(Circulation. 1995;91:532-540.)
© 1995 American Heart Association, Inc.
Articles |
Molecular Basis of Familial Cardiomyopathies
From the Unité de Recherches (K.S., L.C., P.G.), 153 de l'INSERM, and the Service de Cardiologie (M.K.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Correspondence to Ketty Schwartz, PhD, INSERM UR 153, Pavillon Rambuteau Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
Key Words: hypertrophy • cardiomyopathy • genes
 |
Introduction |
|---|
Cardiomyopathies represent a variety of cardiac diseases that are an important cause of morbidity and mortality throughout the world in children and adults and whose definition and classification have evolved since the middle of this century. Currently, they are defined as "heart muscle diseases of unknown etiology" and are classified as dilated, hypertrophic, or restrictive, depending on the type of functional impairment.1 The dilated forms (dilated cardiomyopathy, DCM) are the most common variety. They are characterized by a marked ventricular dilation, poor systolic function, the development of progressive refractory congestive heart failure, and a poor prognosis. Their prevalence in the US population is estimated to be 36.5 per 100 000 persons.2 The hypertrophic forms (hypertrophic cardiomyopathy, HCM) are defined by the presence of unexplained left ventricular hypertrophy that is usually predominant in the interventricular septum and may or may not be associated with right ventricular hypertrophy. Cellular disorganization (myocardial disarray) is present in most patients in the interventricular septum as well as in the free wall. The disease is associated with diastolic dysfunction, myocardial ischemia, and life-threatening arrhythmias, and patients are prone to sudden death. The prevalence of HCM is reported to be 17.9 per 100 000 persons.2 Restrictive cardiomyopathy is extremely rare in western countries.
Although apparently clear, this clinical classification presents
major limitations: specific cardiac diseases such as hypertension or
ischemic heart disease, as well as general disorders with cardiac
involvement, can mimic the clinical presentation of idiopathic
cardiomyopathies. Moreover, an overlap exists between these categories.
For instance,
This article has been cited by other articles:
 |
|
 |
|
  A. Bye, M. Langaas, M. A. Hoydal, O. J. Kemi, G. Heinrich, L. G. Koch, S. L. Britton, S. M. Najjar, O. Ellingsen, and U. Wisloff Aerobic capacity-dependent differences in cardiac gene expression Physiol Genomics, October 8, 2008; 33(1): 100 - 109. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. S. Adabag, S. A. Casey, M. A. Kuskowski, A. G. Zenovich, and B. J. Maron Spectrum and prognostic significance of arrhythmias on ambulatory Holter electrocardiogram in hypertrophic cardiomyopathy J. Am. Coll. Cardiol., March 1, 2005; 45(5): 697 - 704. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, J.G. Seidman, and C. E. Seidman Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 7, 2004; 44(11): 2125 - 2132. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Gilbert-Barness Metabolic Cardiomyopathy and Conduction System Defects in Children Ann. Clin. Lab. Sci., January 1, 2004; 34(1): 15 - 34. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Kulikovskaya, G. McClellan, J. Flavigny, L. Carrier, and S. Winegrad Effect of MyBP-C Binding to Actin on Contractility in Heart Muscle J. Gen. Physiol., November 24, 2003; 122(6): 761 - 774. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, W. J. McKenna, G. K. Danielson, L. J. Kappenberger, H. J. Kuhn, C. E. Seidman, P. M. Shah, W. H. Spencer III, P. Spirito, F. J. Ten Cate, 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., November 5, 2003; 42(9): 1687 - 1713. [Full Text] [PDF]
|
|
|
|
 |
|
 Writing Committee Members, B. J. Maron, W. J. McKenna, G. K. Danielson, L. J. Kappenberger, H. J. Kuhn, C. E. Seidman, P. M. Shah, W. H. Spencer III, P. Spirito, 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 Eur. Heart J., November 1, 2003; 24(21): 1965 - 1991. [Full Text] [PDF]
|
|
|
|
 |
|
 M. Garcia-Castro, J. R. Reguero, A. Batalla, B. Diaz-Molina, P. Gonzalez, V. Alvarez, A. Cortina, G. I. Cubero, and E. Coto Hypertrophic Cardiomyopathy: Low Frequency of Mutations in the {beta}-Myosin Heavy Chain (MYH7) and Cardiac Troponin T (TNNT2) Genes among Spanish Patients Clin. Chem., August 1, 2003; 49(8): 1279 - 1285. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, K. P. Carney, H. M. Lever, J. F. Lewis, I. Barac, S. A. Casey, and M. V. Sherrid Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., March 19, 2003; 41(6): 974 - 980. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. J. M. Kofflard, F. J. Ten Cate, C. van der Lee, and R. T. van Domburg Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration J. Am. Coll. Cardiol., March 19, 2003; 41(6): 987 - 993. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Boutin-Ganache, S. Picard, and C. F. Deschepper Distinct gene-sex interactions regulate adult rat cardiomyocyte width and length independently Physiol Genomics, December 26, 2002; 12(1): 61 - 67. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Seidman Genetic Causes of Inherited Cardiac Hypertrophy: Robert L. Frye Lecture Mayo Clin. Proc., December 1, 2002; 77(12): 1315 - 1319. [Abstract] [PDF]
|
|
|
|
|
|
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]
|
|
|
|
 |
|
 B Swynghedauw and D Charlemagne What is wrong with positive inotropic drugs? Lessons from basic science and clinical trials Eur. Heart J. Suppl., April 1, 2002; 4(suppl_D): D43 - D49. [Abstract] [PDF]
|
|
|
|
 |
|
 B. J. Maron Hypertrophic Cardiomyopathy: A Systematic Review JAMA, March 13, 2002; 287(10): 1308 - 1320. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, H. Niimura, S. A. Casey, M. K. Soper, G. B. Wright, J. G. Seidman, and C. E. Seidman Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations J. Am. Coll. Cardiol., August 1, 2001; 38(2): 315 - 321. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Karibe, L. S. Tobacman, J. Strand, C. Butters, N. Back, L. L. Bachinski, A. E. Arai, A. Ortiz, R. Roberts, E. Homsher, et al. Hypertrophic Cardiomyopathy Caused by a Novel {{alpha}}-Tropomyosin Mutation (V95A) Is Associated With Mild Cardiac Phenotype, Abnormal Calcium Binding to Troponin, Abnormal Myosin Cycling, and Poor Prognosis Circulation, January 2, 2001; 103(1): 65 - 71. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. MOOLMAN-SMOOK, W. DE LANGE, V. CORFIELD, and P. BRINK Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation J. Med. Genet., December 1, 2000; 37(12): 951 - 956. [Full Text]
|
|
|
|
 |
|
 A M Varnava, P M Elliott, S Sharma, W J McKenna, and M J Davies Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease Heart, November 1, 2000; 84(5): 476 - 482. [Abstract] [Full Text]
|
|
|
|
|
|
H. Kokado, M. Shimizu, H. Yoshio, H. Ino, K. Okeie, Y. Emoto, T. Matsuyama, M. Yamaguchi, T. Yasuda, N. Fujino, et al. Clinical Features of Hypertrophic Cardiomyopathy Caused by a Lys183 Deletion Mutation in the Cardiac Troponin I Gene Circulation, August 8, 2000; 102(6): 663 - 669. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 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]
|
|
|
|
|
|
J. Shirani, R. Pick, W. C. Roberts, and B. J. Maron Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death J. Am. Coll. Cardiol., January 1, 2000; 35(1): 36 - 44. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A Muraishi, H Kai, K Adachi, H Nishi, and T Imaizumi Malalignment of the sarcomeric filaments in hypertrophic cardiomyopathy with cardiac myosin heavy chain gene mutation Heart, November 1, 1999; 82(5): 625 - 629. [Abstract] [Full Text]
|
|
|
|
|
|
M. D. Kittleson, K. M. Meurs, M. J. Munro, J. A. Kittleson, S.-K. Liu, P. D. Pion, and J. A. Towbin Familial Hypertrophic Cardiomyopathy in Maine Coon Cats : An Animal Model of Human Disease Circulation, June 22, 1999; 99(24): 3172 - 3180. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Olivotto, B. J. Maron, A. Montereggi, F. Mazzuoli, A. Dolara, and F. Cecchi Prognostic value of systemic blood pressure response during exercise in a community-based patient population with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., June 1, 1999; 33(7): 2044 - 2051. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S.-J. Kim, K. Iizuka, R. A. Kelly, Y.-J. Geng, S. P. Bishop, G. Yang, A. Kudej, B. K. McConnell, C. E. Seidman, J. G. Seidman, et al. An alpha -cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes Am J Physiol Heart Circ Physiol, May 1, 1999; 276(5): H1780 - H1787. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. G. Priori, J. Barhanin, R. N. W. Hauer, W. Haverkamp, H. J. Jongsma, A. G. Kleber, W. J. McKenna, D. M. Roden, Y. Rudy, K. Schwartz, et al. Genetic and Molecular Basis of Cardiac Arrhythmias: Impact on Clinical Management Parts I and II Circulation, February 2, 1999; 99(4): 518 - 528. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S.G. Priori, J. Barhanin, R.N.W. Hauer, W. Haverkamp, H.J. Jongsma, A.G. Kleber, W.J. McKenna, D.M. Roden, Y. Rudy, K. Schwartz, et al. Genetic and molecular basis of cardiac arrhythmias: Impact on clinical management Eur. Heart J., February 1, 1999; 20(3): 174 - 195. [PDF]
|
|
|
|
|
|
S. D. Nelson, E. A. Sparks, H. L. Graber, H. Boudoulas, A. A. Mehdirad, P. Baker, and C. Wooley Clinical characteristics of sudden death victims in heritable (chromosome 1p1-1q1) conduction and myocardial disease J. Am. Coll. Cardiol., November 15, 1998; 32(6): 1717 - 1723. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, J. H. Moller, C. E. Seidman, G. M. Vincent, H. C. Dietz, A. J. Moss, J. A. Towbin, H. M. Sondheimer, R. E. Pyeritz, G. McGee, et al. Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases: Hypertrophic Cardiomyopathy, Long-QT Syndrome, and Marfan Syndrome : A Statement for Healthcare Professionals From the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association Circulation, October 6, 1998; 98(14): 1460 - 1471. [Full Text] [PDF]
|
|
|
|
|
|
P. Charron, O. Dubourg, M. Desnos, M. Bennaceur, L. Carrier, A.-C. Camproux, R. Isnard, A. Hagege, J. M. Langlard, G. Bonne, et al. Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C Gene Circulation, June 9, 1998; 97(22): 2230 - 2236. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Fougerousse, A.-L. Delezoide, M. Y. Fiszman, K. Schwartz, J. S. Beckmann, and L. Carrier Cardiac Myosin Binding Protein C Gene Is Specifically Expressed in Heart During Murine and Human Development Circ. Res., January 23, 1998; 82(1): 130 - 133. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Spirito, C. E. Seidman, W. J. McKenna, and B. J. Maron The Management of Hypertrophic Cardiomyopathy N. Engl. J. Med., March 13, 1997; 336(11): 775 - 785. [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Ohya, I. Abe, K. Fujii, K. Kobayashi, U. Onaka, and M. Fujishima Intima-Media Thickness of the Carotid Artery in Hypertensive Subjects and Hypertrophic Cardiomyopathy Patients Hypertension, January 1, 1997; 29(1): 361 - 365. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J.-F. Forissier, L. Carrier, H. Farza, G. Bonne, J. Bercovici, P. Richard, B. Hainque, P. J. Townsend, M. H. Yacoub, S. Faure, et al. Codon 102 of the Cardiac Troponin T Gene Is a Putative Hot Spot for Mutations in Familial Hypertrophic Cardiomyopathy Circulation, December 15, 1996; 94(12): 3069 - 3073. [Abstract] [Full Text]
|
|
|
|
|
|
M. L. Schwartz, G. F. Cox, A. E. Lin, M. S. Korson, A. Perez-Atayde, R. V. Lacro, and S. E. Lipshultz Clinical Approach to Genetic Cardiomyopathy in Children Circulation, October 15, 1996; 94(8): 2021 - 2038. [Abstract] [Full Text]
|
|
|
|
|
|
K. Lindpaintner, M. Lee, M. G. Larson, V. S. Rao, M. A. Pfeffer, J. M. Ordovas, E. J. Schaefer, A. F. Wilson, P. W.F. Wilson, R. S. Vasan, et al. Absence of Association or Genetic Linkage between the Angiotensin-Converting-Enzyme Gene and Left Ventricular Mass N. Engl. J. Med., April 18, 1996; 334(16): 1023 - 1028. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Schwartz Familial Hypertrophic Cardiomyopathy : Nonsense Versus Missense Mutations Circulation, June 15, 1995; 91(12): 2865 - 2867. [Full Text]
|
|