Skip to main content
SpringerLink
Log in

Hypertrophic Cardiomyopathy

  • Chapter
  • First Online:
Book cover Clinical Echocardiography

  • 3202 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557–67.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  10. Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet. 2004;363:1881–91.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  13. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348(26):2656–68.

    Article  PubMed  CAS  Google Scholar 

  14. Goodwin JF. ?IHSS. ?HOCM. ?ASH. a plea for unity. Am Heart J. 1975;89(3):269–77.

    Article  PubMed  CAS  Google Scholar 

  15. Maron BJ, Epstein SE. Hypertrophic cardiomyopathy: a discussion of nomenclature. Am J Cardiol. 1979;43(6):1242–4.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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. Shah PM, Gramiak R, Kramer DH. Ultrasound localization of left ventricular outflow obstruction in hypertrophic obstructive cardiomyopathy. Circulation. 1969;40(1):3–11.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  34. Rodger JC. Motion of mitral apparatus in hypertrophic cardiomyopathy with obstruction. Br Heart J. 1976;38(7):732–7.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  37. Tajik AJ, Giuliani ER. Echocardiographic observations in idiopathic hypertrophic subaortic stenosis. Mayo Clin Proc. 1974;49(2):89–97.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  53. Ashrafian H, Mason MJ, Mitchell AG. Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing. Europace. 2007;9(1):50–4.

    Article  PubMed  Google Scholar 

  54. Sigwart U. Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. Lancet. 1995;346(8969):211–4.

    Article  PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Public Health and Clinical Medical and Heart Center, Umea University, Umea, Sweden

    Michael Y. Henein

  2. Royal Brompton Hospital, London, UK

    Mary Sheppard & John R. Pepper

Authors
  1. Michael Y. Henein
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mary Sheppard
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. John R. Pepper
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michael Y. Henein .

Editor information

Editors and Affiliations

  1. Thorney Crescent 27, Battersea, London, SW11 3TT, United Kingdom

    Michael Y. Henein

Electronic Supplementary material

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

Parasternal long axis views from a patient with HCM showing asymmetrical hypertrophy

Video 2.avi (2,373 KB)

Parasternal views from an HCM patient showing functional unitral regurgitation

Video 3.avi (1,731 KB)

Video 10.2

Parasternal long axis views from a patient with HCM showing asymmetrical hypertrophy

Video 2.avi (2,373 KB)

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer-Verlag London Limited

About this chapter

Cite this chapter

Henein, M.Y., Sheppard, M., Pepper, J.R. (2012). Hypertrophic Cardiomyopathy. In: Henein, M. (eds) Clinical Echocardiography. Springer, London. https://doi.org/10.1007/978-1-84882-521-5_10

Download citation

  • DOI: https://doi.org/10.1007/978-1-84882-521-5_10

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84882-520-8

  • Online ISBN: 978-1-84882-521-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation