Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

Heart

Volumn 97, Issue 4, 2011, Pages 321-326

  Disabella, Eliana ^a   Grasso, Maurizia ^a   Gambarin, Fabiana Isabella ^a   Narula, Nupoor ^a   Dore, Roberto ^a   Favalli, Valentina ^a   Serio, Alessandra ^a   Antoniazzi, Elena ^a   Mosconi, Mario ^a   Pasotti, Michele ^a   Odero, Attilio ^a   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN;

AORTA ANEURYSM; AORTA DISSECTION; AORTA WALL; ARTICLE; ATHEROSCLEROSIS; CIGARETTE SMOKING; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; HYPERTENSION; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; OBSERVATIONAL STUDY; PEDIGREE ANALYSIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RISK; RISK FACTOR; SCREENING; THORACIC AORTA ANEURYSM; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

ACTINS; ADOLESCENT; ADULT; AGED; ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; AORTIC VALVE; CHILD; FEMALE; GENETIC MARKERS; HUMANS; LOEYS-DIETZ SYNDROME; MALE; MARFAN SYNDROME; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RISK FACTORS;

EID: 79551484687     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2010.204388     Document Type: Article

References (19)

1. Ammash NM, Sundt TM, Connolly HM. Marfan syndrome - diagnosis and management. Curr Probl Cardiol 2008;33:7-39.
2. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81. (Pubitemid 41716254)
3. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98. (Pubitemid 44285584)
4. Germain DP, Herrera-Guzman Y. Vascular Ehlers-Danlos syndrome. Ann Genet 2004;47:1-9.
5. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-60. (Pubitemid 39014103)
6. Pannu H, Fadulu V, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005;112:513-20.
7. Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Gen 2007;39:1488-93.
8. Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 2009;84:617-27.
9. 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;38:343-9.
10. Morisaki H, Akutsu K, Ogino H, et al. Mutation of ACTA2 gene as an important cause of familial and non familial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Hum Mutat 2009;30:1406-11.
11. Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic bases of thoracic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet 2008;9:283-302.
12. Roman MJ, Devereux RB, Kramer-Fox R, et al. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-12. (Pubitemid 19214582)
13. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
14. Mathe E, Olivier M, Kato S, et al. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 2006;34:1317-25.
15. Holmes KC, Angert I, Kull FJ, et al. Electron cryo-microscopy shows how strong binding of myosin to actin releases nucleotide. Nature 2003;425:423-7.
16. Otterbein LR, Graceffa P, Domininguez R. The crystal structure of uncomplexed actin in the ADP state. Science 2001;293:708-11.
17. Vorobiev S, Strokopytov B, Drubin DG, et al. The structure of nonvertebrate actin: Implications for the ATP hydrolytic mechanism. Proc Natl Acad Sci U S A 2003;100:5760-5.
18. Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res 2000;28:4364-75.
19. Elefteriades JA, Farkas EA. Thoracic aortic aneurysm: clinically pertinent controversies and uncertainties. J Am Coll Cardiol 2010;55:841-57.