메뉴 건너뛰기




Volumn 21, Issue 3, 2013, Pages 113-117

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

(17)  van Engelen, K a,b   Postma, A V a   van de Meerakker, J B A a   Roos Hesselink, J W c   Helderman Van den Enden, A T J M d   Vliegen, H W e   Rahman, T f   Baars, M J H a   Sels, J W g   Bauer, U h   Pickardt, T h   Sperling, S R i   Moorman, A F M a   Keavney, B f   Goodship, J f   Klaassen, S j,k   Mulder, B J M a,b  


Author keywords

Cardiomyopathy; Ebstein anomaly; Genetics; Heart defects, Congenital; Isolated noncompaction of the ventricular myocardium

Indexed keywords

ALPHA ACTIN; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; TROPOMYOSIN; TROPONIN T;

EID: 84874705105     PISSN: 15685888     EISSN: 18766250     Source Type: Journal    
DOI: 10.1007/s12471-011-0141-1     Document Type: Review
Times cited : (27)

References (31)
  • 2
    • 3042799566 scopus 로고    scopus 로고
    • Noncompacted myocardium in Ebstein's anomaly: Initial description in three patients
    • Attenhofer Jost CH, Connolly HM, Warnes CA, et al. Noncompacted myocardium in Ebstein's anomaly: initial description in three patients. J Am Soc Echocardiogr. 2004;17:677-80.
    • (2004) J Am Soc Echocardiogr , vol.17 , pp. 677-680
    • Attenhofer Jost, C.H.1    Connolly, H.M.2    Warnes, C.A.3
  • 4
    • 20744452383 scopus 로고    scopus 로고
    • Familial biventricular myocardial noncompaction associated with Ebstein's malformation
    • Sinkovec M, Kozelj M, Podnar T. Familial biventricular myocardial noncompaction associated with Ebstein's malformation. Int J Cardiol. 2005;102:297-302.
    • (2005) Int J Cardiol , vol.102 , pp. 297-302
    • Sinkovec, M.1    Kozelj, M.2    Podnar, T.3
  • 5
    • 44449159866 scopus 로고    scopus 로고
    • Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene
    • Budde BS, Binner P, Waldmuller S, et al. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS One. 2007;2:e1362.
    • (2007) PLoS One , vol.2
    • Budde, B.S.1    Binner, P.2    Waldmuller, S.3
  • 6
    • 55949137762 scopus 로고    scopus 로고
    • Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction
    • Bagur RH, Lederlin M, Montaudon M, et al. Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction. Circulation. 2008;118:e662-4.
    • (2008) Circulation , vol.118
    • Bagur, R.H.1    Lederlin, M.2    Montaudon, M.3
  • 9
    • 0028131140 scopus 로고
    • Ebstein's malformation of the tricuspid valve: Genetic and environmental factors. The Baltimore-Washington Infant Study Group
    • Correa-Villasenor A, Ferencz C, Neill CA, et al. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology. 1994;50:137-47.
    • (1994) Teratology , vol.50 , pp. 137-147
    • Correa-Villasenor, A.1    Ferencz, C.2    Neill, C.A.3
  • 10
    • 84874746308 scopus 로고    scopus 로고
    • Congenital heart disease
    • In: Firth HV, Hurst JA, Hall JG, editors. Oxford desk reference clinical genetics. Oxford: Oxford University Press
    • Firth HV. Congenital heart disease. In: Firth HV, Hurst JA, Hall JG, editors. Oxford desk reference clinical genetics. Oxford: Oxford University Press; 2006. p. 84-7.
    • (2006) Oxford desk reference clinical genetics , pp. 84-87
    • Firth, H.V.1
  • 11
    • 0033430230 scopus 로고    scopus 로고
    • Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    • Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567-73.
    • (1999) J Clin Invest , vol.104 , pp. 1567-1573
    • Benson, D.W.1    Silberbach, G.M.2    Kavanaugh-McHugh, A.3
  • 12
    • 24044434922 scopus 로고    scopus 로고
    • A rare case of interstitial del(1) (p34.3p36.11) diagnosed prenatally
    • Yang H, Lee CL, Young DC, et al. A rare case of interstitial del(1) (p34.3p36.11) diagnosed prenatally. Fetal Pediatr Pathol. 2004;23:251-5.
    • (2004) Fetal Pediatr Pathol , vol.23 , pp. 251-255
    • Yang, H.1    Lee, C.L.2    Young, D.C.3
  • 13
    • 33645886074 scopus 로고    scopus 로고
    • Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients
    • Miller MS, Rao PN, Dudovitz RN, et al. Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. Am J Med Genet A. 2005;139A:141-5.
    • (2005) Am J Med Genet A , vol.139 A , pp. 141-145
    • Miller, M.S.1    Rao, P.N.2    Dudovitz, R.N.3
  • 15
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention
    • Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-16.
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 16
    • 0035185141 scopus 로고    scopus 로고
    • Echocardiographic and pathoanatomical characteristics of isolated left ventricular noncompaction: A step towards classification as a distinct cardiomyopathy
    • Jenni R, Oechslin E, Schneider J, et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular noncompaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666-71.
    • (2001) Heart , vol.86 , pp. 666-671
    • Jenni, R.1    Oechslin, E.2    Schneider, J.3
  • 17
    • 33845449002 scopus 로고    scopus 로고
    • Clinical features of isolated ventricular noncompaction in adults long-term clinical course, echocardiographic properties, and predictors of left ventricular failure
    • Aras D, Tufekcioglu O, Ergun K, et al. Clinical features of isolated ventricular noncompaction in adults long-term clinical course, echocardiographic properties, and predictors of left ventricular failure. J Card Fail. 2006;12:726-33.
    • (2006) J Card Fail , vol.12 , pp. 726-733
    • Aras, D.1    Tufekcioglu, O.2    Ergun, K.3
  • 18
    • 77955880540 scopus 로고    scopus 로고
    • The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
    • Hoedemaekers YM, Caliskan K, Michels M, et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet. 2010;3:232-9.
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 232-239
    • Hoedemaekers, Y.M.1    Caliskan, K.2    Michels, M.3
  • 19
    • 44649118695 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes in left ventricular noncompaction
    • Klaassen S, Probst S, Oechslin E, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008;117:2893-901.
    • (2008) Circulation , vol.117 , pp. 2893-2901
    • Klaassen, S.1    Probst, S.2    Oechslin, E.3
  • 20
    • 35348907453 scopus 로고    scopus 로고
    • Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects
    • Monserrat L, Hermida-Prieto M, Fernandez X, et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J. 2007;28:1953-61.
    • (2007) Eur Heart J , vol.28 , pp. 1953-1961
    • Monserrat, L.1    Hermida-Prieto, M.2    Fernandez, X.3
  • 21
    • 77949887523 scopus 로고    scopus 로고
    • Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation
    • Dellefave LM, Pytel P, Mewborn S, et al. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009;2:442-9.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 442-449
    • Dellefave, L.M.1    Pytel, P.2    Mewborn, S.3
  • 22
    • 67349188064 scopus 로고    scopus 로고
    • Analysis of ventricular hyper- trabeculation and noncompaction using genetically engineered mouse models
    • Chen H, Zhang W, Li D, et al. Analysis of ventricular hyper- trabeculation and noncompaction using genetically engineered mouse models. Pediatr Cardiol. 2009;30:626-34.
    • (2009) Pediatr Cardiol , vol.30 , pp. 626-634
    • Chen, H.1    Zhang, W.2    Li, D.3
  • 23
    • 4644317085 scopus 로고    scopus 로고
    • Lineage and morphogenetic analysis of the cardiac valves
    • de Lange FJ, Moorman AF, Anderson RH, et al. Lineage and morphogenetic analysis of the cardiac valves. Circ Res. 2004;95:645-54.
    • (2004) Circ Res , vol.95 , pp. 645-654
    • de Lange, F.J.1    Moorman, A.F.2    Anderson, R.H.3
  • 24
    • 0347753250 scopus 로고    scopus 로고
    • Oriented clonal cell growth in the developing mouse myocardium underlies cardiac morphogenesis
    • Meilhac SM, Esner M, Kerszberg M, et al. Oriented clonal cell growth in the developing mouse myocardium underlies cardiac morphogenesis. J Cell Biol. 2004;164:97-109.
    • (2004) J Cell Biol , vol.164 , pp. 97-109
    • Meilhac, S.M.1    Esner, M.2    Kerszberg, M.3
  • 25
    • 20144387341 scopus 로고    scopus 로고
    • Mutation in myosin heavy chain 6 causes atrial septal defect
    • Ching YH, Ghosh TK, Cross SJ, et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005;37:423-8.
    • (2005) Nat Genet , vol.37 , pp. 423-428
    • Ching, Y.H.1    Ghosh, T.K.2    Cross, S.J.3
  • 26
    • 33750475536 scopus 로고    scopus 로고
    • Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
    • Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, et al. Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet. 2006;43:829-32.
    • (2006) J Med Genet , vol.43 , pp. 829-832
    • Lekanne Deprez, R.H.1    Muurling-Vlietman, J.J.2    Hruda, J.3
  • 27
    • 37849048968 scopus 로고    scopus 로고
    • Alpha-cardiac actin mutations produce atrial septal defects
    • Matsson H, Eason J, Bookwalter CS, et al. Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet. 2008;17:256-65.
    • (2008) Hum Mol Genet , vol.17 , pp. 256-265
    • Matsson, H.1    Eason, J.2    Bookwalter, C.S.3
  • 28
    • 33644627494 scopus 로고    scopus 로고
    • Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
    • Zhu L, Vranckx R, Van Khau KP, 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.
    • (2006) Nat Genet , vol.38 , pp. 343-349
    • Zhu, L.1    Vranckx, R.2    Van Khau, K.P.3
  • 29
    • 36549071997 scopus 로고    scopus 로고
    • Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
    • Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39:1488-93.
    • (2007) Nat Genet , vol.39 , pp. 1488-1493
    • Guo, D.C.1    Pannu, H.2    Tran-Fadulu, V.3
  • 30
    • 0033853552 scopus 로고    scopus 로고
    • Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis
    • Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000;36:493-500.
    • (2000) J Am Coll Cardiol , vol.36 , pp. 493-500
    • Oechslin, E.N.1    Attenhofer Jost, C.H.2    Rojas, J.R.3
  • 31
    • 78649373427 scopus 로고    scopus 로고
    • Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
    • Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31:2715-26.
    • (2010) Eur Heart J , vol.31 , pp. 2715-2726
    • Charron, P.1    Arad, M.2    Arbustini, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.