 Apr;102(8):626-32.doi: 10.1136/heartjnl-2015-308535.
12. van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-ZeinstraSM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, MatyasG, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT,van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. Phenotypic spectrum ofthe SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.
13. Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update forthe clinician. Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi:10.1097/HCO.0b013e32833f0220. Review.
14. Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG,Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ,Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Expert consensus recommendations on the cardiogeneticcare for patients with thoracic aortic disease and their first-degree relatives. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145.