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Volumn 4, Issue 4, 2011, Pages 367-374

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype

Author keywords

Cardiomyopathy; Genetics; Myocardium; Noncompaction; Sarcomere

Indexed keywords

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

EID: 80052752591     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.959270     Document Type: Article
Times cited : (160)

References (39)
  • 1
    • 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
    • DOI 10.1161/CIRCULATIONAHA.106.174287, PII 0000301720060411000015
    • Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB. 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; 113:1807-1816. (Pubitemid 43958474)
    • (2006) Circulation , vol.113 , Issue.14 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3    Antzelevitch, C.4    Corrado, D.5    Arnett, D.6    Moss, A.J.7    Seidman, C.E.8    Young, J.B.9
  • 3
    • 0035185141 scopus 로고    scopus 로고
    • Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy
    • Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufman PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666-671. (Pubitemid 33086886)
    • (2001) Heart , vol.86 , Issue.6 , pp. 666-671
    • Jenni, R.1    Oechslin, E.2    Schneider, J.3    Attenhofer Jost, C.4    Kaufmann, P.A.5
  • 5
    • 0025106446 scopus 로고
    • Isolated noncompaction of left ventricular myocardium. A study of eight cases
    • Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation. 1990;82:507-513. (Pubitemid 20257829)
    • (1990) Circulation , vol.82 , Issue.2 , pp. 507-513
    • Chin, T.K.1    Perloff, J.K.2    Williams, R.G.3    Jue, K.4    Mohrmann, R.5
  • 7
    • 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 C, Rojas JR, Kaufmann PA, Jenni R. 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.2    Rojas, J.R.3    Kaufmann, P.A.4    Jenni, R.5
  • 8
    • 0041821469 scopus 로고    scopus 로고
    • Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients
    • Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am J Med Genet A. 2003;119:162-167. (Pubitemid 37063886)
    • (2003) American Journal of Medical Genetics , vol.119 A , Issue.2 , pp. 162-167
    • Sasse-Klaassen, S.1    Gerull, B.2    Oechslin, E.3    Jenni, R.4    Thierfelder, L.5
  • 11
    • 33748043953 scopus 로고    scopus 로고
    • Complications of non-compaction of the left ventricular myocardium in a paediatric population: A prospective study
    • DOI 10.1093/eurheartj/ehl112
    • Lilje C, Razek V, Joyce JJ, Rau T, Finckh BF, Weiss F, Habermann CR, Rice JC, Weil J. Complications of non-compaction of the left ventricular myocardium in a paediatric population: a prospective study. Eur Heart J. 2006;27:1855-1860. (Pubitemid 44297393)
    • (2006) European Heart Journal , vol.27 , Issue.15 , pp. 1855-1860
    • Lilje, C.1    Razek, V.2    Joyce, J.J.3    Rau, T.4    Finckh, B.F.5    Weiss, F.6    Habermann, C.R.7    Rice, J.C.8    Weil, J.9
  • 12
    • 79952777650 scopus 로고    scopus 로고
    • Focused review: Ventricular noncompaction: An update
    • Libby P Bonow RO Mann DL Zipes DP eds. 8th edition (electronic). Philadelphia PA: Saunders Elsevier; chap 65
    • Klaassen S. Focused review: ventricular noncompaction: An update. In: Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th edition (electronic). Philadelphia, PA: Saunders Elsevier; 2008:pt VIII, chap 65, p 1763.
    • (2008) Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine , Issue.PART VIII , pp. 1763
    • Klaassen, S.1
  • 16
    • 36248976450 scopus 로고    scopus 로고
    • Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: Linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies
    • DOI 10.1093/eurheartj/ehm429
    • Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, Witsenburg M, ten Cate FJ, Simoons ML, Dooijes D. Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking noncompaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J. 2007;28:2732-2737. (Pubitemid 350135535)
    • (2007) European Heart Journal , vol.28 , Issue.22 , pp. 2732-2737
    • Hoedemaekers, Y.M.1    Caliskan, K.2    Majoor-Krakauer, D.3    Van De Laar, I.4    Michels, M.5    Witsenburg, M.6    Ten Cate, F.J.7    Simoons, M.L.8    Dooijes, D.9
  • 22
    • 0041923834 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy
    • DOI 10.1016/j.bbrc.2003.08.014
    • Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G. Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy. Biochem Biophys Res Commun. 2003;309:391-398. (Pubitemid 37025903)
    • (2003) Biochemical and Biophysical Research Communications , vol.309 , Issue.2 , pp. 391-398
    • Nanni, L.1    Pieroni, M.2    Chimenti, C.3    Simionati, B.4    Zimbello, R.5    Maseri, A.6    Frustaci, A.7    Lanfranchi, G.8
  • 23
    • 33646757738 scopus 로고    scopus 로고
    • Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
    • Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42:e59.
    • (2005) J Med Genet , vol.42
    • Ingles, J.1    Doolan, A.2    Chiu, C.3    Seidman, J.4    Seidman, C.5    Semsarian, C.6
  • 32
    • 41749105731 scopus 로고    scopus 로고
    • Left ventricular noncompaction and cardiomyopathy: Cause, contributor, or epiphenomenon?
    • DOI 10.1097/HCO.0b013e3282fdc939, PII 0000157320080500000002
    • Sen-Chowdry S, McKenna WJ. Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon? Curr Opin Cardiol. 2008;23:171-175. (Pubitemid 351489318)
    • (2008) Current Opinion in Cardiology , vol.23 , Issue.3 , pp. 171-175
    • Sen-Chowdhry, S.1    McKenna, W.J.2
  • 33
    • 79959422575 scopus 로고    scopus 로고
    • Left ventricular non-compaction revisited: A distinct phenotype with genetic heterogeneity?
    • In press. doi: 10.1093/eurheartj/ehq508
    • Oechslin E, Jenni R. Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J. In press. doi: 10.1093/eurheartj/ehq508.
    • Eur Heart J.
    • Oechslin, E.1    Jenni, R.2
  • 37
    • 33947217824 scopus 로고    scopus 로고
    • Functional modulation of cardiac form through regionally confined cell shape changes
    • Auman HJ, Coleman H, Riley HE, Olale F, Tsai HJ, Yelon D. Functional modulation of cardiac form through regionally confined cell shape changes. PLoS Biol. 2007;5:e53.
    • (2007) PLoS Biol , vol.5
    • Auman, H.J.1    Coleman, H.2    Riley, H.E.3    Olale, F.4    Tsai, H.J.5    Yelon, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.