Síndrome de Marfan

Investigações

No momento, 51 genes são aceitos como causadores de aneurisma aórtico torácico e dissecção (AATD), e novos gentes são descobertos a cada ano.[25]Renard M, Francis C, Ghosh R, et al. Clinical validity of genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-15. https://www.doi.org/10.1016/j.jacc.2018.04.089 http://www.ncbi.nlm.nih.gov/pubmed/30071989?tool=bestpractice.com

O rastreamento de mutações nos genes de aneurisma aórtico torácico e dissecção (AATD) inclui TGFBR1/TGFBR2, ACTA2, MYH11, SMAD3 e TGFB2.[25]Renard M, Francis C, Ghosh R, et al. Clinical validity of genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-15. https://www.doi.org/10.1016/j.jacc.2018.04.089 http://www.ncbi.nlm.nih.gov/pubmed/30071989?tool=bestpractice.com [26]Tran-Fadulu V, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009 Sep;46(9):607-13. http://www.ncbi.nlm.nih.gov/pubmed/19542084?tool=bestpractice.com [27]Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010 Oct;152A(10):2437-43. http://www.ncbi.nlm.nih.gov/pubmed/20734336?tool=bestpractice.com [28]Zhu L, Vranckx R, Khau Van Kien P, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Mar;38(3):343-9. http://www.ncbi.nlm.nih.gov/pubmed/16444274?tool=bestpractice.com [29]van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011 Feb;43(2):121-6. http://www.ncbi.nlm.nih.gov/pubmed/21217753?tool=bestpractice.com [30]Boileau C, Guo DC, Hanna N, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012 Jul 8;44(8):916-21. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033668 http://www.ncbi.nlm.nih.gov/pubmed/22772371?tool=bestpractice.com [31]Milewicz DM, Regalado E. Thoracic aortic aneurysms and aortic dissections. January 2012 [internet publication]. http://www.ncbi.nlm.nih.gov/books/NBK1120

Investigações

Ecocardiografia, tomografia computadorizada (TC) do tórax ou ressonância nuclear magnética (RNM) do tórax mostrarão valva aórtica bicúspide anormal.

Investigações

Biópsia de pele para colágeno anormal e teste de ácido desoxirribonucleico (DNA) para mutação genética.[32]Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. https://www.doi.org/10.1002/ajmg.c.31552 http://www.ncbi.nlm.nih.gov/pubmed/28306229?tool=bestpractice.com

Investigações

Não há exames de diferenciação.

Investigações

Os níveis de homocisteína plasmática são elevados.

Investigações

Rastreamento de mutação nos genes TGFBR1, TGFBR2, SMAD3, TGFB2 e TGFB3.[3]Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. http://www.ncbi.nlm.nih.gov/pubmed/36938616?tool=bestpractice.com [34]The Marfan Foundation. Loeys-Dietz Syndrome: causes. [internet publication]. https://marfan.org/conditions/loeys-dietz/#causes ​​

Investigações

Cariótipo revela cromossomo X extra.

Investigações

Nenhum gene identificado.