메뉴 건너뛰기




Volumn 128, Issue 14, 2013, Pages 1513-1521

Yield of molecular and clinical testing for arrhythmia syndromes: Report of 15 years' experience

Author keywords

arrhythmias; Cardiac; cardiomyopathies; death, sudden, cardiac; genetic counseling; predictive genetic testing

Indexed keywords

ADULT; ARTERIOSCLEROSIS; ARTICLE; AUTOPSY; BRUGADA SYNDROME; CARNEY COMPLEX; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART CONDUCTION; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE FIBRILLATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; PHENOTYPE; PRIORITY JOURNAL; SHORT QT SYNDROME; SUDDEN CARDIAC DEATH; VENTRICULAR NONCOMPACTION;

EID: 84885022072     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.112.000091     Document Type: Article
Times cited : (121)

References (44)
  • 1
    • 0242329842 scopus 로고    scopus 로고
    • Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
    • DOI 10.1016/S0140-6736(03)14692-2
    • Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, Davies MJ, McKenna W; Sudden Arrhythmic Death Syndrome Steering Group. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362:1457-1459. (Pubitemid 37352884)
    • (2003) Lancet , vol.362 , Issue.9394 , pp. 1457-1459
    • Behr, E.1    Wood, D.A.2    Wright, M.3    Syrris, P.4    Sheppard, M.N.5    Casey, A.6    Davies, M.J.7    McKenna, W.8
  • 2
    • 22144439771 scopus 로고    scopus 로고
    • Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives
    • DOI 10.1161/CIRCULATIONAHA.104.522581
    • Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112:207-213. (Pubitemid 40982303)
    • (2005) Circulation , vol.112 , Issue.2 , pp. 207-213
    • Tan, H.L.1    Hofman, N.2    Van Langen, I.M.3    Van Der Wal, A.C.4    Wilde, A.A.M.5
  • 3
    • 35148819135 scopus 로고    scopus 로고
    • Contribution of inherited heart disease to sudden cardiac death in childhood
    • DOI 10.1542/peds.2006-3751
    • Hofman N, Tan HL, Clur SA, Alders M, van Langen IM, Wilde AA. Contribution of inherited heart disease to sudden cardiac death in childhood. Pediatrics. 2007;120:e967-e973. (Pubitemid 47549542)
    • (2007) Pediatrics , vol.120 , Issue.4
    • Hofman, N.1    Tan, H.L.2    Clur, S.-A.3    Alders, M.4    Van Langen, I.M.5    Wilde, A.A.M.6
  • 5
    • 77957257904 scopus 로고    scopus 로고
    • Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in the Netherlands
    • van der Werf C, Hofman N, Tan HL, van Dessel PF, Alders M, van der Wal AC, van Langen IM, Wilde AA. Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands. Heart Rhythm. 2010;7: 1383-1389.
    • (2010) Heart Rhythm , vol.7 , pp. 1383-1389
    • Van Der Werf, C.1    Hofman, N.2    Tan, H.L.3    Van Dessel, P.F.4    Alders, M.5    Van Der Wal, A.C.6    Van Langen, I.M.7    Wilde, A.A.8
  • 6
    • 33748141992 scopus 로고    scopus 로고
    • The role of molecular autopsy in unexplained sudden cardiac death
    • DOI 10.1097/01.hco.0000221576.33501.83, PII 0000157320060500000004
    • Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol. 2006;21:166-172. (Pubitemid 44315078)
    • (2006) Current Opinion in Cardiology , vol.21 , Issue.3 , pp. 166-172
    • Tester, D.J.1    Ackerman, M.J.2
  • 7
    • 77952722441 scopus 로고    scopus 로고
    • Active cascade screening in primary inherited arrhythmia syndromes: Does it lead to prophylactic treatment
    • Hofman N, Tan HL, Alders M, van Langen IM, Wilde AA. Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment J Am Coll Cardiol. 2010;55:2570-2576.
    • (2010) J Am Coll Cardiol , vol.55 , pp. 2570-2576
    • Hofman, N.1    Tan, H.L.2    Alders, M.3    Van Langen, I.M.4    Wilde, A.A.5
  • 9
    • 70349338813 scopus 로고    scopus 로고
    • Yield of genetic screening in inherited cardiac channelopathies: How to prioritize access to genetic testing
    • Bai R, Napolitano C, Bloise R, Monteforte N, Priori SG. Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing. Circ Arrhythm Electrophysiol. 2009;2:6-15.
    • (2009) Circ Arrhythm Electrophysiol , vol.2 , pp. 6-15
    • Bai, R.1    Napolitano, C.2    Bloise, R.3    Monteforte, N.4    Priori, S.G.5
  • 14
    • 2442671474 scopus 로고    scopus 로고
    • Family and population strategies for screening and counselling of inherited cardiac arrhythmias
    • DOI 10.1080/17431380410032526
    • van Langen IM, Hofman N, Tan HL, Wilde AA. Family and population strategies for screening and counselling of inherited cardiac arrhythmias. Ann Med. 2004;36(suppl 1):116-124. (Pubitemid 38669933)
    • (2004) Annals of Medicine , vol.36 , Issue.SUPPL. 1 , pp. 116-124
    • Van Langen, I.M.1    Hofman, N.2    Tan, H.L.3    Wilde, A.A.M.4
  • 19
    • 78149361865 scopus 로고    scopus 로고
    • Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
    • Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2010;47:736-744.
    • (2010) J Med Genet , vol.47 , pp. 736-744
    • Christensen, A.H.1    Benn, M.2    Bundgaard, H.3    Tybjaerg-Hansen, A.4    Haunso, S.5    Svendsen, J.H.6
  • 20
    • 35548997132 scopus 로고    scopus 로고
    • Role of Genetic Analysis in the Management of Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
    • DOI 10.1016/j.jacc.2007.08.008, PII S0735109707026496
    • Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:1813-1821. (Pubitemid 350007965)
    • (2007) Journal of the American College of Cardiology , vol.50 , Issue.19 , pp. 1813-1821
    • Sen-Chowdhry, S.1    Syrris, P.2    McKenna, W.J.3
  • 30
    • 84879920244 scopus 로고    scopus 로고
    • Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
    • Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013;17:553-561.
    • (2013) Genet Test Mol Biomarkers , vol.17 , pp. 553-561
    • Lieve, K.V.1    Williams, L.2    Daly, A.3    Richard, G.4    Bale, S.5    MacAya, D.6    Chung, W.K.7
  • 31
    • 1442356568 scopus 로고    scopus 로고
    • Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease
    • Schulze-Bahr E, Eckardt L, Breithardt G, Seidl K, Wichter T, Wolpert C, Borggrefe M, Haverkamp W. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat. 2003;21:651-652.
    • (2003) Hum Mutat , vol.21 , pp. 651-652
    • Schulze-Bahr, E.1    Eckardt, L.2    Breithardt, G.3    Seidl, K.4    Wichter, T.5    Wolpert, C.6    Borggrefe, M.7    Haverkamp, W.8
  • 32
    • 71849090068 scopus 로고    scopus 로고
    • The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: A comprehensive open reading frame mutational analysis
    • Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009;54:2065-2074.
    • (2009) J Am Coll Cardiol , vol.54 , pp. 2065-2074
    • Medeiros-Domingo, A.1    Bhuiyan, Z.A.2    Tester, D.J.3    Hofman, N.4    Bikker, H.5    Van Tintelen, J.P.6    Mannens, M.M.7    Wilde, A.A.8    Ackerman, M.J.9
  • 39
    • 84863484022 scopus 로고    scopus 로고
    • Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
    • Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012;87:524-539.
    • (2012) Mayo Clin Proc , vol.87 , pp. 524-539
    • Tester, D.J.1    Medeiros-Domingo, A.2    Will, M.L.3    Haglund, C.M.4    Ackerman, M.J.5
  • 40
    • 53249093720 scopus 로고    scopus 로고
    • Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy
    • Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet. 2008;16:1201-1207.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1201-1207
    • Christiaans, I.1    Birnie, E.2    Bonsel, G.J.3    Wilde, A.A.4    Van Langen, I.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.