肥厚型心肌病

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;107:2227-2232.

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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;105:2992-2997.

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Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124:e783-e831.

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Frenneaux MP. Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart. 2004;90:570-575.

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Alam M, Dokainish H, Lakkis N. Alcohol septal ablation for hypertrophic obstructive cardiomyopathy: a systematic review of published studies. J Interv Cardiol. 2006;19:319-327.

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1.  Maron BJ, Olivotto I, Maron MS. The dilemma of left ventricular outflow tract obstruction and sudden death in hypertrophic cardiomyopathy: do patients with gradients really deserve prophylactic defibrillators? Eur Heart J. 2006;27:1895-1897.

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2.  Wigle ED, Rakowski H, Kimball BP, et al. Hypertrophic cardiomyopathy: clinical spectrum and treatment. Circulation. 1995;92:1680-1692.

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3.  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.

4.  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.

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5.  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.

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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;32:1943-1950.

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7.  Adabag AS, Kuskowski MA, Maron BJ. Determinants for clinical diagnosis of hypertrophic cardiomyopathy. Am J Cardiol. 2006;98:1507-1511.

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8.  Maron BJ, Mathenge R, Casey SA, et al. Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities. J Am Coll Cardiol. 1999;33:1590-1595.

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9.  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.

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10.  Maron BJ, Bonow RO, Cannon RO, et al. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology and therapy (2). N Engl J Med. 1987;316:844-852.

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11.  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;116:19-23.

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12.  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;92:1183-1186.

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13.  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;49:1251-1264.

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14.  Lind JM, Chiu C, Semsarian C. Genetic basis of hypertrophic cardiomyopathy. Expert Rev Cardiovasc Ther. 2006;4:927-934.

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15.  Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008;19:104-110.

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16.  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;107:2227-2232.

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17.  Van Driest SL, Ommen SR, Tajik AJ, et al. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc. 2005;80:739-744.

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18.  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;87:491-493.

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19.  Robinson K, Frenneaux MP, Stockins B, et al. Atrial fibrillation in hypertrophic cardiomyopathy: a longitudinal study. J Am Coll Cardiol. 1990;15:1279-1285.

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20.  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;24:473-498.

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21.  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;105:2992-2997.

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22.  O’Hanlon R, Assomull RG, Prasad SK. Use of cardiovascular magnetic resonance for diagnosis and management in hypertrophic cardiomyopathy. Curr Cardiol Rep 2007;9:51-56.

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23.  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;51:1369-1374.

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24.  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;12:30.

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25.  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;17:370-374.

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26.  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;30:2003-2010.

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27.  O'Hanlon R, Grasso A, Roughton M, et al. Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56:867-874.

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28.  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;56:875-887.

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29.  Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124:e783-e831.

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30.  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.

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31.  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. Circulation. 2008;118:1497-1518.

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32.  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;12:313-321.

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33.  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;100:1081-1082.

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34.  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;18:261-269.

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35.  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;116:757-764.

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36.  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;45:1340-1345.

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37.  Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation. 2010;122:2430-2440.

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38.  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;31:842-848.

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39.  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;30:2593-2598.

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40.  Niimura H, Patton KK, McKenna WJ, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-451.

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41.  Frenneaux MP. Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart. 2004;90:570-575.

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42.  Lawless CE, Best TM. Electrocardiograms in athletes: interpretation and diagnostic accuracy. Med Sci Sports Exerc. 2008;40:787-798.

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43.  Yetman AT, McCrindle BW. Management of pediatric hypertrophic cardiomyopathy. Curr Opin Cardiol. 2005;20:80-83.

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44.  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;339:1201-1209.

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45.  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;15:381-396.

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46.  The Cardiac Society of Australia and New Zealand. Guidelines for the diagnosis and management of hypertrophic cardiomyopathy. November 2013. http://www.csanz.edu.au/ (last accessed 1 September 2016).

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47.  Corrado D, Pelliccia A, Bjornstad 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;26:516-524.

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

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49.  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;27:2196-2200.

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50.  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;46(suppl 1):i51-i58.

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51.  Madias JE. Electrocardiogram in apical hypertrophic cardiomyopathy with a speculation as to the mechanism of its features. Neth Heart J. 2013;21:268-271.

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52.  Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. Circulation. 2006;113:e858-e862.

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53.  O'Mahony C, Tome-Esteban M, Lambiase PD, et al. A validation study of the 2003 American College of Cardiology/European Society of Cardiology and 2011 American College of Cardiology Foundation/American Heart Association risk stratification and treatment algorithms for sudden cardiac death in patients with hypertrophic cardiomyopathy. Heart. 2013;99:534-541.

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54.  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;118:121-126.

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55.  Maron BJ, McKenna WJ, Danielson GK, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. Eur Heart J. 2003;24:1965-1991.

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56.  Pelliccia A, Corrado D, Bjørnstad HH, et al. Recommendations for participation in competitive sport and leisure-time physical activity in individuals with cardiomyopathies, myocarditis and pericarditis. Eur J Cardiovasc Prev Rehabil. 2006;13:876-885.

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57.  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;16(Suppl 1):S28-S34.

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58.  Epstein AE, DiMarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities. J Am Coll Cardiol. 2008;51:e1-e62.

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59.  Schinkel AF, Vriesendorp PA, Sijbrands EJ, et al. Outcome and complications after implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy. Circ Heart Fail. 2012;5:552-559.

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60.  Brignole M, Auricchio A, Baron-Esquivias G, et al; ESC Committee for Practice Guidelines (CPG). 2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy. Eur Heart J. 2013;34:2281-2329.

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61.  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;45:1251-1258.

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62.  Ramaraj R. Hypertrophic cardiomyopathy: etiology, diagnosis, and treatment. Cardiol Rev. 2008;16:172-180.

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63.  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.

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64.  Robbins RC, Stinson EB. Long-term results of left ventricular myotomy and myectomy for obstructive hypertrophic cardiomyopathy. J Thorac Cardiovasc Surg. 1996;111:586-594.

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65.  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;112:80-84.

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66.  Alam M, Dokainish H, Lakkis N. Alcohol septal ablation for hypertrophic obstructive cardiomyopathy: a systematic review of published studies. J Interv Cardiol. 2006;19:319-327.

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67.  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.

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68.  Yancy CW, Jessup M, Bozkurt B, et al; American College of Cardiology Foundation; American Heart Association Task Force on Practice Guidelines. 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol. 2013;62:e147-e239.

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69.  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;3:97-104.

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70.  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;29:435-441.

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71.  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;99:2927-2933.

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72.  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;34:191-196.

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73.  Fiorani B, Capuano F, Bilotta F, et al. Myocardial bridging in hypertrophic cardiomyopathy: a plea for surgical correction. Ital Heart J. 2005:6:922-924.

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74.  Sorajja P, Ommen SR, Nishimura RA, et al. Myocardial bridging in adult patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2003;42:889-894.

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75.  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;30:1627-1634.

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76.  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;64:e1-e76.

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77.  Fuster V, Ryden L, Cannom D, et al. ACC/AHA/ESC 2006 guidelines for the management of patients with atrial fibrillation - executive summary. J Am Coll Cardiol. 2006;48:854-906.

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78.  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;114:216-225.

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79.  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;120:3520-3529.

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80.  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;106:1351-1359.

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81.  Takagi E, Yamakado T, Nakano T, et al. Prognosis of completely asymptomatic adults with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1999;33:206-211.

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82.  Maron BJ, Casey SA, Poliac LC, et al. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA. 1999;281:650-655.

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83.  Stergiopoulos K, Shiang E, Bench T. Pregnancy in patients with pre-existing cardiomyopathies. J Am Coll Cardiol. 2011;58:337-350.

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84.  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;13:584-594.

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