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Hypertrophic Cardiomyopathy

  • Michael Y. HeneinEmail author
  • Mary Sheppard
  • John R. Pepper
Chapter

Abstract

Hypertrophic cardiomyopathy (HCM) is a primary cardiac muscle disorder with unique pathophysiology, heterogeneous expression, and diverse clinical presentations. It is probably the most common genetically transmitted heart disease. HCM is often familial, of autosomal dominant transmission, and has a high degree of variable clinical penetrance. The latter is age related with typical features developing during adolescence. Approximately 50–70% of patients present mutations in one of the genes that encode different components of the cardiac sarcomere.

Keywords

Mitral Valve Mitral Regurgitation Outflow Tract Hypertrophic Cardiomyopathy Left Ventricular Outflow Tract 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Video 10.1

Parasternal long axis views form a patient with HCM showing concentric hypertrophy

Video 1.avi (11,961 KB)

76621_2_En_10_MOESM2_ESM.mpg (2.3 mb)
Video 10.2 Parasternal long axis views from a patient with HCM showing asymmetrical hypertrophy Video 2.avi (2,373 KB)
Video 10.3

Parasternal views from an HCM patient showing functional unitral regurgitation

Video 3.avi (1,731 KB)

References

  1. 1.
    Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557–67.PubMedCrossRefGoogle Scholar
  2. 2.
    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;107:2227–32.PubMedCrossRefGoogle Scholar
  3. 3.
    Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989;321(20):1372–8.PubMedCrossRefGoogle Scholar
  4. 4.
    Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, Hiller G, Jarcho JA, Morton CC, et al. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet. 1990;47(3):389–94.PubMedGoogle Scholar
  5. 5.
    Solomon SD, Jarcho JA, McKenna W, Geisterfer-Lowrance A, Germain R, Salerni R, et al. Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J Clin Invest. 1990;86(3):993–9.PubMedCrossRefGoogle Scholar
  6. 6.
    Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62(5):999–1006.PubMedCrossRefGoogle Scholar
  7. 7.
    Epstein ND, Fananapazir L, Lin HJ, Mulvihill J, White R, Lalouel JM, et al. Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. Circulation. 1992;85(2):635–47.PubMedGoogle Scholar
  8. 8.
    Solomon SD, Wolff S, Watkins H, Ridker PM, Come P, McKenna WJ, et al. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol. 1993;22(2):498–505.PubMedCrossRefGoogle Scholar
  9. 9.
    Maron BJ, McKenna WJ, Danielson GK, Task Force on Clinical Expert Consensus Documents. American College of Cardiologi, Committee for Practice Guidelines. European Society of Cardiology, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol. 2003;42(9):1687–713.PubMedCrossRefGoogle Scholar
  10. 10.
    Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet. 2004;363:1881–91.PubMedCrossRefGoogle Scholar
  11. 11.
    Sanbe A, Nelson D, Gulick J, et al. In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy. Circ Res. 2000;87:296–302.PubMedGoogle Scholar
  12. 12.
    Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105(12):1407–11.PubMedCrossRefGoogle Scholar
  13. 13.
    DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348(26):2656–68.PubMedCrossRefGoogle Scholar
  14. 14.
    Goodwin JF. ?IHSS. ?HOCM. ?ASH. a plea for unity. Am Heart J. 1975;89(3):269–77.PubMedCrossRefGoogle Scholar
  15. 15.
    Maron BJ, Epstein SE. Hypertrophic cardiomyopathy: a discussion of nomenclature. Am J Cardiol. 1979;43(6):1242–4.PubMedCrossRefGoogle Scholar
  16. 16.
    Matsumura Y, Elliott PM, Virdee MS, et al. Left ventricular ­diastolic function assessed using Doppler tissue imaging in patients with hypertrophic cardiomyopathy: relation to symptoms and exercise capacity. Heart. 2002;87(3):247–51.PubMedCrossRefGoogle Scholar
  17. 17.
    Maron BJ, Tholakanahalli VN, Zenovich AG, et al. Usefulness of B-type natriuretic peptide assay in the assessment of symptomatic state in hypertrophic cardiomyopathy. Circulation. 2004;109(8):984–9.PubMedCrossRefGoogle Scholar
  18. 18.
    Ikeda H, Maki S, Yoshida N, et al. Predictors of death from congestive heart failure in hypertrophic cardiomyopathy. Am J Cardiol. 1999;83(8):1280–3, A9.PubMedCrossRefGoogle Scholar
  19. 19.
    Prasad K, Williams L, Campbell R, Elliott PM, McKenna WJ, Frenneaux M. Episodic syncope in hypertrophic cardiomyopathy: evidence for inappropriate vasodilation. Heart. 2008;94(10):1312–7.PubMedCrossRefGoogle Scholar
  20. 20.
    Paz R, Jortner R, Tunick PA, et al. The effect of the ingestion of ethanol on obstruction of the left ventricular outflow tract in hypertrophic cardiomyopathy. N Engl J Med. 1996;335:938–41.PubMedCrossRefGoogle Scholar
  21. 21.
    Maron BJ, Gottdiener JS, Bonow RO, Epstein SE. Hypertrophic cardiomyopathy with unusual locations of left ventricular hypertrophy undetectable by M-mode echocardiography. Identification by wide-angle two-dimensional echocardiography. Circulation. 1981;63(2):409–18.PubMedCrossRefGoogle Scholar
  22. 22.
    Shapiro LM, McKenna WJ. Distribution of left ventricular ­hypertrophy in hypertrophic cardiomyopathy: a two-dimensional echocardiographic study. J Am Coll Cardiol. 1983;2(3):437–44.PubMedCrossRefGoogle Scholar
  23. 23.
    Henry WL, Clark CE, Epstein SE. Asymmetric septal hypertrophy. Echocardiographic identification of the pathognomonic anatomic abnormality of IHSS. Circulation. 1973;47(2):225–33.PubMedGoogle Scholar
  24. 24.
    Henry WL, Clark CE, Epstein SE. Asymmetric septal hypertrophy (ASH): the unifying link in the IHSS disease spectrum. Observations regarding its pathogenesis, pathophysiology, and course. Circulation. 1973;47(4):827–32.PubMedGoogle Scholar
  25. 25.
    Wigle ED, Sasson Z, Henderson MA, Ruddy TD, Fulop J, Rakowski H, et al. Hypertrophic cardiomyopathy. The importance of the site and the extent of hypertrophy. A review. Prog Cardiovasc Dis. 1985;28(1):1–83.PubMedCrossRefGoogle Scholar
  26. 26.
    Wigle ED, Adelman AG, Silver MD. Pathophysiological consideration in muscular subaortic stenosis. In: Wolstenholme GEW, editor. Hypertrophic obstructive cardiomyopathy, Ciba Foundation Study Group 47. London: Churchill; 1971.Google Scholar
  27. 27.
    Shah PM, Gramiak R, Kramer DH. Ultrasound localization of left ventricular outflow obstruction in hypertrophic obstructive cardiomyopathy. Circulation. 1969;40(1):3–11.PubMedGoogle Scholar
  28. 28.
    Maron BJ, Gottdiener JS, Arce J, Rosing DR, Wesley YE, Epstein SE. Dynamic subaortic obstruction in hypertrophic cardiomyopathy: analysis by pulsed Doppler echocardiography. J Am Coll Cardiol. 1985;6(1):1–18.PubMedCrossRefGoogle Scholar
  29. 29.
    Wigle ED, Henderson M, Rakowski H, Wilansky S. Muscular (hypertrophic) subaortic stenosis (hypertrophic obstructive cardiomyopathy): the evidence for true obstruction to left ventricular outflow. Postgrad Med J. 1986;62(728):531–6.PubMedCrossRefGoogle Scholar
  30. 30.
    Yamaguchi H, Ishimura T, Nishiyama S, Nagasaki F, Nakanishi S, Takatsu F, et al. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol. 1979;44(3):401–12.PubMedCrossRefGoogle Scholar
  31. 31.
    Pellikka PA, Oh JK, Bailey KR, Nichols BA, Monahan KH, Tajik AJ. Dynamic intraventricular obstruction during dobutamine stress echocardiography. A new observation. Circulation. 1992;86(5):1429–32.PubMedGoogle Scholar
  32. 32.
    Maron BJ, Gottdiener JS, Epstein SE. Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic ­cardiomyopathy. A wide angle, two dimensional echocardiographic study of 125 patients. Am J Cardiol. 1981;48(3):418–28.PubMedCrossRefGoogle Scholar
  33. 33.
    McIntosh CL, Maron BJ, Cannon III RO, Klues HG. Initial results of combined anterior mitral leaflet plication and ventricular septal myotomy-myectomy for relief of left ventricular outflow tract obstruction in patients with hypertrophic cardiomyopathy. Circulation. 1992;86(5 Suppl):II60–7.PubMedGoogle Scholar
  34. 34.
    Rodger JC. Motion of mitral apparatus in hypertrophic cardiomyopathy with obstruction. Br Heart J. 1976;38(7):732–7.PubMedCrossRefGoogle Scholar
  35. 35.
    Spirito P, Maron BJ, Bonow RO, Epstein SE. Severe functional limitation in patients with hypertrophic cardiomyopathy and only mild localized left ventricular hypertrophy. J Am Coll Cardiol. 1986;8(3):537–44.PubMedCrossRefGoogle Scholar
  36. 36.
    Rossen RM, Goodman DJ, Ingham RE, Popp RL. Ventricular systolic septal thickening and excursion in idiopathic hypertrophic subaortic stenosis. N Engl J Med. 1974;291(25):1317–9.PubMedCrossRefGoogle Scholar
  37. 37.
    Tajik AJ, Giuliani ER. Echocardiographic observations in idiopathic hypertrophic subaortic stenosis. Mayo Clin Proc. 1974;49(2):89–97.PubMedGoogle Scholar
  38. 38.
    Kinoshita N, Nimura Y, Okamoto M, Miyatake K, Nagata S, Sakakibara H. Mitral regurgitation in hypertrophic cardiomyopathy. Non-invasive study by two dimensional Doppler echocardiography. Br Heart J. 1983;49(6):574–83.PubMedCrossRefGoogle Scholar
  39. 39.
    Spirito P, Maron BJ. Relation between extent of left ventricular hypertrophy and diastolic filling abnormalities in hypertrophic cardiomyopathy. J Am Coll Cardiol. 1990;15(4):808–13.PubMedCrossRefGoogle Scholar
  40. 40.
    Nihoyannopoulos P, Karatasakis G, Frenneaux M, McKenna WJ, Oakley CM. Diastolic function in hypertrophic cardiomyopathy: relation to exercise capacity. J Am Coll Cardiol. 1992;19(3):536–40.PubMedCrossRefGoogle Scholar
  41. 41.
    Nakamura T, Matsubara K, Furukawa K, Azuma A, Sugihara H, Katsume H, et al. Diastolic paradoxic jet flow in patients with hypertrophic cardiomyopathy: evidence of concealed apical asynergy with cavity obliteration. J Am Coll Cardiol. 1992;19(3):516–24.PubMedCrossRefGoogle Scholar
  42. 42.
    Sutton MG, Tajik AJ, Smith HC, Ritman EL. Angina in idiopathic hypertrophic subaortic stenosis. A clinical correlate of regional left ventricular dysfunction: a videometric and echocardiographic study. Circulation. 1980;61(3):561–8.PubMedGoogle Scholar
  43. 43.
    Henein MY, O’Sullivan C, Sutton GC, Gibson DG, Coats AJ. Stress-induced left ventricular outflow tract obstruction: a potential cause of dyspnea in the elderly. J Am Coll Cardiol. 1997;30(5):1301–7.PubMedCrossRefGoogle Scholar
  44. 44.
    Al Nasser F, Duncan A, Sharma R, O’Sullivan C, Coats AJ, Anker SD, et al. Beta-blocker therapy for dynamic left-ventricular outflow tract obstruction. Int J Cardiol. 2002;86(2–3):199–205.CrossRefGoogle Scholar
  45. 45.
    Spirito P, Maron BJ, Bonow RO, Epstein SE. Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy. Am J Cardiol. 1987;60(1):123–9.PubMedCrossRefGoogle Scholar
  46. 46.
    Grigg LE, Wigle ED, Williams WG, Daniel LB, Rakowski H. Transesophageal Doppler echocardiography in obstructive hypertrophic cardiomyopathy: clarification of pathophysiology and importance in intraoperative decision making. J Am Coll Cardiol. 1992;20(1):42–52.PubMedCrossRefGoogle Scholar
  47. 47.
    Petrone RK, Klues HG, Panza JA, Peterson EE, Maron BJ. Coexistence of mitral valve prolapse in a consecutive group of 528 patients with hypertrophic cardiomyopathy assessed with ­echocardiography. J Am Coll Cardiol. 1992;20(1):55–61.PubMedCrossRefGoogle Scholar
  48. 48.
    Zhu WX, Oh JK, Kopecky SL, Schaff HV, Tajik AJ. Mitral ­regurgitation due to ruptured chordae tendineae in patients with hypertrophic obstructive cardiomyopathy. J Am Coll Cardiol. 1992;20(1):242–7.PubMedCrossRefGoogle Scholar
  49. 49.
    Kaltenbach M, Hopf R, Kober G, Bussmann WD, Keller M, Petersen Y. Treatment of hypertrophic obstructive cardiomyopathy with verapamil. Br Heart J. 1979;42(1):35–42.PubMedCrossRefGoogle Scholar
  50. 50.
    Rosing DR, Kent KM, Maron BJ, et al. Verapamil therapy: a new approach to the pharmacologic treatment of hypertrophic ­cardiomyopathy. II. Effects on exercise capacity and symptomatic status. Circulation. 1979;60(6):1208–13.PubMedGoogle Scholar
  51. 51.
    Fananapazir L, Cannon III RO, Tripodi D, Panza JA. Impact of dual-chamber permanent pacing in patients with obstructive hypertrophic cardiomyopathy with symptoms refractory to verapamil and beta-adrenergic blocker therapy. Circulation. 1992;85(6):2149–61.PubMedGoogle Scholar
  52. 52.
    Rogers DP, Marazia S, Chow AW, Lambiase PD, et al. Effect of biventricular pacing on symptoms and cardiac remodelling in patients with end stage hypertrophic cardiomyopathy. Eur J Heart Fail. 2008;10(5):507–13.PubMedCrossRefGoogle Scholar
  53. 53.
    Ashrafian H, Mason MJ, Mitchell AG. Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing. Europace. 2007;9(1):50–4.PubMedCrossRefGoogle Scholar
  54. 54.
    Sigwart U. Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. Lancet. 1995;346(8969):211–4.PubMedCrossRefGoogle Scholar
  55. 55.
    Knight C, Kurbaan AS, Seggewiss H, Henein M, Gunning M, Harrington D, et al. Nonsurgical septal reduction for hypertrophic obstructive cardiomyopathy: outcome in the first series of patients. Circulation. 1997;95(8):2075–81.PubMedGoogle Scholar
  56. 56.
    Faber L, Seggewiss H, Gleichmann U. Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: results with respect to intraprocedural myocardial contrast echocardiography. Circulation. 1998;98(22):2415–21.PubMedGoogle Scholar
  57. 57.
    Henein MY, O’Sullivan CA, Ramzy IS, Sigwart U, Gibson DG. Electromechanical left ventricular behavior after nonsurgical septal reduction in patients with hypertrophic obstructive cardiomyopathy. J Am Coll Cardiol. 1999;34(4):1117–22.PubMedCrossRefGoogle Scholar
  58. 58.
    Faber L, Meissner A, Ziemssen P, Seggewiss H. Percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopathy: long term follow up of the first series of 25 patients. Heart. 2000;83(3):326–31.PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London Limited 2012

Authors and Affiliations

  • Michael Y. Henein
    • 1
    Email author
  • Mary Sheppard
    • 2
  • John R. Pepper
    • 2
  1. 1.Department of Public Health and Clinical Medical and Heart CenterUmea UniversityUmeaSweden
  2. 2.Royal Brompton HospitalLondonUK

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