Assessment of Genetic Causes of Cardiac Arrest

Canadian Journal of Cardiology

Volumn 29, Issue 1, 2013, Pages 100-110

  Bennett, Matthew T ^a   Sanatani, Shubhayan ^b   Chakrabarti, Santabhanu ^a   Deyell, Marc W ^a   Krahn, Andrew D ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENALIN; PROCAINAMIDE; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5;

ACIDOSIS; BRAIN HEMORRHAGE; BRUGADA SYNDROME; CARDIOVASCULAR MAGNETIC RESONANCE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; COMMOTIO CORDIS; CONGESTIVE CARDIOMYOPATHY; CORONARY ARTERY SPASM; DNA DETERMINATION; DRUG DOSE INCREASE; DRUG OVERDOSE; ELECTROCARDIOGRAM; EPILEPSY; EXERCISE TEST; GENE MUTATION; GENETIC SCREENING; GENETICS; HEART ARREST; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE FIBRILLATION; HUMAN; HYPERKALEMIA; HYPERTROPHIC CARDIOMYOPATHY; HYPOCALCEMIA; HYPOKALEMIA; HYPOMAGNESEMIA; INHERITANCE; ISCHEMIC CARDIOMYOPATHY; ISCHEMIC HEART DISEASE; LONG QT SYNDROME; LUNG EMBOLISM; MEDICAL HISTORY; MYOCARDITIS; PATHOPHYSIOLOGY; POTASSIUM CURRENT; PREVALENCE; PROVOCATION TEST; REVIEW; SARCOIDOSIS; SENSITIVITY AND SPECIFICITY; SHORT QT SYNDROME; SUDDEN DEATH; TAKOTSUBO CARDIOMYOPATHY; UNEXPLAINED CARDIAC ARREST; VENTRICULAR NONCOMPACTION; WOLFF PARKINSON WHITE SYNDROME;

GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEART ARREST; HUMANS; INCIDENCE; RISK ASSESSMENT; WORLD HEALTH;

EID: 84871438294     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cjca.2012.07.002     Document Type: Review

References (72)

1. Myerburg R.J. Sudden cardiac death: exploring the limits of our knowledge. J Cardiovasc Electrophysiol 2001, 12:369-381.
2. Friedlander Y., Siscovick D.S., Weinmann S., et al. Family history as a risk factor for primary cardiac arrest. Circulation 1998, 97:155-160.
3. Jouven X., Desnos M., Guerot C., Ducimetière P. Predicting sudden death in the population: the Paris Prospective Study I. Circulation 1999, 99:1978-1983.
4. Krahn A.D., Healey J.S., Chauhan V., et al. Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) [erratum in 2010;121:e460]. Circulation 2009, 120:278-285.
5. Zipes D.P., Camm A.J., Borggrefe M., et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation 2006, 114:e385-e484.
6. Thiene G., Basso C., Corrado D. Sudden death in the young and in the athlete: causes, mechanisms and prevention. Cardiologia 1999, 44(suppl 1):415-421.
7. Maron B.J., Doerer J.J., Haas T.S., et al. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 2009, 119:1085-1092.
8. Etheridge S.P., Sanatani S., Cohen M.I., Albaro C.A., Saarel E.V., Bradley D.J. Long QT syndrome in children in the era of implantable defibrillators. J Am Coll Cardiol 2007, 50:1335-1340.
9. Goldenberg I., Moss A.J. Long QT syndrome. J Am Coll Cardiol 2008, 51:2291-2300.
10. Perrin M.J., Gollob M.H. Genetics of cardiac electrical disease. Can J Cardiol 2013, 29:89-99.
11. Schwartz P.J., Stramba-Badiale M., Crotti L., et al. Prevalence of the congenital long-QT syndrome. Circulation 2009, 120:1761-1767.
12. Adabag A.S., Luepker R.V., Roger V.L., Gersh B.J. Sudden cardiac death: epidemiology and risk factors. Nat Rev Cardiol 2010, 7:216-225.
13. Cerrone M., Priori S.G. Genetics of sudden death: focus on inherited channelopathies. Eur Heart J 2011, 32:2109-2118.
14. Gray C., Gula L.J., Klein G.J., et al. Expression of a common LQT1 mutation in five apparently unrelated families in a regional inherited arrhythmia clinic. J Cardiovasc Electrophysiol 2010, 21:296-300.
15. Walker B.D., Krahn A.D., Klein G.J., et al. Effect of change in posture and exercise on repolarization in patients with long QT syndrome with HERG channel mutations. Can J Cardiol 2005, 21:33-38.
16. Sy R.W., van der Werf C., Chattha I.S., et al. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation 2011, 124:2187-2194.
17. Viskin S., Postema P.G., Bhuiyan Z.A., et al. The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. J Am Coll Cardiol 2010, 55:1955-1961.
18. Wong J.A., Gula L.J., Klein G.J., Yee R., Skanes A.C., Krahn A.D. Utility of treadmill testing in identification and genotype prediction in long-QT syndrome. Circ Arrhythm Electrophysiol 2010, 3:120-125.
19. Chattha I.S., Sy R.W., Yee R., et al. Utility of the recovery electrocardiogram after exercise: a novel indicator for the diagnosis and genotyping of long QT syndrome?. Heart Rhythm 2010, 7:906-911.
20. Vyas H., Hejlik J., Ackerman M.J. Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. Circulation 2006, 113:1385-1392.
21. Shimizu W., Noda T., Takaki H., et al. Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. J Am Coll Cardiol 2003, 41:633-642.
22. Gollob M.H., Redpath C.J., Roberts J.D. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol 2010, 57:802-812.
23. Brugada P., Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992, 20:1391-1396.
24. Chen Q., Kirsch G.E., Zhang D., et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392:293-296.
25. Miyasaka Y., Tsuji H., Yamada K., et al. Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan. J Am Coll Cardiol 2001, 38:771-774.
26. Probst V., Veltmann C., Eckardt L., et al. Long-term prognosis of patients diagnosed with Brugada syndrome: results from the FINGER Brugada Syndrome Registry. Circulation 2010, 121:635-643.
27. Modi S., Krahn A.D. Sudden cardiac arrest without overt heart disease. Circulation 2011, 123:2994-3008.
28. Sy R.W., Gollob M.H., Klein G.J., et al. Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2011, 8:864-871.
29. Hayashi M., Denjoy I., Extramiana F., et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009, 119:2426-2434.
30. Quarta G., Muir A., Pantazis A., et al. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation 2011, 123:2701-2709.
31. Merner N.D., Hodgkinson K.A., Haywood A.F., et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 2008, 82:809-821.
32. Haissaguerre M., Derval N., Sacher F., et al. Sudden cardiac arrest associated with early repolarization. N Engl J Med 2008, 358:2016-2023.
33. Derval N., Simpson C.S., Birnie D.H., et al. Prevalence and characteristics of early repolarization in the CASPER registry: cardiac arrest survivors with preserved ejection fraction registry. J Am Coll Cardiol 2011, 58:722-728.
34. Tikkanen J.T., Anttonen O., Junttila M.J., et al. Long-term outcome associated with early repolarization on electrocardiography. N Engl J Med 2009, 361:2529-2537.
35. Bianco M., Zeppilli P. Early repolarization in the athlete. J Am Coll Cardiol 2009, 53:2199-2200. [author reply 2200].
36. Klatsky A.L., Oehm R., Cooper R.A., Udaltsova N., Armstrong M.A. The early repolarization normal variant electrocardiogram: correlates and consequences. Am J Med 2003, 115:171-177.
37. Benito B., Guasch E., Rivard L., Nattel S. Clinical and mechanistic issues in early repolarization of normal variants and lethal arrhythmia syndromes. J Am Coll Cardiol 2010, 56:1177-1186.
38. Rosso R., Adler A., Halkin A., Viskin S. Risk of sudden death among young individuals with J waves and early repolarization: putting the evidence into perspective. Heart Rhythm 2011, 8:923-929.
39. White J.A., Fine N.M., Gula L., et al. Utility of cardiovascular magnetic resonance in identifying substrate for malignant ventricular arrhythmias. Circ Cardiovasc Imaging 2012, 5:12-20.
40. Schwartz P.J., Priori S.G., Spazzolini C., et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103:89-95.
41. Leenhardt A., Lucet V., Denjoy I., Grau F., Ngoc D.D., Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995, 91:1512-1519.
42. Priori S.G., Aliot E., Blømstrom-Lundqvist C., et al. Task Force on Sudden Cardiac Death, European Society of Cardiology. Europace 2002, 4:3-18.
43. Tabib A., Loire R., Chalabreysse L., et al. Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation 2003, 108:3000-3005.
44. 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 1999, 20:465-470.
45. Giustetto C., Di Monte F., Wolpert C., et al. Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J 2006, 27:2440-2447.
46. El Menyar A.A. Drug-induced myocardial infarction secondary to coronary artery spasm in teenagers and young adults. J Postgrad Med 2006, 52:51-56.
47. Postema P.G., De Jong J.S., Van der Bilt I.A., Wilde A.A. Accurate electrocardiographic assessment of the QT interval: teach the tangent. Heart Rhythm 2008, 5:1015-1018.
48. Taggart N.W., Haglund C.M., Tester D.J., Ackerman M.J. Diagnostic miscues in congenital long-QT syndrome. Circulation 2007, 115:2613-2620.
49. Viskin S., Rosovski U., Sands A.J., et al. Inaccurate electrocardiographic interpretation of long QT: The majority of physicians cannot recognize a long QT when they see one. Heart Rhythm 2005, 2:569-574.
50. Tester D.J., Will M.L., Haglund C.M., Ackerman M.J. Effect of clinical phenotype on yield of long QT syndrome genetic testing. J Am Coll Cardiol 2006, 47:764-768.
51. 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 2005, 111:659-670.
52. Marcus F.I., McKenna W.J., Sherrill D., et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010, 121:1533-1541.
53. Kamath G.S., Zareba W., Delaney J., et al. Value of the signal-averaged electrocardiogram in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm 2011, 8:256-262.
54. Morita H., Kusano K.F., Miura D., et al. Fragmented QRS as a marker of conduction abnormality and a predictor of prognosis of Brugada syndrome. Circulation 2008, 118:1697-1704.
55. Sy R.W., Chattha I.S., Klein G.J., et al. Repolarization dynamics during exercise discriminate between LQT1 and LQT2 genotypes. J Cardiovasc Electrophysiol 2010, 21:1242-1246.
56. Horner J.M., Horner M.M., Ackerman M.J. The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome. Heart Rhythm 2011, 8:1698-1704.
57. Aziz P.F., Wieand T.S., Ganley J., et al. Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome. Circ Arrhythm Electrophysiol 2011, 4:867-873.
58. Krahn A.D., Gollob M., Yee R., et al. Diagnosis of unexplained cardiac arrest: role of adrenaline and procainamide infusion. Circulation 2005, 112:2228-2234.
59. Haugaa K.H., Leren I.S., Berge K.E., et al. High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening. Europace 2010, 12:417-423.
60. Obeyesekere M.N., Klein G.J., Modi S., et al. How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol 2011, 4:958-964.
61. Brugada R., Brugada J., Antzelevitch C., et al. Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation 2000, 101:510-515.
62. Shimizu W., Noda T., Takaki H., et al. Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. Heart Rhythm 2004, 1:276-283.
63. Viskin S., Rosso R., Rogowski O., et al. Provocation of sudden heart rate oscillation with adenosine exposes abnormal QT responses in patients with long QT syndrome: a bedside test for diagnosing long QT syndrome. Eur Heart J 2006, 27:469-475.
64. Marjamaa A., Hiippala A., Arrhenius B., et al. Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia. J Cardiovasc Electrophysiol 2012, 23:194-199.
65. Hong K., Brugada J., Oliva A., et al. Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. Circulation 2004, 110:3023-3027.
66. Meregalli P.G., Ruijter J.M., Hofman N., Bezzina C.R., Wilde A.A., Tan H.L. Diagnostic value of flecainide testing in unmasking SCN5A-related Brugada syndrome. J Cardiovasc Electrophysiol 2006, 17:857-864.
67. Friedrich M.G., Strohm O., Schulz-Menger J., Marciniak H., Luft F.C., Dietz R. Contrast media-enhanced magnetic resonance imaging visualizes myocardial changes in the course of viral myocarditis. Circ Arrhythm Electrophysiol 1998, 97:1802-1809.
68. Tester D.J., Ackerman M.J. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 2007, 49:240-246.
69. Rutberg J., Green M.S., Gow R.M., et al. Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian report. Can J Cardiol 2007, 23:904-906.
70. Gollob M.H., Blier L., Brugada R., et al. Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Can J Cardiol 2011, 27:232-245.
71. 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 2010, 7:1872-1882.
72. Haissaguerre 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 2009, 20:93-98.