Hypertrophic cardiomyopathy

References

Key articles

Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2020 Dec 22;142(25):e558-631.Full text  Abstract

Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. [Erratum in: Circulation. 2004 Jun 29;109(25):3258.]Full text  Abstract

O'Mahony C, Jichi F, Pavlou M, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014 Aug 7;35(30):2010-20.Full text  Abstract

Pelliccia A, Sharma S, Gati S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J. 2021 Jan 1;42(1):17-96.Full text  Abstract

Reference articles

1. Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2020 Dec 22;142(25):e558-631.Full text  Abstract

2. Elliott PM, Anastasakis A, Borger MA, et al; Authors/Task Force members. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014 Oct 14;35(39):2733-79.Full text  Abstract

3. Maron MS, Olivotto I, Betocchi S, et al. Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med. 2003 Jan 23;348(4):295-303.Full text  Abstract

4. Maron MS, Olivotto I, Zenovich AG, et al. Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation. 2006 Nov 21;114(21):2232-9.Full text  Abstract

5. Wigle ED, Rakowski H, Kimball BP, et al. Hypertrophic cardiomyopathy: clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92.Full text  Abstract

6. Yetman AT, Hamilton RM, Benson LN, et al. Long-term outcome and prognostic determinants in children with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1998 Dec;32(7):1943-50.Full text  Abstract

7. Maron BJ, Ommen SR, Semsarian C, et al. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol. 2014 Jul 8;64(1):83-99.Full text  Abstract

8. Adabag AS, Kuskowski MA, Maron BJ. Determinants for clinical diagnosis of hypertrophic cardiomyopathy. Am J Cardiol. 2006 Dec 1;98(11):1507-11. Abstract

9. Semsarian C, Ingles J, Maron MS, et al. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015 Mar 31;65(12):1249-54.Full text  Abstract

10. Maron BJ, Mathenge R, Casey SA, et al. Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities. J Am Coll Cardiol. 1999 May;33(6):1590-5.Full text  Abstract

11. Olivotto I, Maron MS, Adabag AS, et al. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2005 Aug 2;46(3):480-7.Full text  Abstract

12. Maron BJ, Bonow RO, Cannon RO, et al. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology and therapy (2). N Engl J Med. 1987 Apr 2;316(14):844-52. Abstract

13. Ho HH, Lee KL, Lau CP, et al. Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy. Am J Med. 2004 Jan 1;116(1):19-23. Abstract

14. Kitaoka H, Doi Y, Casey SA, et al. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am J Cardiol. 2003 Nov 15;92(10):1183-6. Abstract

15. Ashrafian H, Watkins H. Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications: cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol. 2007 Mar 27;49(12):1251-64.Full text  Abstract

16. Lind JM, Chiu C, Semsarian C. Genetic basis of hypertrophic cardiomyopathy. Expert Rev Cardiovasc Ther. 2006 Nov;4(6):927-34. Abstract

17. Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008 Jan;19(1):104-10.Full text  Abstract

18. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. [Erratum in: Circulation. 2004 Jun 29;109(25):3258.]Full text  Abstract

19. Van Driest SL, Ommen SR, Tajik AJ, et al. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc. 2005 Jun;80(6):739-44. Abstract

20. Yetman AT, Gow RM, Seib P, et al. Exercise capacity in children with hypertrophic cardiomyopathy and its relation to diastolic left ventricular function. Am J Cardiol. 2001 Feb 15;87(4):491-3;A8. Abstract

21. Robinson K, Frenneaux MP, Stockins B, et al. Atrial fibrillation in hypertrophic cardiomyopathy: a longitudinal study. J Am Coll Cardiol. 1990 May;15(6):1279-85.Full text  Abstract

22. Nagueh SF, Bierig SM, Budoff MJ, et al. American Society of Echocardiography clinical recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: endorsed by the American Society of Nuclear Cardiology, Society for Cardiovascular Magnetic Resonance, and Society of Cardiovascular Computed Tomography. J Am Soc Echocardiogr. 2011 May;24(5):473-98.Full text  Abstract

23. Ho CY, Sweitzer NK, McDonough B, et al. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 2002 Jun 25;105(25):2992-7.Full text  Abstract

24. O’Hanlon R, Assomull RG, Prasad SK. Use of cardiovascular magnetic resonance for diagnosis and management in hypertrophic cardiomyopathy. Curr Cardiol Rep. 2007 Mar;9(1):51-6. Abstract

25. Adabag AS, Maron BJ, Appelbaum E, et al. Occurrence and frequency of arrythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance. J Am Coll Cardiol. 2008 Apr 8;51(14):1369-74. Abstract

26. Fluechter S, Kuschyk J, Wolpert C, et al. Extent of late gadolinium enhancement detected by cardiovascular magnetic resonance correlates with the inducibility of ventricular tachyarrhythmia in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson. 2010 May 21;12:30.Full text  Abstract

27. Suk T, Edwards C, Hart H, et al. Myocardial scar detected by contrast-enhanced cardiac magnetic resonance imaging is associated with ventricular tachycardia in hypertrophic cardiomyopathy patients. Heart Lung Circ. 2008 Oct;17(5):370-4. Abstract

28. Leonardi S, Raineri C, De Ferrari GM, et al. Usefulness of cardiac magnetic resonance in assessing the risk of ventricular arrhythmias and sudden death in patients with hypertrophic cardiomyopathy. Eur Heart J. 2009 Aug;30(16):2003-10.Full text  Abstract

29. O'Hanlon R, Grasso A, Roughton M, et al. Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010 Sep 7;56(11):867-74.Full text  Abstract

30. Bruder O, Wagner A, Jensen CJ, et al. Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010 Sep 7;56(11):875-87.Full text  Abstract

31. Maron BJ, Spirito P, Shen WK, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA. 2007 Jul 25;298(4):405-12.Full text  Abstract

32. Goldberger JJ, Cain ME, Hohnloser SH, et al. American Heart Association/American College of Cardiology Foundation/Heart Rhythm Society scientific statement on noninvasive risk stratification techniques for identifying patients at risk for sudden cardiac death. J Am Coll Cardiol. 2008 Sep 30;52(14):1179-99.Full text  Abstract

33. Christiaans I, van Engelen K, van Langen IM, et al. Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers. Europace. 2010 Mar;12(3):313-21.Full text  Abstract

34. Lubarsky L, Gupta MP, Hecht HS. Evaluation of myocardial bridging of the left anterior descending coronary artery by 64-slice multidetector computed tomographic angiography. Am J Cardiol. 2007 Oct 1;100(7):1081-2. Abstract

35. Kantarci M, Doganay S, Karcaaltincaba M, et al. Clinical situations in which coronary CT angiography confers superior diagnostic information compared with coronary angiography. Diagn Interv Radiol. 2012 May-Jun;18(3):261-9.Full text  Abstract

36. Maron BJ, Casey SA, Chan RH, et al. Independent assessment of the European Society of Cardiology sudden death risk model for hypertrophic cardiomyopathy. Am J Cardiol. 2015 Sep 1;116(5):757-64. Abstract

37. O'Mahony C, Jichi F, Pavlou M, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014 Aug 7;35(30):2010-20.Full text  Abstract

38. Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation. 2010 Dec 7;122(23):2430-40.Full text  Abstract

39. Musunuru K, Hershberger RE, Day SM, et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020 Aug;13(4):e000067.Full text  Abstract

40. Christiaans I, Birnie E, van Langen IM, et al. The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. Eur Heart J. 2010 Apr;31(7):842-8.Full text  Abstract

41. Michels M, Soliman OI, Phefferkorn J, et al. Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J. 2009 Nov;30(21):2593-8.Full text  Abstract

42. Niimura H, Patton KK, McKenna WJ, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002 Jan 29;105(4):446-51.Full text  Abstract

43. Frenneaux MP. Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart. 2004 May;90(5):570-5.Full text  Abstract

44. Lawless CE, Best TM. Electrocardiograms in athletes: interpretation and diagnostic accuracy. Med Sci Sports Exerc. 2008 May;40(5):787-98. Abstract

45. Yetman AT, McCrindle BW. Management of pediatric hypertrophic cardiomyopathy. Curr Opin Cardiol. 2005 Mar;20(2):80-3. Abstract

46. Yetman AT, McCrindle BW, MacDonald C, et al. Myocardial bridging in children with hypertrophic cardiomyopathy - a risk factor for sudden death. N Engl J Med. 1998 Oct 22;339(17):1201-9.Full text  Abstract

47. Pelliccia A, Maron BJ. Outer limits of the athlete's heart, the effect of gender, and relevance to the differential diagnosis with primary cardiac diseases. Cardiol Clin. 1997 Aug;15(3):381-96. Abstract

48. Wynne J, Braunwald E. The cardiomyopathies and myocarditides. In: Braunwald E, Zipes DP, Libby P, eds. Heart disease: a textbook of cardiovascular medicine. 5th ed. Philadelphia, PA: WB Saunders; 1997.

49. The Cardiac Society of Australia and New Zealand. Diagnosis and management of hypertrophic cardiomyopathy - position statement. Nov 2016 [internet publication].Full text

50. Corrado D, Pelliccia A, Bjørnstad HH, et al. Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. Eur Heart J. 2005 Mar;26(5):516-24.Full text  Abstract

51. Donnelly DK, Howard TM. Electrocardiography and the preparticipation physical examination: is it time for routine screening? Curr Sports Med Rep. 2006 Apr;5(2):67-73. Abstract

52. Pelliccia A, Di Paolo FM, Corrado D, et al. Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes. Eur Heart J. 2006 Sep;27(18):2196-200.Full text  Abstract

53. Drezner JA, Sharma S, Baggish A, et al. International criteria for electrocardiographic interpretation in athletes: consensus statement. Br J Sports Med. 2017 May;51(9):704-31.Full text  Abstract

54. Wilson MG, Sharma S, Carré F, et al. Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum. Br J Sports Med. 2012 Nov;46(suppl 1):i51-8.Full text  Abstract

55. Madias JE. Electrocardiogram in apical hypertrophic cardiomyopathy with a speculation as to the mechanism of its features. Neth Heart J. 2013 Jun;21(6):268-71.Full text  Abstract

56. Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. Circulation. 2006 Jun 20;113(24):e858-62. Abstract

57. Fernández A, Quiroga A, Ochoa JP, et al. Validation of the 2014 European Society of Cardiology sudden cardiac death risk prediction model in hypertrophic cardiomyopathy in a reference center in South America. Am J Cardiol. 2016 Jul 1;118(1):121-6. Abstract

58. Nakagawa S, Okada A, Nishimura K, et al. Validation of the 2014 European Society of Cardiology sudden cardiac death risk prediction model among various phenotypes in Japanese patients with hypertrophic cardiomyopathy. Am J Cardiol. 2018 Dec 1;122(11):1939-46. Abstract

59. Klein GJ, Krahn AD, Skanes AC, et al. Primary prophylaxis of sudden death in hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and dilated cardiomyopathy. J Cardiovasc Electrophysiol. 2005 Sep;16(suppl 1):S28-34. Abstract

60. Epstein AE, DiMarco JP, Ellenbogen KA, et al. 2012 ACCF/AHA/HRS focused update incorporated into the ACCF/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities. Circulation. 2013 Jan 22;127(3):e283-352.Full text  Abstract

61. Schinkel AF, Vriesendorp PA, Sijbrands EJ, et al. Outcome and complications after implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy. Circ Heart Fail. 2012 Sep 1;5(5):552-9.Full text  Abstract

62. Glikson M, Nielsen JC, Kronborg MB, et al; ESC Scientific Document Group; ESC National Cardiac Societies. 2021 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy. Eur Heart J. 2021 Sep 14;42(35):3427-520.Full text  Abstract

63. Pelliccia A, Sharma S, Gati S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J. 2021 Jan 1;42(1):17-96.Full text  Abstract

64. Sherrid MV, Barac I, McKenna WJ, et al. Multicenter study of the efficacy and safety of disopyramide in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. 2005 Apr 19;45(8):1251-8.Full text  Abstract

65. Ramaraj R. Hypertrophic cardiomyopathy: etiology, diagnosis, and treatment. Cardiol Rev. 2008 Jul-Aug;16(4):172-80. Abstract

66. Panaich SS, Badheka AO, Chothani A, et al. Results of ventricular septal myectomy and hypertrophic cardiomyopathy (from Nationwide Inpatient Sample [1998-2010]). Am J Cardiol. 2014 Nov 1;114(9):1390-5. Abstract

67. Robbins RC, Stinson EB. Long-term results of left ventricular myotomy and myectomy for obstructive hypertrophic cardiomyopathy. J Thorac Cardiovasc Surg. 1996 Mar;111(3):586-94.Full text  Abstract

68. Zeng Z, Wang F, Dou X, et al. Comparison of percutaneous transluminal septal myocardial ablation versus septal myectomy for the treatment of patients with hypertrophic obstructive cardiomyopathy - a meta analysis. Int J Cardiol. 2006 Sep 10;112(1):80-4. Abstract

69. Alam M, Dokainish H, Lakkis N. Alcohol septal ablation for hypertrophic obstructive cardiomyopathy: a systematic review of published studies. J Interv Cardiol. 2006 Aug;19(4):319-27. Abstract

70. Agarwal S, Tuzcu EM, Desai MY, et al. Updated meta-analysis of septal alcohol ablation versus myectomy for hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;55:823-834.J Am Coll Cardiol. 2010 Feb 23;55(8):823-34.Full text  Abstract

71. Yancy CW, Jessup M, Bozkurt B, et al. 2017 ACC/AHA/HFSA focused update of the 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America. Circulation. 2017 Aug 8;136(6):e137-61.Full text  Abstract

72. Leonardi RA, Kransdorf EP, Simel DL, et al. Meta-analyses of septal reduction therapies for obstructive hypertrophic cardiomyopathy: comparative rates of overall mortality and sudden cardiac death after treatment. Circ Cardiovasc Interv. 2010 Apr;3(2):97-104.Full text  Abstract

73. Nishimura RA, Trusty JM, Hayes DL, et al. Dual-chamber pacing for hypertrophic cardiomyopathy: a randomized, double-blind, crossover trial. J Am Coll Cardiol. 1997 Feb;29(2):435-41.Full text  Abstract

74. Maron BJ, Nishimura RA, McKenna WJ, et al. Assessment of permanent dual-chamber pacing as a treatment for drug-refractory symptomatic patients with obstructive hypertrophic cardiomyopathy: a randomized, double-blind, crossover study (M-PATHY). Circulation. 1999 Jun 8;99(22):2927-33.Full text  Abstract

75. Ommen SR, Nishimura RA, Squires RW, et al. Comparison of dual-chamber pacing versus septal myectomy for the treatment of patients with hypertrophic obstructive cardiomyopathy: a comparison of objective hemodynamic and exercise end points. J Am Coll Cardiol. 1999 Jul;34(1):191-6.Full text  Abstract

76. Fiorani B, Capuano F, Bilotta F, et al. Myocardial bridging in hypertrophic cardiomyopathy: a plea for surgical correction. Ital Heart J. 2005 Nov;6(11):922-4. Abstract

77. Sorajja P, Ommen SR, Nishimura RA, et al. Myocardial bridging in adult patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2003 Sep 3;42(5):889-94.Full text  Abstract

78. Basso C, Thiene G, Mackey-Bojack S, et al. Myocardial bridging, a frequent component of the hypertrophic cardiomyopathy phenotype, lacks systematic association with sudden cardiac death. Eur Heart J. 2009 Jul;30(13):1627-34.Full text  Abstract

79. January CT, Wann LS, Alpert JS, et al. 2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol. 2014 Dec 2;64(21):e1-76.Full text  Abstract

80. Harris KM, Spirito P, Maron MS, et al. Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. Circulation. 2006 Jul 18;114(3):216-25.Full text  Abstract

81. Teekakirikul P, Eminaga S, Toka O, et al. Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta. J Clin Invest. 2010 Oct;120(10):3520-9.Full text  Abstract

82. Fatkin D, McConnell BK, Mudd JO, et al. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest. 2000 Dec;106(11):1351-9.Full text  Abstract

83. Olivotto I, Oreziak A, Barriales-Villa R, et al; EXPLORER-HCM study investigators. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2020 Sep 12;396(10253):759-69. Abstract

84. Spertus JA, Fine JT, Elliott P, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2021 Jun 26;397(10293):2467-75. Abstract

85. Maron BJ, Ackerman MJ, Nishimura RA, et al. Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol. 2005 Apr 19;45(8):1340-5.Full text  Abstract

86. Pelliccia A, Solberg EE, Papadakis M, et al. Recommendations for participation in competitive and leisure time sport in athletes with cardiomyopathies, myocarditis, and pericarditis: position statement of the Sport Cardiology Section of the European Association of Preventive Cardiology (EAPC). Eur Heart J. 2019 Jan 1;40(1):19-33.Full text  Abstract

87. Takagi E, Yamakado T, Nakano T, et al. Prognosis of completely asymptomatic adults with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1999 Jan;33(1):206-11.Full text  Abstract

88. Maron BJ, Casey SA, Poliac LC, et al. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA. 1999 Feb 17;281(7):650-5.Full text  Abstract

89. Xiao Y, Yang KQ, Yang YK, et al. Clinical characteristics and prognosis of end-stage hypertrophic cardiomyopathy. Chin Med J (Engl). 2015 Jun 5;128(11):1483-9.Full text  Abstract

90. Stergiopoulos K, Shiang E, Bench T. Pregnancy in patients with pre-existing cardiomyopathies. J Am Coll Cardiol. 2011 Jul 19;58(4):337-50.Full text  Abstract

91. Krul SP, van der Smagt JJ, van den Berg MP,et al. Systematic review of pregnancy in women with inherited cardiomyopathies. Eur J Heart Fail. 2011 Jun;13(6):584-94. Abstract

92. Maron BJ, Doerer JJ, Haas TS, et al. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation. 2009 Mar 3;119(8):1085-92.Full text  Abstract

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