-
1
-
-
52449090787
-
Regional variation in out-of-hospital cardiac arrest incidence and outcome
-
1 Nichol, G., Thomas, E., Callaway, C.W., et al. Regional variation in out-of-hospital cardiac arrest incidence and outcome. JAMA 300 (2008), 1423–1431.
-
(2008)
JAMA
, vol.300
, pp. 1423-1431
-
-
Nichol, G.1
Thomas, E.2
Callaway, C.W.3
-
2
-
-
4444257415
-
Current burden of sudden cardiac death: multiple source surveillance versus retrospective death certificate-based review in a large U.S. Community
-
2 Chugh, S.S., Jui, J., Gunson, K., et al. Current burden of sudden cardiac death: multiple source surveillance versus retrospective death certificate-based review in a large U.S. Community. J Am Coll Cardiol 44 (2004), 1268–1275.
-
(2004)
J Am Coll Cardiol
, vol.44
, pp. 1268-1275
-
-
Chugh, S.S.1
Jui, J.2
Gunson, K.3
-
3
-
-
44949112264
-
Multiple source surveillance incidence and aetiology of out-of-hospital sudden cardiac death in a rural population in the west of Ireland
-
3 Byrne, R., Constant, O., Smyth, Y., et al. Multiple source surveillance incidence and aetiology of out-of-hospital sudden cardiac death in a rural population in the west of Ireland. Eur Heart J 29 (2008), 1418–1423.
-
(2008)
Eur Heart J
, vol.29
, pp. 1418-1423
-
-
Byrne, R.1
Constant, O.2
Smyth, Y.3
-
4
-
-
0001255979
-
Sudden cardiac death
-
R.W. Alexander R.C. Schlant V. Fuster McGraw-Hill New York, NY
-
4 Engelstein, E.D., Zipes, D.P., Sudden cardiac death. Alexander, R.W., Schlant, R.C., Fuster, V., (eds.) The heart, arteries and veins, 1998, McGraw-Hill, New York, NY, 1081–1112.
-
(1998)
The heart, arteries and veins
, pp. 1081-1112
-
-
Engelstein, E.D.1
Zipes, D.P.2
-
5
-
-
65249164840
-
Cardiac arrest and sudden cardiac death’ in heart disease: a textbook of cardiovascular medicine
-
7th ed WB Saunders Philadelphia
-
5 Myerburg, R.J., Cardiac arrest and sudden cardiac death’ in heart disease: a textbook of cardiovascular medicine. 7th ed, 2005, WB Saunders, Philadelphia.
-
(2005)
-
-
Myerburg, R.J.1
-
6
-
-
84978609846
-
-
NICE Technology Appraisal—implantable cardioverter defibrillators and cardiac resynchronisation therapy for arrhythmias and heart failure. 2014. Available at: Accessed September
-
6 NICE Technology Appraisal—implantable cardioverter defibrillators and cardiac resynchronisation therapy for arrhythmias and heart failure. 2014. Available at: http://www.nice.org.uk/guidance/ta314/chapter/2-clinical-need-and-practice. Accessed September 2014.
-
(2014)
-
-
-
7
-
-
84873131960
-
Sudden cardiac death in young Danes
-
7 Winkel, B.G., Sudden cardiac death in young Danes. Dan Med J, 59, 2012, B4403.
-
(2012)
Dan Med J
, vol.59
, pp. B4403
-
-
Winkel, B.G.1
-
8
-
-
10044237875
-
Sudden death in young adults: a 25-year review of autopsies in military recruits
-
8 Eckart, R.E., Scoville, S.L., Campbell, C.L., et al. Sudden death in young adults: a 25-year review of autopsies in military recruits. Ann Intern Med 141 (2004), 829–834.
-
(2004)
Ann Intern Med
, vol.141
, pp. 829-834
-
-
Eckart, R.E.1
Scoville, S.L.2
Campbell, C.L.3
-
9
-
-
30344476135
-
Sudden death in the young
-
9 Puranik, R., Chow, C.K., Duflou, J.A., Kilborn, M.J., McGuire, M.A., Sudden death in the young. Heart Rhythm 2 (2005), 1277–1282.
-
(2005)
Heart Rhythm
, vol.2
, pp. 1277-1282
-
-
Puranik, R.1
Chow, C.K.2
Duflou, J.A.3
Kilborn, M.J.4
McGuire, M.A.5
-
10
-
-
84900395460
-
Burden of sudden cardiac death in persons aged 1 to 49 years: nationwide study in Denmark
-
10 Risgaard, B., Winkel, B.G., Jabbari, R., et al. Burden of sudden cardiac death in persons aged 1 to 49 years: nationwide study in Denmark. Circ Arrhythm Electrophysiol 7 (2014), 205–211.
-
(2014)
Circ Arrhythm Electrophysiol
, vol.7
, pp. 205-211
-
-
Risgaard, B.1
Winkel, B.G.2
Jabbari, R.3
-
11
-
-
0035028796
-
Sudden cardiac death in young people with apparently normal heart
-
11 Corrado, D., Basso, C., Thiene, G., Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 50 (2001), 399–408.
-
(2001)
Cardiovasc Res
, vol.50
, pp. 399-408
-
-
Corrado, D.1
Basso, C.2
Thiene, G.3
-
12
-
-
17444438135
-
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation
-
12 Corrado, D., Fontaine, G., Marcus, F.I., et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation 101 (2000), E101–E106.
-
(2000)
Circulation
, vol.101
, pp. E101-E106
-
-
Corrado, D.1
Fontaine, G.2
Marcus, F.I.3
-
13
-
-
62649113485
-
Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006
-
13 Maron, B.J., Doerer, J.J., Haas, T.S., Tierney, D.M., Mueller, F.O., Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 119 (2009), 1085–1092.
-
(2009)
Circulation
, vol.119
, pp. 1085-1092
-
-
Maron, B.J.1
Doerer, J.J.2
Haas, T.S.3
Tierney, D.M.4
Mueller, F.O.5
-
14
-
-
70349501483
-
The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales
-
14 Papadakis, M., Sharma, S., Cox, C., Sheppard, M.N., Panoulas, V.F., Behr, E.R., The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales. Europace 11 (2009), 1353–1358.
-
(2009)
Europace
, vol.11
, pp. 1353-1358
-
-
Papadakis, M.1
Sharma, S.2
Cox, C.3
Sheppard, M.N.4
Panoulas, V.F.5
Behr, E.R.6
-
15
-
-
80053469438
-
Unexplained drownings and the cardiac channelopathies: a molecular autopsy series
-
15 Tester, D.J., Medeiros-Domingo, A., Will, M.L., Ackerman, M.J., Unexplained drownings and the cardiac channelopathies: a molecular autopsy series. Mayo Clin Proc 86 (2011), 941–947.
-
(2011)
Mayo Clin Proc
, vol.86
, pp. 941-947
-
-
Tester, D.J.1
Medeiros-Domingo, A.2
Will, M.L.3
Ackerman, M.J.4
-
16
-
-
84871628870
-
Unexplained sudden death, focussing on genetics and family phenotyping
-
16 Raji, H., Behr, E.R., Unexplained sudden death, focussing on genetics and family phenotyping. Curr Opin Cardiol 28 (2013), 19–25.
-
(2013)
Curr Opin Cardiol
, vol.28
, pp. 19-25
-
-
Raji, H.1
Behr, E.R.2
-
17
-
-
84888591759
-
Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome
-
17 Sandorfi, G., Clemens, B., Csanadi, Z., Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome. Mayo Clin Proc 88 (2013), 1167–1173.
-
(2013)
Mayo Clin Proc
, vol.88
, pp. 1167-1173
-
-
Sandorfi, G.1
Clemens, B.2
Csanadi, Z.3
-
18
-
-
84889856570
-
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013
-
18 Priori, S.G., Wilde, A.A., Horie, M., et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm 10 (2013), 1932–1963.
-
(2013)
Heart Rhythm
, vol.10
, pp. 1932-1963
-
-
Priori, S.G.1
Wilde, A.A.2
Horie, M.3
-
19
-
-
84884472746
-
Sudden cardiac death with autopsy findings of uncertain significance
-
19 Papadakis, M., Hariharan, R., Behr, E.R., et al. Sudden cardiac death with autopsy findings of uncertain significance. Circ Arrhythm Electrophysiol 6 (2013), 588–596.
-
(2013)
Circ Arrhythm Electrophysiol
, vol.6
, pp. 588-596
-
-
Papadakis, M.1
Hariharan, R.2
Behr, E.R.3
-
20
-
-
84901819098
-
The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths
-
20 de Noronha, S.V., Behr, E.R., Papadakis, M., et al. The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths. Europace 16 (2014), 899–907.
-
(2014)
Europace
, vol.16
, pp. 899-907
-
-
de Noronha, S.V.1
Behr, E.R.2
Papadakis, M.3
-
21
-
-
84978617327
-
-
Trans-Tasman Response Against Sudden Death in the Young (TRAGADY). Post-mortem in sudden unexpected death in the young: guidelines on autopsy practice. 2008. Available at: Accessed June 5
-
21 Trans-Tasman Response Against Sudden Death in the Young (TRAGADY). Post-mortem in sudden unexpected death in the young: guidelines on autopsy practice. 2008. Available at: https://www.cidg.org/webcontent/LinkClick.aspx?fileticket=DO9YIQWqegI%3D&tabid=161. Accessed June 5, 2015.
-
(2015)
-
-
-
22
-
-
84978609887
-
-
Office of the Chief Coroner for Ontario. Guidelines for the investigation of sudden cardiac death. Memo #08–01. Available at: Accessed June 5
-
22 Office of the Chief Coroner for Ontario. Guidelines for the investigation of sudden cardiac death. Memo #08–01. Available at: http://nsgc.org/d/do/978. Accessed June 5, 2015.
-
(2015)
-
-
-
23
-
-
84978619668
-
-
Sudden Death in the Young Case Registry. University of Michigan. National Heart, Lung, and Blood Institute (NHLBI), the National Institute of Neurological Disorders and Stroke (NINDS), and the Centers for Disease Control and Prevention (CDC). Available at: Accessed June 5
-
23 Sudden Death in the Young Case Registry. University of Michigan. National Heart, Lung, and Blood Institute (NHLBI), the National Institute of Neurological Disorders and Stroke (NINDS), and the Centers for Disease Control and Prevention (CDC). Available at: http://www.nhlbi.nih.gov/news/spotlight/fact-sheet/frequently-asked-questions-about-sudden-death-young-case-registry. Accessed June 5, 2015.
-
(2015)
-
-
-
24
-
-
84978622321
-
Chapter 8. Arrhythmias and sudden cardiac death
-
Department of Health London
-
24 Coronary Heart Disease National Service Framework. Chapter 8. Arrhythmias and sudden cardiac death. 2005, Department of Health, London.
-
(2005)
-
-
-
25
-
-
84884591407
-
Genetic testing for inherited cardiac disease
-
25 Wilde, A.A., Behr, E.R., Genetic testing for inherited cardiac disease. Nat Rev Cardiol 10 (2013), 571–583.
-
(2013)
Nat Rev Cardiol
, vol.10
, pp. 571-583
-
-
Wilde, A.A.1
Behr, E.R.2
-
26
-
-
80052989000
-
The Achilles’ heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise
-
26 Landstrom, A.P., Ackerman, M.J., The Achilles’ heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise. Clin Pharmacol Ther 90 (2011), 496–499.
-
(2011)
Clin Pharmacol Ther
, vol.90
, pp. 496-499
-
-
Landstrom, A.P.1
Ackerman, M.J.2
-
27
-
-
80051710052
-
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies
-
27 Ackermann, M.J., Priori, S.G., Willems, S., et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace 13 (2011), 1077–1109.
-
(2011)
Europace
, vol.13
, pp. 1077-1109
-
-
Ackermann, M.J.1
Priori, S.G.2
Willems, S.3
-
28
-
-
0004129413
-
Cardiovascular medicine
-
3rd ed. Springer New York ISBN-10: 1846281881. P2592
-
28 Willerson, J., Cohn, J., Wellens, H., Holmes, D., Cardiovascular medicine. 3rd ed., 2007, Springer, New York ISBN-10: 1846281881. P2592.
-
(2007)
-
-
Willerson, J.1
Cohn, J.2
Wellens, H.3
Holmes, D.4
-
29
-
-
79952715853
-
Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice
-
29 Tester, D.J., Ackerman, M.J., Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation 123 (2011), 1021–1037.
-
(2011)
Circulation
, vol.123
, pp. 1021-1037
-
-
Tester, D.J.1
Ackerman, M.J.2
-
30
-
-
84978607529
-
-
Exome Aggregation Consortium (ExAC), Cambridge, MA. Available at: Accessed June 3
-
30 Exome Aggregation Consortium (ExAC), Cambridge, MA. Available at: http://exac.broadinstitute.org. Accessed June 3, 2015.
-
(2015)
-
-
-
31
-
-
65449153647
-
Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A
-
31 Tfelt-Hansen, J., Jespersen, T., Hofman-Bang, J., et al. Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. Can J Cardiol 25 (2009), 156–160.
-
(2009)
Can J Cardiol
, vol.25
, pp. 156-160
-
-
Tfelt-Hansen, J.1
Jespersen, T.2
Hofman-Bang, J.3
-
32
-
-
84863116641
-
Truncations of titin causing dilated cardiomyopathy
-
32 Herman, D.S., Lam, L., Taylor, M.R., et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366 (2012), 619–628.
-
(2012)
N Engl J Med
, vol.366
, pp. 619-628
-
-
Herman, D.S.1
Lam, L.2
Taylor, M.R.3
-
33
-
-
84988449067
-
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
-
33 Roberts, A.M., Ware, J.S., Herman, D.S., et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med, 7, 2015, 270ra6.
-
(2015)
Sci Transl Med
, vol.7
, pp. 270ra6
-
-
Roberts, A.M.1
Ware, J.S.2
Herman, D.S.3
-
34
-
-
84890389952
-
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
-
34 Jabbari, J., Jabbari, R., Nielsen, M.W., et al. New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet 6 (2013), 481–489.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 481-489
-
-
Jabbari, J.1
Jabbari, R.2
Nielsen, M.W.3
-
35
-
-
84864144507
-
High prevalence of genetic variants previously associated with LQT syndrome in new exome data
-
35 Refsgaard, L., Holst, A.G., Sadjadieh, G., Haunsø, S., Nielsen, J.B., Olesen, M.S., High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet 20 (2012), 905–908.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 905-908
-
-
Refsgaard, L.1
Holst, A.G.2
Sadjadieh, G.3
Haunsø, S.4
Nielsen, J.B.5
Olesen, M.S.6
-
36
-
-
84860826709
-
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era
-
36 Norton, N., Robertson, P.D., Rieder, M.J., et al. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet 5 (2012), 167–174.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 167-174
-
-
Norton, N.1
Robertson, P.D.2
Rieder, M.J.3
-
37
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
37 Bell, C.J., Dinwiddie, D.L., Miller, N.A., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med, 3, 2011, 65ra4.
-
(2011)
Sci Transl Med
, vol.3
, pp. 65ra4
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
-
38
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
38 Grantham, R., Amino acid difference formula to help explain protein evolution. Science 185 (1974), 862–864.
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
39
-
-
84868615791
-
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome
-
39 Giudicessi, J.R., Kapplinger, J.D., Tester, D.J., et al. Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet 5 (2012), 519–528.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 519-528
-
-
Giudicessi, J.R.1
Kapplinger, J.D.2
Tester, D.J.3
-
40
-
-
84939564961
-
Enhanced classification of Brugada syndrome- and long QT syndrome-associated genetic variants in the SCN5A-encoded Nav1.5 cardiac sodium channel
-
[Epub ahead of print]
-
40 Kapplinger, J.D., Giudicessi, J.R., Ye, D., et al. Enhanced classification of Brugada syndrome- and long QT syndrome-associated genetic variants in the SCN5A-encoded Nav1.5 cardiac sodium channel. Circ Cardiovasc Genet, 2015 [Epub ahead of print].
-
(2015)
Circ Cardiovasc Genet
-
-
Kapplinger, J.D.1
Giudicessi, J.R.2
Ye, D.3
-
41
-
-
84938538172
-
Determining the pathogenicity of genetic variants associated with cardiac channelopathies
-
41 Campuzano, O., Allegue, C., Fernandez, A., Iglesias, A., Brugada, R., Determining the pathogenicity of genetic variants associated with cardiac channelopathies. Sci Rep, 5, 2015, 7953.
-
(2015)
Sci Rep
, vol.5
, pp. 7953
-
-
Campuzano, O.1
Allegue, C.2
Fernandez, A.3
Iglesias, A.4
Brugada, R.5
-
42
-
-
77957254021
-
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study
-
42 Itoh, H., Shimizu, W., Hayashi, K., et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm 7 (2010), 1411–1418.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1411-1418
-
-
Itoh, H.1
Shimizu, W.2
Hayashi, K.3
-
43
-
-
84867081985
-
Spectrum and prevalence of mutations involving BrS1-12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing
-
43 Crotti, L., Marcou, C.A., Tester, D.J., et al. Spectrum and prevalence of mutations involving BrS1-12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol 60 (2012), 1410–1418.
-
(2012)
J Am Coll Cardiol
, vol.60
, pp. 1410-1418
-
-
Crotti, L.1
Marcou, C.A.2
Tester, D.J.3
-
44
-
-
78650088297
-
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
-
44 Burashnikov, E., Pfeiffer, R., Barajas-Martinez, H., et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm 7 (2010), 1872–1882.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1872-1882
-
-
Burashnikov, E.1
Pfeiffer, R.2
Barajas-Martinez, H.3
-
45
-
-
33846627787
-
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
-
45 Antzelevitch, C., Pollevick, G.D., Cordeiro, J.M., et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 115 (2007), 442–449.
-
(2007)
Circulation
, vol.115
, pp. 442-449
-
-
Antzelevitch, C.1
Pollevick, G.D.2
Cordeiro, J.M.3
-
46
-
-
60749121565
-
Role of HCN4 channel in preventing ventricular arrhythmia
-
46 Ueda, K., Hirano, Y., Higashiuesato, Y., et al. Role of HCN4 channel in preventing ventricular arrhythmia. J Hum Genet 54 (2009), 115–121.
-
(2009)
J Hum Genet
, vol.54
, pp. 115-121
-
-
Ueda, K.1
Hirano, Y.2
Higashiuesato, Y.3
-
47
-
-
84873856880
-
A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5
-
47 Ishikawa, T., Sato, A., Marcou, C.A., et al. A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5. Circ Arrhythm Electrophysiol 5 (2012), 1098–1107.
-
(2012)
Circ Arrhythm Electrophysiol
, vol.5
, pp. 1098-1107
-
-
Ishikawa, T.1
Sato, A.2
Marcou, C.A.3
-
48
-
-
70449435450
-
The genetic basis of long QT and short QT syndromes: a mutation update
-
48 Hedley, P.L., Jørgensen, P., Schlamowitz, S., Wangari, R., Moolman-Smook, J., Brink, P.A., The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat 30 (2009), 1486–1511.
-
(2009)
Hum Mutat
, vol.30
, pp. 1486-1511
-
-
Hedley, P.L.1
Jørgensen, P.2
Schlamowitz, S.3
Wangari, R.4
Moolman-Smook, J.5
Brink, P.A.6
-
49
-
-
77953119778
-
Identification of a Kir3.4 mutation in congenital long QT syndrome
-
49 Yang, Y., Liang, B., Liu, J., et al. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet 86 (2010), 872–880.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 872-880
-
-
Yang, Y.1
Liang, B.2
Liu, J.3
-
50
-
-
84874664698
-
Calmodulin mutations associated with recurrent cardiac arrest in infants
-
50 Crotti, L., Johnson, C.N., Graf, E., et al. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 127 (2013), 1009–1017.
-
(2013)
Circulation
, vol.127
, pp. 1009-1017
-
-
Crotti, L.1
Johnson, C.N.2
Graf, E.3
-
51
-
-
0036645605
-
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
-
51 Priori, S.G., Napolitano, C., Memmi, M., et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 106 (2002), 69–74.
-
(2002)
Circulation
, vol.106
, pp. 69-74
-
-
Priori, S.G.1
Napolitano, C.2
Memmi, M.3
-
52
-
-
0035205336
-
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
-
52 Lahat, H., Pras, E., Olender, T., et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 69 (2001), 1378–1384.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1378-1384
-
-
Lahat, H.1
Pras, E.2
Olender, T.3
-
53
-
-
84861719157
-
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human
-
53 Roux-Buisson, N., Cacheux, M., Fourest-Lieuvin, A., et al. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet 21 (2012), 2759–2767.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2759-2767
-
-
Roux-Buisson, N.1
Cacheux, M.2
Fourest-Lieuvin, A.3
-
54
-
-
84867242998
-
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death
-
54 Nyegaard, M., Overgaard, M.T., Søndergaard, M.T., et al. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet 91 (2012), 703–712.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 703-712
-
-
Nyegaard, M.1
Overgaard, M.T.2
Søndergaard, M.T.3
-
55
-
-
2542491002
-
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
-
55 Bellocq, C., van Ginneken, A.C., Bezzina, C.R., et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109 (2004), 2394–2397.
-
(2004)
Circulation
, vol.109
, pp. 2394-2397
-
-
Bellocq, C.1
van Ginneken, A.C.2
Bezzina, C.R.3
-
56
-
-
84876933197
-
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation
-
56 Bartos, D.C., Anderson, J.B., Bastiaenen, R., et al. A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. J Cardiovasc Electrophysiol 24 (2013), 562–569.
-
(2013)
J Cardiovasc Electrophysiol
, vol.24
, pp. 562-569
-
-
Bartos, D.C.1
Anderson, J.B.2
Bastiaenen, R.3
-
57
-
-
20244364402
-
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
-
57 Priori, S.G., Pandit, S.V., Rivolta, I., et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 96 (2005), 800–807.
-
(2005)
Circ Res
, vol.96
, pp. 800-807
-
-
Priori, S.G.1
Pandit, S.V.2
Rivolta, I.3
-
58
-
-
6344292572
-
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation
-
58 Yang, Y., Xia, M., Jin, Q., et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 75 (2004), 899–905.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 899-905
-
-
Yang, Y.1
Xia, M.2
Jin, Q.3
-
59
-
-
20444372298
-
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation
-
59 Xia, M., Jin, Q., Bendahhou, S., et al. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun 332 (2005), 1012–1019.
-
(2005)
Biochem Biophys Res Commun
, vol.332
, pp. 1012-1019
-
-
Xia, M.1
Jin, Q.2
Bendahhou, S.3
-
60
-
-
77957268950
-
Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes
-
60 Medeiros-Domingo, A., Tan, B.H., Crotti, L., et al. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm 7 (2010), 1466–1471.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1466-1471
-
-
Medeiros-Domingo, A.1
Tan, B.H.2
Crotti, L.3
-
61
-
-
58149136840
-
Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel
-
61 Haïssaguerre, M., Chatel, S., Sacher, F., et al. Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J Cardiovasc Electrophysiol 20 (2009), 93–98.
-
(2009)
J Cardiovasc Electrophysiol
, vol.20
, pp. 93-98
-
-
Haïssaguerre, M.1
Chatel, S.2
Sacher, F.3
-
62
-
-
64249126720
-
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation
-
62 Alders, M., Koopmann, T.T., Christiaans, I., et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet 84 (2009), 468–476.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 468-476
-
-
Alders, M.1
Koopmann, T.T.2
Christiaans, I.3
-
63
-
-
0037637420
-
Pacemaker channel dysfunction in a patient with sinus node disease
-
63 Schulze-Bahr, E., Neu, A., Friederich, P., et al. Pacemaker channel dysfunction in a patient with sinus node disease. J Clin Invest 111 (2003), 1537–1545.
-
(2003)
J Clin Invest
, vol.111
, pp. 1537-1545
-
-
Schulze-Bahr, E.1
Neu, A.2
Friederich, P.3
-
64
-
-
0003096674
-
Cardiac conduction defects associate with mutations in SCN5A
-
64 Schott, J.J., Alshinawi, C., Kyndt, F., et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23 (1999), 20–21.
-
(1999)
Nat Genet
, vol.23
, pp. 20-21
-
-
Schott, J.J.1
Alshinawi, C.2
Kyndt, F.3
-
65
-
-
84857130850
-
Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization
-
65 Watanabe, H., Nogami, A., Ohkubo, K., et al. Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization. Circ Arrhythm Electrophysiol 4 (2011), 874–881.
-
(2011)
Circ Arrhythm Electrophysiol
, vol.4
, pp. 874-881
-
-
Watanabe, H.1
Nogami, A.2
Ohkubo, K.3
-
66
-
-
0242317397
-
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
-
66 Benson, D.W., Wang, D.W., Dyment, M., et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 112 (2003), 1019–1028.
-
(2003)
J Clin Invest
, vol.112
, pp. 1019-1028
-
-
Benson, D.W.1
Wang, D.W.2
Dyment, M.3
-
67
-
-
45749132521
-
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
-
67 Makita, N., Behr, E., Shimizu, W., et al. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 118 (2008), 2219–2229.
-
(2008)
J Clin Invest
, vol.118
, pp. 2219-2229
-
-
Makita, N.1
Behr, E.2
Shimizu, W.3
-
68
-
-
0033533990
-
A single Na(+) channel mutation causing both long-QT and Brugada syndromes
-
68 Bezzina, C., Veldkamp, M.W., van Den Berg, M.P., et al. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 85 (1999), 1206–1213.
-
(1999)
Circ Res
, vol.85
, pp. 1206-1213
-
-
Bezzina, C.1
Veldkamp, M.W.2
van Den Berg, M.P.3
-
69
-
-
84863491451
-
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy
-
69 Laurent, G., Saal, S., Amarouch, M.Y., et al. Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. J Am Coll Cardiol 60 (2012), 144–156.
-
(2012)
J Am Coll Cardiol
, vol.60
, pp. 144-156
-
-
Laurent, G.1
Saal, S.2
Amarouch, M.Y.3
-
70
-
-
46849110148
-
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families
-
70 Behr, E.R., Dalageorgou, C., Christiansen, M., et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 29 (2008), 1670–1680.
-
(2008)
Eur Heart J
, vol.29
, pp. 1670-1680
-
-
Behr, E.R.1
Dalageorgou, C.2
Christiansen, M.3
-
71
-
-
70449367296
-
Prevalence of the congenital long-QT syndrome
-
71 Schwartz, P.J., Stramba-Badiale, M., Crotti, L., et al. Prevalence of the congenital long-QT syndrome. Circulation 120 (2009), 1761–1767.
-
(2009)
Circulation
, vol.120
, pp. 1761-1767
-
-
Schwartz, P.J.1
Stramba-Badiale, M.2
Crotti, L.3
-
72
-
-
84911874589
-
Genetic and clinical advances in congenital long QT syndrome
-
72 Mizusawa, Y., Horie, M., Wilde, A.A., Genetic and clinical advances in congenital long QT syndrome. Circ J 78 (2014), 2827–2833.
-
(2014)
Circ J
, vol.78
, pp. 2827-2833
-
-
Mizusawa, Y.1
Horie, M.2
Wilde, A.A.3
-
73
-
-
84892408849
-
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote
-
73 Hedley, P.L., Kanters, J.K., Dembic, M., et al. The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote. Circ Cardiovasc Genet 6 (2013), 452–461.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 452-461
-
-
Hedley, P.L.1
Kanters, J.K.2
Dembic, M.3
-
74
-
-
0036868384
-
Proposed diagnostic criteria for the Brugada syndrome
-
74 Wilde, A., Antzelevitch, C., Borggrefe, M., et al. Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J 23 (2002), 1648–1654.
-
(2002)
Eur Heart J
, vol.23
, pp. 1648-1654
-
-
Wilde, A.1
Antzelevitch, C.2
Borggrefe, M.3
-
75
-
-
0033044699
-
The circadian pattern of the development of ventricular fibrillation in patients with Brugada syndrome
-
75 Matsuo, K., Kurita, T., Inagaki, M., et al. The circadian pattern of the development of ventricular fibrillation in patients with Brugada syndrome. Eur Heart J 20 (1999), 465–470.
-
(1999)
Eur Heart J
, vol.20
, pp. 465-470
-
-
Matsuo, K.1
Kurita, T.2
Inagaki, M.3
-
76
-
-
77949626403
-
Fever-triggered ventricular arrhythmias in Brugada syndrome and type 2 long-QT syndrome
-
76 Amin, A.S., Klemens, C.A., Verkerk, A.O., et al. Fever-triggered ventricular arrhythmias in Brugada syndrome and type 2 long-QT syndrome. Neth Heart J 18 (2010), 165–169.
-
(2010)
Neth Heart J
, vol.18
, pp. 165-169
-
-
Amin, A.S.1
Klemens, C.A.2
Verkerk, A.O.3
-
77
-
-
20044368228
-
Intravenous drug challenge using flecainide and ajmaline in patients with Brugada syndrome
-
77 Wolpert, C., Echternach, C., Veltmann, C., et al. Intravenous drug challenge using flecainide and ajmaline in patients with Brugada syndrome. Heart Rhythm 2 (2005), 254–260.
-
(2005)
Heart Rhythm
, vol.2
, pp. 254-260
-
-
Wolpert, C.1
Echternach, C.2
Veltmann, C.3
-
78
-
-
79957988353
-
Low prevalence of risk markers in cases of sudden death due to Brugada syndrome: relevance to risk stratification in Brugada syndrome
-
78 Raju, H., Papadakis, M., Govindan, M., et al. Low prevalence of risk markers in cases of sudden death due to Brugada syndrome: relevance to risk stratification in Brugada syndrome. J Am Coll Cardiol 57 (2011), 2340–2345.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 2340-2345
-
-
Raju, H.1
Papadakis, M.2
Govindan, M.3
-
79
-
-
84882450864
-
Epidemiology of Brugada syndrome in Japan and the rest of the world
-
79 Kamakura, S., Epidemiology of Brugada syndrome in Japan and the rest of the world. J Arrhythmia 29 (2013), 52–55.
-
(2013)
J Arrhythmia
, vol.29
, pp. 52-55
-
-
Kamakura, S.1
-
80
-
-
84897995302
-
Brugada syndrome: a heterogeneous disease with a common ECG phenotype?
-
80 Gray, B., Semsarian, C., Sy, R.W., Brugada syndrome: a heterogeneous disease with a common ECG phenotype?. J Cardiovasc Electrophysiol 25 (2014), 450–456.
-
(2014)
J Cardiovasc Electrophysiol
, vol.25
, pp. 450-456
-
-
Gray, B.1
Semsarian, C.2
Sy, R.W.3
-
81
-
-
84978611355
-
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease
-
81 Schulze-Bahr, E., Eckardt, L., Breithardt, G., et al. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat, 26, 2005, 61.
-
(2005)
Hum Mutat
, vol.26
, pp. 61
-
-
Schulze-Bahr, E.1
Eckardt, L.2
Breithardt, G.3
-
82
-
-
84883461171
-
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
-
82 Bezzina, C.R., Barc, J., Mizusawa, Y., et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 45 (2013), 1044–1049.
-
(2013)
Nat Genet
, vol.45
, pp. 1044-1049
-
-
Bezzina, C.R.1
Barc, J.2
Mizusawa, Y.3
-
83
-
-
13444300924
-
Brugada syndrome: report of the Second Consensus Conference Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
-
83 Antzelevitch, C., Brugada, P., Borggrefe, M., et al. Brugada syndrome: report of the Second Consensus Conference Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 111 (2005), 659–670.
-
(2005)
Circulation
, vol.111
, pp. 659-670
-
-
Antzelevitch, C.1
Brugada, P.2
Borggrefe, M.3
-
84
-
-
72449147774
-
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
-
84 Kapplinger, D., Tester, D.J., Alders, M., et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 7 (2010), 33–46.
-
(2010)
Heart Rhythm
, vol.7
, pp. 33-46
-
-
Kapplinger, D.1
Tester, D.J.2
Alders, M.3
-
85
-
-
0035254170
-
Cardiac sodium channel and inherited arrhythmia syndromes
-
85 Bezzina, C.R., Rook, M.B., Wilde, A.A., Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res 49 (2001), 257–271.
-
(2001)
Cardiovasc Res
, vol.49
, pp. 257-271
-
-
Bezzina, C.R.1
Rook, M.B.2
Wilde, A.A.3
-
86
-
-
77449091606
-
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
-
86 Probst, V., Wilde, A.A., Barc, J., et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2 (2009), 552–557.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 552-557
-
-
Probst, V.1
Wilde, A.A.2
Barc, J.3
-
87
-
-
84903844924
-
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome
-
87 Hu, D., Barajas-Martínez, H., Pfeiffer, R., et al. Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. J Am Coll Cardiol 64 (2014), 66–79.
-
(2014)
J Am Coll Cardiol
, vol.64
, pp. 66-79
-
-
Hu, D.1
Barajas-Martínez, H.2
Pfeiffer, R.3
-
88
-
-
0016662531
-
Bidirectional tachycardia in a child: a study using His bundle electrography
-
88 Reid, D.S., Tynan, M., Braidwood, L., Fitzgerald, G.R., Bidirectional tachycardia in a child: a study using His bundle electrography. Br Heart J 37 (1975), 339–344.
-
(1975)
Br Heart J
, vol.37
, pp. 339-344
-
-
Reid, D.S.1
Tynan, M.2
Braidwood, L.3
Fitzgerald, G.R.4
-
89
-
-
84890795530
-
Clinical utility gene card for: catecholaminergic polymorphic ventricular tachycardia (CPVT)
-
published online April 3, 2013
-
89 Napolitano, C., Bloise, R., Memmi, M., Priori, S., Clinical utility gene card for: catecholaminergic polymorphic ventricular tachycardia (CPVT). Eur J Hum Genet, 22, 2014, 10.1038/ejhg.2013.55 published online April 3, 2013.
-
(2014)
Eur J Hum Genet
, vol.22
-
-
Napolitano, C.1
Bloise, R.2
Memmi, M.3
Priori, S.4
-
90
-
-
84889684821
-
Principles and practice of clinical cardiovascular genetics
-
Oxford University Press US ISBN 978-0-19-536895-6
-
90 Kumar, D., Elliot, P., Principles and practice of clinical cardiovascular genetics. 2010, Oxford University Press, US, P257 ISBN 978-0-19-536895-6.
-
(2010)
, pp. P257
-
-
Kumar, D.1
Elliot, P.2
-
91
-
-
80051551296
-
Sudden death and ion channel disease: pathophysiology and implications for management
-
91 Bastiaenen, R., Behr, E., Sudden death and ion channel disease: pathophysiology and implications for management. Heart 97 (2011), 1365–1372.
-
(2011)
Heart
, vol.97
, pp. 1365-1372
-
-
Bastiaenen, R.1
Behr, E.2
-
92
-
-
84863860915
-
Catecholaminergic polymorphic ventricular tachycardia
-
R.A. Pagon M.P. Adam H.H. Ardinger et al. (eds.) University of Washington, Seattle Seattle, WA Available at: Accessed March 6, 2014
-
92 Napolitano, C., Priori, S.G., Bloise, R., Catecholaminergic polymorphic ventricular tachycardia. Pagon, R.A., Adam, M.P., Ardinger, H.H., et al. (eds.) GeneReviews® [Internet], 2004, University of Washington, Seattle, Seattle, WA, 1993–2014 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1289/ Accessed March 6, 2014.
-
(2004)
GeneReviews® [Internet]
, pp. 1993-2014
-
-
Napolitano, C.1
Priori, S.G.2
Bloise, R.3
-
93
-
-
33845611191
-
Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies
-
93 George, C.H., Jundi, H., Thomas, N.L., Fry, D.L., Lai, F.A., Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies. J Mol Cell Cardiol 42 (2007), 34–50.
-
(2007)
J Mol Cell Cardiol
, vol.42
, pp. 34-50
-
-
George, C.H.1
Jundi, H.2
Thomas, N.L.3
Fry, D.L.4
Lai, F.A.5
-
94
-
-
71849090068
-
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
-
94 Medeiros-Domingo, A., Bhuiyan, Z.A., Tester, D.J., et al. 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 54 (2009), 2065–2074.
-
(2009)
J Am Coll Cardiol
, vol.54
, pp. 2065-2074
-
-
Medeiros-Domingo, A.1
Bhuiyan, Z.A.2
Tester, D.J.3
-
95
-
-
84867146769
-
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives
-
95 Van der Werf, C., Nederend, I., Hofman, N., et al. Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol 5 (2012), 748–756.
-
(2012)
Circ Arrhythm Electrophysiol
, vol.5
, pp. 748-756
-
-
Van der Werf, C.1
Nederend, I.2
Hofman, N.3
-
96
-
-
33646693410
-
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
-
96 Maron, B.J., Towbin, J.A., 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 113 (2006), 1807–1816.
-
(2006)
Circulation
, vol.113
, pp. 1807-1816
-
-
Maron, B.J.1
Towbin, J.A.2
Thiene, G.3
-
97
-
-
84907526364
-
Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy
-
97 Roma-Rodrigues, C., Fernandes, A., Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy. Appl Clin Genet 7 (2014), 195–208.
-
(2014)
Appl Clin Genet
, vol.7
, pp. 195-208
-
-
Roma-Rodrigues, C.1
Fernandes, A.2
-
98
-
-
0003906668
-
Practical cardiovascular pathology
-
2nd ed CRC Press US ISBN-10: 0340981938
-
98 Sheppard, M., Practical cardiovascular pathology. 2nd ed, 2011, CRC Press, US ISBN-10: 0340981938.
-
(2011)
-
-
Sheppard, M.1
-
99
-
-
84878318267
-
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years’ experience
-
99 van Spaendonck-Zwarts, K.Y., van Rijsingen, I.A., van den Berg, M.P., et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years’ experience. Eur J Heart Fail 15 (2013), 628–636.
-
(2013)
Eur J Heart Fail
, vol.15
, pp. 628-636
-
-
van Spaendonck-Zwarts, K.Y.1
van Rijsingen, I.A.2
van den Berg, M.P.3
-
100
-
-
84881293515
-
Genetics and genetic testing of dilated cardiomyopathy: a new perspective
-
100 Mestroni, L., Taylor, M., Genetics and genetic testing of dilated cardiomyopathy: a new perspective. Discov Med 15 (2013), 43–49.
-
(2013)
Discov Med
, vol.15
, pp. 43-49
-
-
Mestroni, L.1
Taylor, M.2
-
101
-
-
77951888116
-
Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment
-
101 Sen-Chowdhry, S., Morgan, R.D., Chambers, J.C., McKenna, W.J., Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment. Annu Rev Med 61 (2010), 233–253.
-
(2010)
Annu Rev Med
, vol.61
, pp. 233-253
-
-
Sen-Chowdhry, S.1
Morgan, R.D.2
Chambers, J.C.3
McKenna, W.J.4
-
102
-
-
75249096712
-
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
102 Marcus, F.I., McKenna, W.J., Sherrill, D., et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 121 (2010), 1533–1541.
-
(2010)
Circulation
, vol.121
, pp. 1533-1541
-
-
Marcus, F.I.1
McKenna, W.J.2
Sherrill, D.3
-
103
-
-
0242329842
-
Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
-
103 Behr, E., Wood, D.A., Wright, M., et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet 362 (2003), 1457–1459.
-
(2003)
Lancet
, vol.362
, pp. 1457-1459
-
-
Behr, E.1
Wood, D.A.2
Wright, M.3
-
104
-
-
77957257904
-
Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands
-
104 Van der Werf, C., Hofman, N., Tan, H.L., et al. 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 7 (2010), 1383–1389.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1383-1389
-
-
Van der Werf, C.1
Hofman, N.2
Tan, H.L.3
-
105
-
-
22144439771
-
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives
-
105 Tan, H.L., Hofman, N., van Langen, I.M., van der Wal, A.C., Wilde, A.A., Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 112 (2005), 207–213.
-
(2005)
Circulation
, vol.112
, pp. 207-213
-
-
Tan, H.L.1
Hofman, N.2
van Langen, I.M.3
van der Wal, A.C.4
Wilde, A.A.5
-
106
-
-
84879578013
-
Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome
-
106 McGorrian, C., Constant, O., Harper, N., et al. Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace 15 (2013), 1050–1058.
-
(2013)
Europace
, vol.15
, pp. 1050-1058
-
-
McGorrian, C.1
Constant, O.2
Harper, N.3
-
107
-
-
84887001335
-
Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes
-
107 Kumar, S., Peters, S., Thompson, T., et al. Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm 10 (2013), 1653–1660.
-
(2013)
Heart Rhythm
, vol.10
, pp. 1653-1660
-
-
Kumar, S.1
Peters, S.2
Thompson, T.3
-
108
-
-
84925714472
-
Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome
-
108 Mellor, G., Raju, H., de Noronha, S.V., et al. Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome. Circ Arrhythm Electrophysiol 7 (2014), 1078–1083.
-
(2014)
Circ Arrhythm Electrophysiol
, vol.7
, pp. 1078-1083
-
-
Mellor, G.1
Raju, H.2
de Noronha, S.V.3
-
109
-
-
84886878667
-
Genetic analysis of sudden unexplained death: a multidisciplinary approach
-
109 Kauferstein, S., Kiehne, N., Jenewein, T., et al. Genetic analysis of sudden unexplained death: a multidisciplinary approach. Forensic Sci Int 229 (2013), 122–127.
-
(2013)
Forensic Sci Int
, vol.229
, pp. 122-127
-
-
Kauferstein, S.1
Kiehne, N.2
Jenewein, T.3
-
110
-
-
84922758339
-
Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up
-
110 van der Werf, C., Stiekema, L., Tan, H.L., et al. Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up. Heart Rhythm 11 (2014), 1728–1732.
-
(2014)
Heart Rhythm
, vol.11
, pp. 1728-1732
-
-
van der Werf, C.1
Stiekema, L.2
Tan, H.L.3
-
111
-
-
41149114636
-
Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement
-
111 Garratt, C.J., Elliott, P., Behr, E.R., et al. Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement. Heart 94 (2008), 502–507.
-
(2008)
Heart
, vol.94
, pp. 502-507
-
-
Garratt, C.J.1
Elliott, P.2
Behr, E.R.3
-
112
-
-
84896435310
-
Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death
-
112 Erskine, K.E., Hidayatallah, N.Z., Walsh, C.A., et al. Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death. J Genet Couns 23 (2014), 849–859.
-
(2014)
J Genet Couns
, vol.23
, pp. 849-859
-
-
Erskine, K.E.1
Hidayatallah, N.Z.2
Walsh, C.A.3
-
113
-
-
84978627019
-
-
UK Department of Health. National Service Framework for Coronary Heart Disease—Chapter 8: arrhythmias and sudden cardiac death. 2005. Available at: http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4105280.pdf. Accessed June 4
-
113 UK Department of Health. National Service Framework for Coronary Heart Disease—Chapter 8: arrhythmias and sudden cardiac death. 2005. Available at: http://webarchive.nationalarchives.gov.uk/20130107105354/http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4105280.pdf. Accessed June 4, 2016.
-
(2016)
-
-
-
114
-
-
84875726044
-
Scope and nature of sudden cardiac death before age 40 in Ontario: a report from the cardiac death advisory committee of the office of the chief coroner
-
114 Pilmer, C.M., Porter, B., Kirsh, J.A., et al. Scope and nature of sudden cardiac death before age 40 in Ontario: a report from the cardiac death advisory committee of the office of the chief coroner. Heart Rhythm 10 (2013), 517–523.
-
(2013)
Heart Rhythm
, vol.10
, pp. 517-523
-
-
Pilmer, C.M.1
Porter, B.2
Kirsh, J.A.3
-
115
-
-
57149087496
-
Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative
-
115 Skinner, J.R., Duflou, J.A., Semsarian, C., Reducing sudden death in young people in Australia and New Zealand: the TRAGADY initiative. Med J Aust 189 (2008), 539–540.
-
(2008)
Med J Aust
, vol.189
, pp. 539-540
-
-
Skinner, J.R.1
Duflou, J.A.2
Semsarian, C.3
-
116
-
-
41649090413
-
Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue
-
116 Carturan, E., Tester, D.J., Brost, B.C., Basso, C., Thiene, G., Ackerman, M.J., Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue. Am J Clin Pathol 129 (2008), 391–397.
-
(2008)
Am J Clin Pathol
, vol.129
, pp. 391-397
-
-
Carturan, E.1
Tester, D.J.2
Brost, B.C.3
Basso, C.4
Thiene, G.5
Ackerman, M.J.6
-
117
-
-
84887481030
-
National Association of Medical Examiners Position Paper: retaining postmortem samples for genetic testing
-
117 Middleton, O., Baxter, S., Demo, E., et al. National Association of Medical Examiners Position Paper: retaining postmortem samples for genetic testing. Acad Forensic Pathol 3 (2013), 191–194.
-
(2013)
Acad Forensic Pathol
, vol.3
, pp. 191-194
-
-
Middleton, O.1
Baxter, S.2
Demo, E.3
-
118
-
-
0033533770
-
Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning
-
118 Ackerman, M.J., Tester, D.J., Coburn, J.P., Edwards, W.D., Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning. N Engl J Med 341 (1999), 1121–1125.
-
(1999)
N Engl J Med
, vol.341
, pp. 1121-1125
-
-
Ackerman, M.J.1
Tester, D.J.2
Coburn, J.P.3
Edwards, W.D.4
-
119
-
-
33750348298
-
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young
-
119 Tester, D.J., Ackerman, M.J., Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 49 (2007), 240–246.
-
(2007)
J Am Coll Cardiol
, vol.49
, pp. 240-246
-
-
Tester, D.J.1
Ackerman, M.J.2
-
120
-
-
7544230111
-
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases
-
120 Tester, D.J., Spoon, D.B., Valdivia, H.H., Makielski, J.C., Ackerman, M.J., Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc 79 (2004), 1380–1384.
-
(2004)
Mayo Clin Proc
, vol.79
, pp. 1380-1384
-
-
Tester, D.J.1
Spoon, D.B.2
Valdivia, H.H.3
Makielski, J.C.4
Ackerman, M.J.5
-
121
-
-
79952146247
-
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
-
121 Skinner, J.R., Crawford, J., Smith, W., et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm 8 (2011), 412–419.
-
(2011)
Heart Rhythm
, vol.8
, pp. 412-419
-
-
Skinner, J.R.1
Crawford, J.2
Smith, W.3
-
122
-
-
84867742485
-
The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases
-
122 Winkel, B., Larsen, M., Olesen, M., Tfelt-Hansen, J., Banner, J., The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. J Cardiovasc Electrophysiol 23 (2012), 1092–1098.
-
(2012)
J Cardiovasc Electrophysiol
, vol.23
, pp. 1092-1098
-
-
Winkel, B.1
Larsen, M.2
Olesen, M.3
Tfelt-Hansen, J.4
Banner, J.5
-
123
-
-
85031874196
-
Molecular autopsy for sudden cardiac death—outcome of a practical approach
-
123 Dean, J., Cann, F., Corbett, M., et al. Molecular autopsy for sudden cardiac death—outcome of a practical approach. Heart Lung Circ, 23, 2014, e3.
-
(2014)
Heart Lung Circ
, vol.23
, pp. e3
-
-
Dean, J.1
Cann, F.2
Corbett, M.3
-
124
-
-
84863484022
-
Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
-
124 Tester, D.J., Medeiros-Domingo, A., Will, M.L., Haglund, C.M., Ackerman, M.J., Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc 87 (2012), 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
-
125
-
-
84896921083
-
Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young
-
125 Bagnall, R., Das, K.J., Duflou, J., Semsarian, C., Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm 11 (2014), 655–662.
-
(2014)
Heart Rhythm
, vol.11
, pp. 655-662
-
-
Bagnall, R.1
Das, K.J.2
Duflou, J.3
Semsarian, C.4
-
126
-
-
84872401976
-
Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases
-
126 Larsen, M.K., Berge, K.E., Leren, T.P., et al. Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases. Int J Legal Med 127 (2013), 139–144.
-
(2013)
Int J Legal Med
, vol.127
, pp. 139-144
-
-
Larsen, M.K.1
Berge, K.E.2
Leren, T.P.3
-
127
-
-
84880029194
-
Overview of high throughput sequencing technologies to elucidate molecular pathways in cardiovascular diseases
-
127 Churko, J., Mantalas, G., Synder, M., Wu, J., Overview of high throughput sequencing technologies to elucidate molecular pathways in cardiovascular diseases. Circ Res 112 (2013), 1613–1623.
-
(2013)
Circ Res
, vol.112
, pp. 1613-1623
-
-
Churko, J.1
Mantalas, G.2
Synder, M.3
Wu, J.4
-
128
-
-
84892756617
-
Inherited arrhythmia syndromes: exome sequencing opens a new door to diagnosis
-
128 Chugh, S.S., Huertas-Vazquez, A., Inherited arrhythmia syndromes: exome sequencing opens a new door to diagnosis. J Am Coll Cardiol 63 (2014), 267–268.
-
(2014)
J Am Coll Cardiol
, vol.63
, pp. 267-268
-
-
Chugh, S.S.1
Huertas-Vazquez, A.2
-
129
-
-
84897004621
-
Incessant bidirectional ventricular tachycardia as the presenting arrhythmia of Andersen-Tawil syndrome in two families
-
Special Abstract Issue of ECAS
-
129 Laish-Farkash, A., Nof, E., Luria, D., et al. Incessant bidirectional ventricular tachycardia as the presenting arrhythmia of Andersen-Tawil syndrome in two families. J Interv Card Electrophysiol 24 (2009), 213–217 Special Abstract Issue of ECAS.
-
(2009)
J Interv Card Electrophysiol
, vol.24
, pp. 213-217
-
-
Laish-Farkash, A.1
Nof, E.2
Luria, D.3
-
130
-
-
84918818380
-
Sudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditions
-
130 Wong, L.C., Behr, E.R., Sudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditions. Europace 16 (2014), 1706–1713.
-
(2014)
Europace
, vol.16
, pp. 1706-1713
-
-
Wong, L.C.1
Behr, E.R.2
|