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(Circulation. 1995;92:1680-1692.)
© 1995 American Heart Association, Inc.


Articles

Hypertrophic Cardiomyopathy

Clinical Spectrum and Treatment

E. Douglas Wigle, MD; Harry Rakowski, MD; Brian P. Kimball, MD; William G. Williams, MD

From the Divisions of Cardiology and Cardiovascular Surgery and the Center for Cardiovascular Research, the Toronto Hospital, General Division, University of Toronto, Ontario, Canada.


Key Words: cardiomyopathy • cardiovascular diseases • myocardium • physiology • ventricles


*    Introduction
 
Although the pathology of HCM was described by two French pathologists in the mid 19th century1 2 and by a German pathologist in the early 20th century,3 it remained for the virtually simultaneous reports of Brock4 and Teare,5 some 37 years ago, to bring modern attention to this fascinating entity. Subsequent to these surgical4 and pathological5 observations, there has been an almost exponential growth in the number of research reports and in our knowledge of HCM, and a number of extensive reviews have been published.6 7 8 9 10 11 The growth in our knowledge of HCM parallels the development of various investigative techniques available to cardiology. Thus, the 1960s and 1970s were the clinical,12 13 14 15 16 hemodynamic,17 18 19 20 21 22 23 24 25 26 27 28 29 and angiographic30 31 32 33 era that focused mainly on obstructive HCM. The 1970s through the 1990s saw the various imaging modalities (echo-Doppler,34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 nuclear,49 50 51 52 53 54 magnetic resonance,55 56 57 58 and positron emission tomography59 60 ) enhance our understanding of the systolic and diastolic abnormalities as well as the significance of myocardial ischemia in HCM. At the same time, electrophysiological techniques defined the spectrum of atrial and ventricular arrhythmias that are such an important feature of this disease.61 62 63 64 65

More recently, the results of molecular genetic studies have resulted in a quantum leap in our basic knowledge and understanding of the mendelian dominant inheritance of HCM and have far-reaching prognostic and clinical implications.66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 HCM is now described as a heterogeneous disease of the sarcomere,77 78 in that at least 34 missense mutations have been described in the ß-myosin heavy chain gene (chromosome 14q11-q12),66 67 68 69 70 71 72 75 76 7 mutations have been described in cardiac . . . [Full Text of this Article]




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H. Izawa, M. Iwase, Y. Takeichi, F. Somura, K. Nagata, T. Nishizawa, A. Noda, T. Murohara, and M. Yokota
Effect of Nicorandil on Left Ventricular End-Diastolic Pressure During Exercise in Patients with Hypertrophic Cardiomyopathy
Eur. Heart J., July 2, 2003; 24(14): 1340 - 1348.
[Abstract] [Full Text] [PDF]


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CirculationHome page
B. J. Maron, N. A. M. Estes III, M. S. Maron, A. K. Almquist, M. S. Link, and J. E. Udelson
Primary Prevention of Sudden Death as a Novel Treatment Strategy in Hypertrophic Cardiomyopathy
Circulation, June 17, 2003; 107(23): 2872 - 2875.
[Full Text] [PDF]


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JNMHome page
P. Sipola, E. Vanninen, H. J. Aronen, K. Lauerma, S. Simula, P. Jaaskelainen, M. Laakso, K. Peuhkurinen, J. Kuusisto, and J. T. Kuikka
Cardiac Adrenergic Activity Is Associated with Left Ventricular Hypertrophy in Genetically Homogeneous Subjects with Hypertrophic Cardiomyopathy
J. Nucl. Med., April 1, 2003; 44(4): 487 - 493.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
T. Konno, M. Shimizu, H. Ino, T. Matsuyama, M. Yamaguchi, H. Terai, K. Hayashi, T. Mabuchi, M. Kiyama, K. Sakata, et al.
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients
J. Am. Coll. Cardiol., March 5, 2003; 41(5): 781 - 786.
[Abstract] [Full Text] [PDF]


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Ann. Thorac. Surg.Home page
M. V. Sherrid, F. A. Chaudhry, and D. G. Swistel
Obstructive hypertrophic cardiomyopathy: echocardiography, pathophysiology, and the continuing evolution of surgery for obstruction
Ann. Thorac. Surg., February 1, 2003; 75(2): 620 - 632.
[Abstract] [Full Text] [PDF]


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NEJMHome page
M. S. Maron, I. Olivotto, S. Betocchi, S. A. Casey, J. R. Lesser, M. A. Losi, F. Cecchi, and B. J. Maron
Effect of Left Ventricular Outflow Tract Obstruction on Clinical Outcome in Hypertrophic Cardiomyopathy
N. Engl. J. Med., January 23, 2003; 348(4): 295 - 303.
[Abstract] [Full Text] [PDF]


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Mayo Clin Proc.Home page
C. Seidman
Genetic Causes of Inherited Cardiac Hypertrophy: Robert L. Frye Lecture
Mayo Clin. Proc., December 1, 2002; 77(12): 1315 - 1319.
[Abstract] [PDF]


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J Am Coll CardiolHome page
C. Autore, M. R. Conte, M. Piccininno, P. Bernabo, G. Bonfiglio, P. Bruzzi, and P. Spirito
Risk associated with pregnancy in hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., November 20, 2002; 40(10): 1864 - 1869.
[Abstract] [Full Text] [PDF]


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J. Med. Genet.Home page
P Charron, D Heron, M Gargiulo, P Richard, O Dubourg, M Desnos, J-B Bouhour, J Feingold, L Carrier, B Hainque, et al.
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience
J. Med. Genet., October 1, 2002; 39(10): 741 - 746.
[Abstract] [Full Text] [PDF]


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CirculationHome page
E. Braunwald, C. E. Seidman, and U. Sigwart
Contemporary Evaluation and Management of Hypertrophic Cardiomyopathy
Circulation, September 10, 2002; 106(11): 1312 - 1316.
[Full Text] [PDF]


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CirculationHome page
F. H. Gietzen, C. J. Leuner, L. Obergassel, C. Strunk-Mueller, and H. Kuhn
Role of Transcoronary Ablation of Septal Hypertrophy in Patients With Hypertrophic Cardiomyopathy, New York Heart Association Functional Class III or IV, and Outflow Obstruction Only Under Provocable Conditions
Circulation, July 23, 2002; 106(4): 454 - 459.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
Q. Ciampi, S. Betocchi, R. Lombardi, F. Manganelli, G. Storto, M. A. Losi, E. Pezzella, F. Finizio, A. Cuocolo, and M. Chiariello
Hemodynamic determinants of exercise-induced abnormal blood pressure response in hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., July 17, 2002; 40(2): 278 - 284.
[Abstract] [Full Text] [PDF]


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Physiol. GenomicsHome page
J.-J. Hwang, P. D. Allen, G. C. Tseng, C.-W. Lam, L. Fananapazir, V. J. Dzau, and C.-C. Liew
Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure
Physiol Genomics, July 12, 2002; 10(1): 31 - 44.
[Abstract] [Full Text] [PDF]


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JAMAHome page
B. J. Maron
Hypertrophic Cardiomyopathy: A Systematic Review
JAMA, March 13, 2002; 287(10): 1308 - 1320.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
B. J. Maron, I. Olivotto, P. Bellone, M. R. Conte, F. Cecchi, B. P. Flygenring, S. A. Casey, T. E. Gohman, S. Bongioanni, and P. Spirito
Clinical profile of stroke in 900 patients with hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., January 16, 2002; 39(2): 301 - 307.
[Abstract] [Full Text] [PDF]


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Cold Spring Harb Symp Quant BiolHome page
A. MAASS, J.P. KONHILAS, B.L. STAUFFER, and L.A. LEINWAND
From Sarcomeric Mutations to Heart Disease: Understanding Familial Hypertrophic Cardiomyopathy
Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 409 - 416.
[Abstract] [PDF]


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J Am Coll CardiolHome page
J. Xin, T. Shiota, H. M. Lever, S. R. Kapadia, M. Sitges, D. N. Rubin, F. Bauer, N. L. Greenberg, D. A. Agler, J. K. Drinko, et al.
Outcome of patients with hypertrophic obstructive cardiomyopathy after percutaneous transluminal septal myocardial ablation and septal myectomy surgery
J. Am. Coll. Cardiol., December 1, 2001; 38(7): 1994 - 2000.
[Abstract] [Full Text] [PDF]


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HeartHome page
E D. Wigle
CARDIOMYOPATHY: The diagnosis of hypertrophic cardiomyopathy
Heart, December 1, 2001; 86(6): 709 - 714.
[Full Text] [PDF]


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J. Med. Genet.Home page
P. S. Andersen, O. Havndrup, H. Bundgaard, J. C. Moolman-Smook, L. A. Larsen, J. Mogensen, P. A. Brink, A. D. Borglum, V. A. Corfield, K. Kjeldsen, et al.
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
J. Med. Genet., December 1, 2001; 38 (12): e43 - e43.
[Full Text] [PDF]


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HypertensionHome page
J. Deinum, J. M.G. van Gool, M. J.M. Kofflard, F. J. ten Cate, and A.H. J. Danser
Angiotensin II Type 2 Receptors and Cardiac Hypertrophy in Women With Hypertrophic Cardiomyopathy
Hypertension, December 1, 2001; 38(6): 1278 - 1281.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
E. D. Wigle, L. Schwartz, A. Woo, and H. Rakowski
To ablate or operate? that is the question!
J. Am. Coll. Cardiol., November 15, 2001; 38(6): 1707 - 1710.
[Full Text] [PDF]


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J Am Coll CardiolHome page
D.-S. Lim, R. Roberts, and A. J. Marian
Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes
J. Am. Coll. Cardiol., October 1, 2001; 38(4): 1175 - 1180.
[Abstract] [Full Text] [PDF]


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Eur Heart J SupplHome page
U. Sigwart
Non-surgical myocardial reduction for patients with hypertrophic obstructive cardiomyopathy
Eur. Heart J. Suppl., October 1, 2001; 3(suppl_L): L38 - L42.
[Abstract] [PDF]


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CirculationHome page
F. Somura, H. Izawa, M. Iwase, Y. Takeichi, R. Ishiki, T. Nishizawa, A. Noda, K. Nagata, Y. Yamada, and M. Yokota
Reduced Myocardial Sarcoplasmic Reticulum Ca2+-ATPase mRNA Expression and Biphasic Force-Frequency Relations in Patients With Hypertrophic Cardiomyopathy
Circulation, August 7, 2001; 104(6): 658 - 663.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
Y. Takeichi, M. Yokota, M. Iwase, H. Izawa, T. Nishizawa, R. Ishiki, F. Somura, K. Nagata, S. Isobe, and A. Noda
Biphasic changes in left ventricular end-diastolic pressure during dynamic exercise in patients with nonobstructive hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., August 1, 2001; 38(2): 335 - 343.
[Abstract] [Full Text] [PDF]


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CirculationHome page
S. F. Nagueh, S. J. Stetson, N. M. Lakkis, D. Killip, A. Perez-Verdia, M. L. Entman, W. H. Spencer III, and G. Torre-Amione
Decreased Expression of Tumor Necrosis Factor-{{alpha}} and Regression of Hypertrophy After Nonsurgical Septal Reduction Therapy for Patients With Hypertrophic Obstructive Cardiomyopathy
Circulation, April 10, 2001; 103(14): 1844 - 1850.
[Abstract] [Full Text] [PDF]


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CirculationHome page
W. Mazur, S. F. Nagueh, N. M. Lakkis, K. J. Middleton, D. Killip, R. Roberts, and W. H. Spencer III
Regression of Left Ventricular Hypertrophy After Nonsurgical Septal Reduction Therapy for Hypertrophic Obstructive Cardiomyopathy
Circulation, March 20, 2001; 103(11): 1492 - 1496.
[Abstract] [Full Text] [PDF]


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NEJMHome page
M. Kamisago, S. D. Sharma, S. R. DePalma, S. Solomon, P. Sharma, B. McDonough, L. Smoot, M. P. Mullen, P. K. Woolf, E. D. Wigle, et al.
Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy
N. Engl. J. Med., December 7, 2000; 343(23): 1688 - 1696.
[Abstract] [Full Text] [PDF]


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Eur Heart JHome page
B.J. Maron
Hypertrophic cardiomyopathy and sudden death: new perspectives on risk stratification and prevention with the implantable cardioverter-defibrillator
Eur. Heart J., December 2, 2000; 21(24): 1979 - 1983.
[PDF]


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J Am Coll CardiolHome page
E. H. C. Yu, A. S. Omran, E. D. Wigle, W. G. Williams, S. C. Siu, and H. Rakowski
Mitral regurgitation in hypertrophic obstructive cardiomyopathy: relationship to obstruction and relief with myectomy
J. Am. Coll. Cardiol., December 1, 2000; 36(7): 2219 - 2225.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
M. V. Sherrid, D. Z. Gunsburg, S. Moldenhauer, and G. Pearle
Systolic anterior motion begins at low left ventricular outflow tract velocity in obstructive hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., October 1, 2000; 36(4): 1344 - 1354.
[Abstract] [Full Text] [PDF]


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CirculationHome page
B. J. Maron, I. Olivotto, P. Spirito, S. A. Casey, P. Bellone, T. E. Gohman, K. J. Graham, D. A. Burton, and F. Cecchi
Epidemiology of Hypertrophic Cardiomyopathy-Related Death : Revisited in a Large Non-Referral-Based Patient Population
Circulation, August 22, 2000; 102(8): 858 - 864.
[Abstract] [Full Text] [PDF]


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CirculationHome page
W. H. Spencer III and R. Roberts
Alcohol Septal Ablation in Hypertrophic Obstructive Cardiomyopathy : The Need for a Registry
Circulation, August 8, 2000; 102(6): 600 - 601.
[Full Text] [PDF]


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NEJMHome page
P. Spirito, P. Bellone, K. M. Harris, P. Bernabo, P. Bruzzi, and B. J. Maron
Magnitude of Left Ventricular Hypertrophy and Risk of Sudden Death in Hypertrophic Cardiomyopathy
N. Engl. J. Med., June 15, 2000; 342(24): 1778 - 1785.
[Abstract] [Full Text] [PDF]


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J Am Coll CardiolHome page
S.-T. Li, C. J. Tack, L. Fananapazir, and D. S. Goldstein
Myocardial perfusion and sympathetic innervation in patients with hypertrophic cardiomyopathy
J. Am. Coll. Cardiol., June 1, 2000; 35(7): 1867 - 1873.
[Abstract] [Full Text] [PDF]