메뉴 건너뛰기




Volumn 53, Issue 15, 2009, Pages 1289-1299

Morphologic Variants of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. A Genetics-Magnetic Resonance Imaging Correlation Study

Author keywords

arrhythmia; cardiomyopathy; diagnosis; genetics; magnetic resonance imaging

Indexed keywords

DNA;

EID: 63549109935     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2008.12.045     Document Type: Article
Times cited : (76)

References (40)
  • 1
    • 0020077022 scopus 로고
    • Right ventricular dysplasia: a report of 24 adult cases
    • Marcus F.I., Fontaine G.H., Guiraudon G., et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation 65 (1982) 384-398
    • (1982) Circulation , vol.65 , pp. 384-398
    • Marcus, F.I.1    Fontaine, G.H.2    Guiraudon, G.3
  • 2
    • 0029027716 scopus 로고
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review
    • Marcus F.I., and Fontaine G. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review. Pacing Clin Electrophysiol 18 (1995) 1298-1314
    • (1995) Pacing Clin Electrophysiol , vol.18 , pp. 1298-1314
    • Marcus, F.I.1    Fontaine, G.2
  • 3
    • 4944253790 scopus 로고    scopus 로고
    • Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Hulot J.S., Jouven X., Empana J.P., et al. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 110 (2004) 1879-1884
    • (2004) Circulation , vol.110 , pp. 1879-1884
    • Hulot, J.S.1    Jouven, X.2    Empana, J.P.3
  • 4
    • 33644878722 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia: a United States experience
    • Dalal D., Nasir K., Bomma C., et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 112 (2005) 3823-3832
    • (2005) Circulation , vol.112 , pp. 3823-3832
    • Dalal, D.1    Nasir, K.2    Bomma, C.3
  • 5
    • 0023848617 scopus 로고
    • Right ventricular cardiomyopathy and sudden death in young people
    • Thiene G., Nava A., Corrado D., et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318 (1988) 129-133
    • (1988) N Engl J Med , vol.318 , pp. 129-133
    • Thiene, G.1    Nava, A.2    Corrado, D.3
  • 6
    • 0037811950 scopus 로고    scopus 로고
    • A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
    • Alcalai R., Metzger S., Rosenheck S., et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 42 (2003) 319-327
    • (2003) J Am Coll Cardiol , vol.42 , pp. 319-327
    • Alcalai, R.1    Metzger, S.2    Rosenheck, S.3
  • 7
    • 18644363134 scopus 로고    scopus 로고
    • Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
    • Rampazzo A., Nava A., Malacrida S., et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71 (2002) 1200-1206
    • (2002) Am J Hum Genet , vol.71 , pp. 1200-1206
    • Rampazzo, A.1    Nava, A.2    Malacrida, S.3
  • 8
    • 25844452812 scopus 로고    scopus 로고
    • Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations
    • Bauce B., Basso C., Rampazzo A., et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 26 (2005) 1666-1675
    • (2005) Eur Heart J , vol.26 , pp. 1666-1675
    • Bauce, B.1    Basso, C.2    Rampazzo, A.3
  • 9
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G., Protonotarios N., Crosby A., et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355 (2000) 2119-2124
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3
  • 10
    • 0035499026 scopus 로고    scopus 로고
    • Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin
    • Protonotarios N., Tsatsopoulou A., Anastasakis A., et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 38 (2001) 1477-1484
    • (2001) J Am Coll Cardiol , vol.38 , pp. 1477-1484
    • Protonotarios, N.1    Tsatsopoulou, A.2    Anastasakis, A.3
  • 11
    • 11444264507 scopus 로고    scopus 로고
    • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    • Gerull B., Heuser A., Wichter T., et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36 (2004) 1162-1164
    • (2004) Nat Genet , vol.36 , pp. 1162-1164
    • Gerull, B.1    Heuser, A.2    Wichter, T.3
  • 12
    • 33645787474 scopus 로고    scopus 로고
    • Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
    • Dalal D., Molin L.H., Piccini J., et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 113 (2006) 1641-1649
    • (2006) Circulation , vol.113 , pp. 1641-1649
    • Dalal, D.1    Molin, L.H.2    Piccini, J.3
  • 13
    • 33745231792 scopus 로고    scopus 로고
    • DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Awad M.M., Dalal D., Cho E., et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 79 (2006) 136-142
    • (2006) Am J Hum Genet , vol.79 , pp. 136-142
    • Awad, M.M.1    Dalal, D.2    Cho, E.3
  • 14
    • 33748934196 scopus 로고    scopus 로고
    • Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Dalal D., James C., Devanagondi R., et al. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 48 (2006) 1416-1424
    • (2006) J Am Coll Cardiol , vol.48 , pp. 1416-1424
    • Dalal, D.1    James, C.2    Devanagondi, R.3
  • 15
    • 33751073197 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
    • Syrris P., Ward D., Evans A., et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 79 (2006) 978-984
    • (2006) Am J Hum Genet , vol.79 , pp. 978-984
    • Syrris, P.1    Ward, D.2    Evans, A.3
  • 16
    • 33645772930 scopus 로고    scopus 로고
    • Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • van Tintelen J.P., Entius M.M., Bhuiyan Z.A., et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 113 (2006) 1650-1658
    • (2006) Circulation , vol.113 , pp. 1650-1658
    • van Tintelen, J.P.1    Entius, M.M.2    Bhuiyan, Z.A.3
  • 17
    • 33645527574 scopus 로고    scopus 로고
    • Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
    • Pilichou K., Nava A., Basso C., et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 113 (2006) 1171-1179
    • (2006) Circulation , vol.113 , pp. 1171-1179
    • Pilichou, K.1    Nava, A.2    Basso, C.3
  • 18
    • 34247280500 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression
    • Sen-Chowdhry S., Syrris P., Ward D., et al. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 115 (2007) 1710-1720
    • (2007) Circulation , vol.115 , pp. 1710-1720
    • Sen-Chowdhry, S.1    Syrris, P.2    Ward, D.3
  • 19
    • 0028347223 scopus 로고
    • Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology
    • McKenna W.J., Thiene G., Nava A., et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 71 (1994) 215-218
    • (1994) Br Heart J , vol.71 , pp. 215-218
    • McKenna, W.J.1    Thiene, G.2    Nava, A.3
  • 20
    • 0037648551 scopus 로고    scopus 로고
    • Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia
    • Tandri H., Calkins H., Nasir K., et al. Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol 14 (2003) 476-482
    • (2003) J Cardiovasc Electrophysiol , vol.14 , pp. 476-482
    • Tandri, H.1    Calkins, H.2    Nasir, K.3
  • 21
    • 0036851391 scopus 로고    scopus 로고
    • Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia
    • Tandri H., Rutberg J., Bluemke D.A., et al. Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol 13 (2002) 1180
    • (2002) J Cardiovasc Electrophysiol , vol.13 , pp. 1180
    • Tandri, H.1    Rutberg, J.2    Bluemke, D.A.3
  • 22
    • 0037631917 scopus 로고    scopus 로고
    • MR imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability
    • Bluemke D.A., Krupinski E.A., Ovitt T., et al. MR imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability. Cardiology 99 (2003) 153-162
    • (2003) Cardiology , vol.99 , pp. 153-162
    • Bluemke, D.A.1    Krupinski, E.A.2    Ovitt, T.3
  • 23
    • 1842427366 scopus 로고    scopus 로고
    • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a single gold standard test?
    • Corrado D., and Thiene G. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a single gold standard test?. J Cardiovasc Electrophysiol 15 (2004) 307-309
    • (2004) J Cardiovasc Electrophysiol , vol.15 , pp. 307-309
    • Corrado, D.1    Thiene, G.2
  • 24
    • 0037192118 scopus 로고    scopus 로고
    • Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association
    • Cerqueira M.D., Weissman N.J., Dilsizian V., et al. Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the Cardiac Imaging Committee of the Council on Clinical Cardiology of the American Heart Association. Circulation 105 (2002) 539-542
    • (2002) Circulation , vol.105 , pp. 539-542
    • Cerqueira, M.D.1    Weissman, N.J.2    Dilsizian, V.3
  • 25
    • 33644851952 scopus 로고    scopus 로고
    • Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy
    • Syrris P., Ward D., Asimaki A., et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 113 (2006) 356-364
    • (2006) Circulation , vol.113 , pp. 356-364
    • Syrris, P.1    Ward, D.2    Asimaki, A.3
  • 26
    • 0023710206 scopus 로고
    • Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach
    • DeLong E.R., DeLong D.M., and Clarke-Pearson D.L. Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach. Biometrics 44 (1988) 837-845
    • (1988) Biometrics , vol.44 , pp. 837-845
    • DeLong, E.R.1    DeLong, D.M.2    Clarke-Pearson, D.L.3
  • 27
    • 34147208940 scopus 로고    scopus 로고
    • Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
    • Awad M.M., Dalal D., Tichnell C., et al. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat 27 (2006) 1157
    • (2006) Hum Mutat , vol.27 , pp. 1157
    • Awad, M.M.1    Dalal, D.2    Tichnell, C.3
  • 28
    • 33845233689 scopus 로고    scopus 로고
    • Normal reference values for the adult right ventricle by magnetic resonance imaging
    • Tandri H., Daya S.K., Nasir K., et al. Normal reference values for the adult right ventricle by magnetic resonance imaging. Am J Cardiol 98 (2006) 1660-1664
    • (2006) Am J Cardiol , vol.98 , pp. 1660-1664
    • Tandri, H.1    Daya, S.K.2    Nasir, K.3
  • 29
    • 0036851391 scopus 로고    scopus 로고
    • Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia
    • Tandri H., Rutberg J., Bluemke D.A., et al. Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol 13 (2002) 1180
    • (2002) J Cardiovasc Electrophysiol , vol.13 , pp. 1180
    • Tandri, H.1    Rutberg, J.2    Bluemke, D.A.3
  • 30
    • 0002138368 scopus 로고
    • Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanism and selection for surgery
    • Kulbertus H.E. (Ed), MTP Publishing, Lancaster, PA
    • Fontaine G., Guiraudon G., Frank R., et al. Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanism and selection for surgery. In: Kulbertus H.E. (Ed). Reentrant Arrhythmias (1977), MTP Publishing, Lancaster, PA 334-350
    • (1977) Reentrant Arrhythmias , pp. 334-350
    • Fontaine, G.1    Guiraudon, G.2    Frank, R.3
  • 31
    • 0033662201 scopus 로고    scopus 로고
    • Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy
    • Nava A., Bauce B., Basso C., et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 36 (2000) 2226-2233
    • (2000) J Am Coll Cardiol , vol.36 , pp. 2226-2233
    • Nava, A.1    Bauce, B.2    Basso, C.3
  • 32
    • 0037120964 scopus 로고    scopus 로고
    • Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria
    • Hamid M.S., Norman M., Quraishi A., et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 40 (2002) 1445-1450
    • (2002) J Am Coll Cardiol , vol.40 , pp. 1445-1450
    • Hamid, M.S.1    Norman, M.2    Quraishi, A.3
  • 33
    • 0030712343 scopus 로고    scopus 로고
    • Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study
    • Corrado D., Basso C., Thiene G., et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 30 (1997) 1512-1520
    • (1997) J Am Coll Cardiol , vol.30 , pp. 1512-1520
    • Corrado, D.1    Basso, C.2    Thiene, G.3
  • 34
    • 0027548587 scopus 로고
    • Desmosomes and hemidesmosomes
    • Garrod D.R. Desmosomes and hemidesmosomes. Curr Opin Cell Biol 5 (1993) 30-40
    • (1993) Curr Opin Cell Biol , vol.5 , pp. 30-40
    • Garrod, D.R.1
  • 35
    • 33750945619 scopus 로고    scopus 로고
    • Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype
    • Sen-Chowdhry S., Prasad S.K., Syrris P., et al. Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol 48 (2006) 2132-2140
    • (2006) J Am Coll Cardiol , vol.48 , pp. 2132-2140
    • Sen-Chowdhry, S.1    Prasad, S.K.2    Syrris, P.3
  • 36
    • 1542619239 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: a new animal model of human disease
    • Basso C., Fox P.R., Meurs K.M., et al. Arrhythmogenic right ventricular cardiomyopathy causing sudden cardiac death in boxer dogs: a new animal model of human disease. Circulation 109 (2004) 1180-1185
    • (2004) Circulation , vol.109 , pp. 1180-1185
    • Basso, C.1    Fox, P.R.2    Meurs, K.M.3
  • 37
    • 34548253988 scopus 로고    scopus 로고
    • Molecular composition of the intercalated disc in a spontaneous canine animal model of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Oxford E.M., Everitt M., Coombs W., et al. Molecular composition of the intercalated disc in a spontaneous canine animal model of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm 4 (2007) 1196-1205
    • (2007) Heart Rhythm , vol.4 , pp. 1196-1205
    • Oxford, E.M.1    Everitt, M.2    Coombs, W.3
  • 38
    • 2442509624 scopus 로고    scopus 로고
    • Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)
    • Kaplan S.R., Gard J.J., Protonotarios N., et al. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 1 (2004) 3-11
    • (2004) Heart Rhythm , vol.1 , pp. 3-11
    • Kaplan, S.R.1    Gard, J.J.2    Protonotarios, N.3
  • 39
    • 0842283305 scopus 로고    scopus 로고
    • Structural and molecular pathology of the heart in Carvajal syndrome
    • Kaplan S.R., Gard J.J., Carvajal-Huerta L., et al. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 13 (2004) 26-32
    • (2004) Cardiovasc Pathol , vol.13 , pp. 26-32
    • Kaplan, S.R.1    Gard, J.J.2    Carvajal-Huerta, L.3
  • 40
    • 33750539318 scopus 로고    scopus 로고
    • Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice
    • Kirchhof P., Fabritz L., Zwiener M., et al. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 114 (2006) 1799-1806
    • (2006) Circulation , vol.114 , pp. 1799-1806
    • Kirchhof, P.1    Fabritz, L.2    Zwiener, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.