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肥厚型心肌病的临床病程和治疗
Clinical Course and Management of Hypertrophic Cardiomyopathy


Barry J. Maron ... 心脑血管疾病 • 2018.08.16

肥厚型心肌病(HCM)是最常见的单基因心血管疾病,其表现和自然史多种多样,经常被误解,并且在临床实践中常常认识不足1-3。55年前,美国国立卫生研究院的Braunwald研究组首次对HCM进行了全面的临床描述;当时HCM被称为特发性肥厚性主动脉瓣下狭窄4。对各种HCM的诊断特征、遗传因素、临床病程和治疗的理解已经有了长足发展,特别是在过去的15年中1-3,5-10。已经出现了大量文献(超过18,000份报告),并且在许多方面,当代HCM与既往时代的HCM明显不同。





作者信息

Barry J. Maron, M.D.
From the Hypertrophic Cardiomyopathy Center and Research Institute, Tufts Medical Center, Boston. Address reprint requests to Dr. Maron at the HCM Institute, Tufts Medical Center, 800 Washington St., Box 70, Boston, MA 02111, or at barrymaron1@gmail.com.

 

参考文献

1. Maron BJ, Rowin EJ, Casey SA, Maron MS. How hypertrophic cardiomyopathy became a contemporary treatable genetic disease with low mortality: shaped by 50 years of clinical research and practice. JAMA Cardiol 2016;1:98-105.

2. Authors/Task Force members, Elliott PM, Anastasakis A, et al. 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;35:2733-2779.

3. Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol 2014;64:83-99.

4. Braunwald E, Lambrew CT, Rockoff SD, Ross J Jr, Morrow AG. Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based on an analysis of 64 patients. Circulation 1964;30:Suppl 4:3-119.

5. Cirino AL, Harris S, Lakdawala NK, et al. Role of genetic testing in inherited cardiovascular disease: a review. JAMA Cardiol 2017;2:1153-1160.

6. Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011;124:2761-2796.

7. Maron MS, Maron BJ. Clinical impact of contemporary cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy. Circulation 2015;132:292-298.

8. Maron BJ, Maron MS. The remarkable 50 years of imaging in HCM and how it has changed diagnosis and management: from M-mode echocardiography to CMR. JACC Cardiovasc Imaging 2016;9:858-872.

9. Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol 2015;65:1249-1254.

10. Maron MS, Hellawell JL, Lucove JC, Farzaneh-Far R, Olivotto I. Occurrence of clinically diagnosed hypertrophic cardiomyopathy in the United States. Am J Cardiol 2016;117:1651-1654.

11. Maron BJ, Rowin EJ, Maron MS. Global burden of hypertrophic cardiomyopathy. JACC Heart Fail 2018;6:376-378.

12. Wells S, Rowin EJ, Bhatt V, Maron MS, Maron BJ. Association between race and clinical profile of patients referred for hypertrophic cardiomyopathy. Circulation 2018;137:1973-1975.

13. Maron BJ. Importance and feasibility of creating hypertrophic cardiomyopathy centers in developing countries: the experience in India. Am J Cardiol 2015;116:332-334.

14. Tang B, Song Y, Cui H, et al. Prediction of mid-term outcomes in adult obstructive hypertrophic cardiomyopathy after surgical ventricular septum myectomy. J Am Coll Cardiol 2017;70:2092-2094.

15. Alfares AA, Kelly MA, McDermott G, et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med 2015;17:880-888.

16. Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and mechanistic insights into the genetics of cardiomyopathy. J Am Coll Cardiol 2016;68:2871-2886.

17. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.

18. Manrai AK, Funke BH, Rehm HL, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med 2016;375:655-665.

19. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012;60:705-715.

20. Biagini E, Olivotto I, Iascone M, et al. Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy. Am J Cardiol 2014;114:769-776.

21. Fourey D, Care M, Siminovitch KA, et al. Prevalence and clinical implication of double mutations in hypertrophic cardiomyopathy: revisiting the gene-dose effect. Circ Cardiovasc Genet 2017;10(2):e001685-e001685.

22. Jensen MK, Havndrup O, Christiansen M, et al. Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing. Circulation 2013;127:48-54.

23. Valente AM, Lakdawala NK, Powell AJ, et al. Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. Circ Cardiovasc Genet 2013;6:230-237.

24. Landry LG, Rehm HL. Association of racial/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy. JAMA Cardiol 2018;3:341-345.

25. Ingles J, Burns C, Bagnall RD, et al. Nonfamilial hypertrophic cardiomyopathy: prevalence, natural history, and clinical implications. Circ Cardiovasc Genet 2017;10:e001620-e001620.

26. Chan RH, Maron BJ, Olivotto I, et al. Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation 2014;130:484-495.

27. Weng Z, Yao J, Chan RH, et al. Prognostic value of LGE-CMR in HCM: a meta-analysis. JACC Cardiovasc Imaging 2016;9:1392-1402.

28. Spirito P, Bellone P, Harris KM, Bernabò P, Bruzzi P, Maron BJ. Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med 2000;342:1778-1785.

29. Klarich KW, Attenhofer Jost CH, Binder J, et al. Risk of death in long-term follow-up of patients with apical hypertrophic cardiomyopathy. Am J Cardiol 2013;111:1784-1791.

30. Maron MS, Olivotto I, Zenovich AG, et al. Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation 2006;114:2232-2239.

31. Sherrid MV, Balaram S, Kim B, Axel L, Swistel DG. The mitral valve in obstructive hypertrophic cardiomyopathy: a test in context. J Am Coll Cardiol 2016;67:1846-1858.

32. Maron BJ, Casey SA, Olivotto I, et al. Clinical course and quality of life in high-risk patients with hypertrophic cardiomyopathy and implantable cardioverter-defibrillators. Circ Arrhythm Electrophysiol 2018;11(4):e005820-e005820.

33. Rowin EJ, Maron MS, Chan RH, et al. Interaction of adverse disease-related pathways in hypertrophic cardiomyopathy. Am J Cardiol 2017;120:2256-2264.

34. Maron BJ, Shen W-K, Link MS, et al. Efficacy of implantable cardioverter–defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med 2000;342:365-373.

35. Schinkel AF, Vriesendorp PA, Sijbrands EJ, Jordaens LJ, ten Cate FJ, Michels M. Outcome and complications after implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy: systematic review and meta-analysis. Circ Heart Fail 2012;5:552-559.

36. Maron BJ, Maron MS. Contemporary strategies for risk stratification and prevention of sudden death with the implantable defibrillator in hypertrophic cardiomyopathy. Heart Rhythm 2016;13:1155-1165.

37. Vriesendorp PA, Schinkel AF, Van Cleemput J, et al. Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: patient outcomes, rate of appropriate and inappropriate interventions, and complications. Am Heart J 2013;166:496-502.

38. Maron BJ, Spirito P, Shen WK, et al. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007;298:405-412.

39. Maron BJ, Rowin EJ, Casey SA, et al. Hypertrophic cardiomyopathy in adulthood associated with low cardiovascular mortality with contemporary management strategies. J Am Coll Cardiol 2015;65:1915-1928.

40. Maron BJ, Rowin EJ, Casey SA, et al. Hypertrophic cardiomyopathy in children, adolescents, and young adults associated with low cardiovascular mortality with contemporary management strategies. Circulation 2016;133:62-73.

41. Maron BJ, Spirito P, Ackerman MJ, et al. Prevention of sudden cardiac death with implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy. J Am Coll Cardiol 2013;61:1527-1535.

42. Rowin EJ, Maron BJ, Haas TS, et al. Hypertrophic cardiomyopathy with left ventricular apical aneurysm: implications for risk stratification and management. J Am Coll Cardiol 2017;69:761-773.

43. Maron BJ, Udelson JE, Bonow RO, et al. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 3: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and myocarditis: a scientific statement from the American Heart Association and American College of Cardiology. J Am Coll Cardiol 2015;66:2362-2371.

44. Maron MS, Rowin EJ, Olivotto I, et al. Contemporary natural history and management of nonobstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 2016;67:1399-1409.

45. Galati G, Leone O, Pasquale F, et al. Histological and histometric characterization of myocardial fibrosis in end-stage hypertrophic cardiomyopathy: a clinical-pathological study of 30 explanted hearts. Circ Heart Fail 2016;9(9):e003090-e003090.

46. Ho CY, López B, Coelho-Filho OR, et al. Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. N Engl J Med 2010;363:552-563.

47. Maron BJ, Nishimura RA, Maron MS. Shared decision-making in HCM. Nat Rev Cardiol 2017;14:125-126.

48. Maron BJ, Rowin EJ, Casey SA, et al. Risk stratification and outcome of patients with hypertrophic cardiomyopathy ≥60 years of age. Circulation 2013;127:585-593.

49. Spirito P, Autore C, Formisano F, et al. Risk of sudden death and outcome in patients with hypertrophic cardiomyopathy with benign presentation and without risk factors. Am J Cardiol 2014;113:1550-1555.

50. O’Mahony C, Jichi F, Ommen SR, et al. International external validation study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM). Circulation 2018;137:1015-1023.

51. Maron BJ, Casey SA, Chan RH, Garberich RF, Rowin EJ, Maron MS. Independent assessment of the European Society of Cardiology sudden death risk model for hypertrophic cardiomyopathy. Am J Cardiol 2015;116:757-764.

52. Leong KMW, Chow JJ, Ng FS, et al. Comparison of the prognostic usefulness of the European Society of Cardiology and American Heart Association/American College of Cardiology Foundation risk stratification systems for patients with hypertrophic cardiomyopathy. Am J Cardiol 2018;121:349-355.

53. Maron BJ. Saving lives one at a time. JAMA Cardiol 2016;1:387-388.

54. Weinstock J, Bader YH, Maron MS, Rowin EJ, Link MS. Subcutaneous implantable cardioverter defibrillator in patients with hypertrophic cardiomyopathy: an initial experience. J Am Heart Assoc 2016;5(2):e002488-e002488.

55. Maron BJ, Rowin EJ, Udelson JE, Maron MS. Clinical spectrum and management of heart failure in hypertrophic cardiomyopathy. JACC Heart Fail 2018;6:353-363.

56. Geske JB, Ong KC, Siontis KC, et al. Women with hypertrophic cardiomyopathy have worse survival. Eur Heart J 2017;38:3434-3440.

57. 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;46:480-487.

58. 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;348:295-303.

59. Covella M, Rowin EJ, Hill NS, et al. Mechanism of progressive heart failure and significance of pulmonary hypertension in obstructive hypertrophic cardiomyopathy. Circ Heart Fail 2017;10(4):e003689-e003689.

60. Sherrid MV, Shetty A, Winson G, et al. Treatment of obstructive hypertrophic cardiomyopathy symptoms and gradient resistant to first-line therapy with β-blockade or verapamil. Circ Heart Fail 2013;6:694-702.

61. Maron MS, Chan RH, Kapur N, et al. Effect of spironolactone on myocardial fibrosis and other clinical variables in patients with hypertrophic cardiomyopathy. Am J Med 2018;131:837-841.

62. Axelsson A, Iversen K, Vejlstrup N, et al. Efficacy and safety of the angiotensin II receptor blocker losartan for hypertrophic cardiomyopathy: the INHERIT randomised, double-blind, placebo-controlled trial. Lancet Diabetes Endocrinol 2015;3:123-131.

63. Smedira NG, Lytle BW, Lever HM, et al. Current effectiveness and risks of isolated septal myectomy for hypertrophic obstructive cardiomyopathy. Ann Thorac Surg 2008;85:127-133.

64. Ball W, Ivanov J, Rakowski H, et al. Long-term survival in patients with resting obstructive hypertrophic cardiomyopathy comparison of conservative versus invasive treatment. J Am Coll Cardiol 2011;58:2313-2321.

65. Maron BJ, Dearani JA, Ommen SR, et al. Low operative mortality achieved with surgical septal myectomy: role of dedicated hypertrophic cardiomyopathy centers in the management of dynamic subaortic obstruction. J Am Coll Cardiol 2015;66:1307-1308.

66. Ommen SR, Maron BJ, Olivotto I, et al. Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 2005;46:470-476.

67. Kotkar KD, Said SM, Dearani JA, Schaff HV. Hypertrophic obstructive cardiomyopathy: the Mayo Clinic experience. Ann Cardiothorac Surg 2017;6:329-336.

68. Rastegar H, Boll G, Rowin EJ, et al. Results of surgical septal myectomy for obstructive hypertrophic cardiomyopathy: the Tufts experience. Ann Cardiothorac Surg 2017;6:353-363.

69. Ferrazzi P, Spirito P, Iacovoni A, et al. Transaortic chordal cutting: mitral valve repair for obstructive hypertrophic cardiomyopathy with mild septal hypertrophy. J Am Coll Cardiol 2015;66:1687-1696.

70. Vriesendorp PA, Liebregts M, Steggerda RC, et al. Long-term outcomes after medical and invasive treatment in patients with hypertrophic cardiomyopathy. JACC Heart Fail 2014;2:630-636.

71. Desai MY, Bhonsale A, Smedira NG, et al. Predictors of long-term outcomes in symptomatic hypertrophic obstructive cardiomyopathy patients undergoing surgical relief of left ventricular outflow tract obstruction. Circulation 2013;128:209-216.

72. Geske JB, Konecny T, Ommen SR, et al. Surgical myectomy improves pulmonary hypertension in obstructive hypertrophic cardiomyopathy. Eur Heart J 2014;35:2032-2039.

73. Balaram SK, Ross RE, Sherrid MV, et al. Role of mitral valve plication in the surgical management of hypertrophic cardiomyopathy. Ann Thorac Surg 2012;94:1990-1997.

74. Rowin EJ, Maron BJ, Olivotto I, Maron MS. Role of exercise testing in hypertrophic cardiomyopathy. JACC Cardiovasc Imaging 2017;10:1374-1386.

75. Messmer BJ. Extended myectomy for hypertrophic obstructive cardiomyopathy. Ann Thorac Surg 1994;58:575-5777.

76. 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;114:1390-1395.

77. Wells S, Rowin EJ, Boll G, et al. Clinical profile of nonresponders to surgical myectomy with obstructive hypertrophic cardiomyopathy. Am J Med 2018;131:e235-e239.

78. Iacovoni A, Spirito P, Simon C, et al. A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy. Eur Heart J 2012;33:2080-2087.

79. Sorajja P. Alcohol septal ablation for obstructive hypertrophic cardiomyopathy: a word of balance. J Am Coll Cardiol 2017;70:489-494.

80. ten Cate FJ, Soliman OI, Michels M, et al. Long-term outcome of alcohol septal ablation in patients with obstructive hypertrophic cardiomyopathy: a word of caution. Circ Heart Fail 2010;3:362-369.

81. Noseworthy PA, Rosenberg MA, Fifer MA, et al. Ventricular arrhythmia following alcohol septal ablation for obstructive hypertrophic cardiomyopathy. Am J Cardiol 2009;104:128-132.

82. Veselka J, Faber L, Liebregts M, et al. Outcome of alcohol septal ablation in mildly symptomatic patients with hypertrophic obstructive cardiomyopathy: a long-term follow-up study based on the Euro-Alcohol Septal Ablation Registry. J Am Heart Assoc 2017;6(5):e005735-e005735.

83. Geske JB, Sorajja P, Nishimura RA, Ommen SR. Evaluation of left ventricular filling pressures by Doppler echocardiography in patients with hypertrophic cardiomyopathy: correlation with direct left atrial pressure measurement at cardiac catheterization. Circulation 2007;116:2702-2708.

84. Maron MS, Kalsmith BM, Udelson JE, Li W, DeNofrio D. Survival after cardiac transplantation in patients with hypertrophic cardiomyopathy. Circ Heart Fail 2010;3:574-579.

85. Rowin EJ, Maron BJ, Abt P, et al. Impact of advanced therapies in improving survival to heart transplant in patients with hypertrophic cardiomyopathy. Am J Cardiol 2018;121:986-996.

86. Rowin EJ, Maron BJ, Kiernan MS, et al. Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: under-recognized subset of candidates for heart transplant. Circ Heart Fail 2014;7:967-975.

87. Olivotto I, Maron BJ, Appelbaum E, et al. Spectrum and clinical significance of systolic function and myocardial fibrosis assessed by cardiovascular magnetic resonance in hypertrophic cardiomyopathy. Am J Cardiol 2010;106:261-267.

88. Pasqualucci D, Fornaro A, Castelli G, et al. Clinical spectrum, therapeutic options, and outcome of advanced heart failure in hypertrophic cardiomyopathy. Circ Heart Fail 2015;8:1014-1021.

89. Cappelli F, Morini S, Pieragnoli P, et al. Cardiac resynchronization therapy for end-stage hypertrophic cardiomyopathy: the need for disease-specific criteria. J Am Coll Cardiol 2018;71:464-466.

90. Rowin EJ, Hausvater A, Link MS, et al. Clinical profile and consequences of atrial fibrillation in hypertrophic cardiomyopathy. Circulation 2017;136:2420-2436.

91. Siontis KC, Geske JB, Ong K, Nishimura RA, Ommen SR, Gersh BJ. Atrial fibrillation in hypertrophic cardiomyopathy: prevalence, clinical correlations, and mortality in a large high-risk population. J Am Heart Assoc 2014;3(3):e001002-e001002.

92. Kidia KK. Disheartening disparities. N Engl J Med 2016;374:909-911.

93. Spirito P. The dawn of a better day for patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2015;65:1929-1930.

94. Maron BJ, Maron MS, Rowin EJ. Perspectives on the overall risks of living with hypertrophic cardiomyopathy. Circulation 2017;135:2317-2319.

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