on April 21, 2003
Circulation. 2003
Published online before print April 21, 2003, doi: 10.1161/01.CIR.0000066323.15244.54
Published online before print April 21, 2003, doi: 10.1161/01.CIR.0000066323.15244.54
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Submitted on December 9, 2002
From the UF Cardio-Myogénétique, Service de Biochimie (P.R., C.L., T.C., C.P., B.H.), the Département de Génétique (P.C.), INSERM U582 (P.R., L.C., K.S., B.H.), and Institut de Cardiologie (P.C., A.B., R.I., M.K.), Hôpital de la Salpêtrière, Paris, France; the Service de Cardiologie, Hôpital Ambroise Paré, Boulogne, France (O.D.); the Service de Cardiologie, Nantes, France (M.B., J.-P.G.); the Service de Cardiologie, Lilles, France (A.M.); and Service de Cardiologie, Hôpital Européen Georges Pompidou, Paris, France (M.D.). P.R., P.C., C.L., T.C., C.P., A.B., R.I., B.H., and M.K. are members of Assistance Publique, Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière; P.R., P.C., L.C., C.L., T.C., C.P., A.B., R.I., K.S., B.H., and M.K. are members of Institut Fédératif de Recherche 14 "C * To whom correspondence should be addressed. E-mail: pascale.richard{at}psl.ap-hop-paris.fr.
Background--Hypertrophic cardiomyopathy is an autosomal-dominant disorder in which 10 genes and numerous mutations have been reported. The aim of the present study was to perform a systematic screening of these genes in a large population, to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice. Methods and Results--The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, and TNNC1) were analyzed in 197 unrelated index cases with familial or sporadic hypertrophic cardiomyopathy. Disease-causing mutations were identified in 124 index patients ( Conclusion--These results might have implications for genetic diagnosis strategy and, subsequently, for genetic counseling. First, on the basis of this experience, the screening of already known mutations is not helpful. The analysis should start by testing MYBPC3 and MYH7 and then focus on TNNI3, TNNT2, and MYL2. Second, in particularly severe phenotypes, several mutations should be searched. Finally, sporadic cases can be successfully screened.
Revised on February 12, 2003
Accepted on February 18, 2003
Hypertrophic Cardiomyopathy. Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy
Pascale Richard PhD*, 
ur, Muscle, Vaisseaux," Groupe Hospitalier Pitié-Salpêtrière, France.
63%), and 97 different mutations, including 60 novel ones, were identified. The cardiac myosin-binding protein C (MYBPC3) and 
-myosin heavy chain (MYH7) genes accounted for 82% of families with identified mutations (42% and 40%, respectively). Distribution of the genes varied according to the prognosis (P=0.036). Moreover, a mutation was found in 15 of 25 index cases with "sporadic" hypertrophic cardiomyopathy (60%). Finally, 6 families had patients with more than one mutation, and phenotype analyses suggested a gene dose effect in these compound-heterozygous, double-heterozygous, or homozygous patients.
Key words: hypertrophy • cardiomyopathy • genetics • prognosis
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E. Carniel, M. R.G. Taylor, G. Sinagra, A. Di Lenarda, L. Ku, P. R. Fain, M. M. Boucek, J. Cavanaugh, S. Miocic, D. Slavov, et al. {alpha}-Myosin Heavy Chain: A Sarcomeric Gene Associated With Dilated and Hypertrophic Phenotypes of Cardiomyopathy Circulation, July 5, 2005; 112(1): 54 - 59. [Abstract] [Full Text] [PDF]
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S. L. Van Driest, S. R. Ommen, A. J. Tajik, B. J. Gersh, and M. J. Ackerman Yield of Genetic Testing in Hypertrophic Cardiomyopathy Mayo Clin. Proc., June 1, 2005; 80(6): 739 - 744. [Abstract] [PDF]
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C. Grey, A. Mery, and M. Puceat Fine-tuning in Ca2+ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells Hum. Mol. Genet., May 15, 2005; 14(10): 1367 - 1377. [Abstract] [Full Text] [PDF]
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E. Villard, L. Duboscq-Bidot, P. Charron, A. Benaiche, V. Conraads, N. Sylvius, and M. Komajda Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene Eur. Heart J., April 2, 2005; 26(8): 794 - 803. [Abstract] [Full Text] [PDF]
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H.-P. Vosberg The ubiquitin-proteasome system may be involved in the pathogenesis of hypertrophic cardiomyopathy Cardiovasc Res, April 1, 2005; 66(1): 1 - 3. [Full Text] [PDF]
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A. Sarikas, L. Carrier, C. Schenke, D. Doll, J. Flavigny, K. S. Lindenberg, T. Eschenhagen, and O. Zolk Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants Cardiovasc Res, April 1, 2005; 66(1): 33 - 44. [Abstract] [Full Text] [PDF]
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S. L. Van Driest, S. R. Ommen, A. J. Tajik, B. J. Gersh, and M. J. Ackerman Sarcomeric Genotyping in Hypertrophic Cardiomyopathy Mayo Clin. Proc., April 1, 2005; 80(4): 463 - 469. [Abstract] [PDF]
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N. R. Alpert, S. A. Mohiddin, D. Tripodi, J. Jacobson-Hatzell, K. Vaughn-Whitley, C. Brosseau, D. M. Warshaw, and L. Fananapazir Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations Am J Physiol Heart Circ Physiol, March 1, 2005; 288(3): H1097 - H1102. [Abstract] [Full Text] [PDF]
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T. P. V. Manh, M. Mokrane, E. Georgenthum, J. Flavigny, L. Carrier, M. Semeriva, M. Piovant, and L. Roder Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies Hum. Mol. Genet., January 1, 2005; 14(1): 7 - 17. [Abstract] [Full Text] [PDF]
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J. Mogensen, R. T. Murphy, T. Kubo, A. Bahl, J. C. Moon, I. C. Klausen, P. M. Elliott, and W. J. McKenna Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 21, 2004; 44(12): 2315 - 2325. [Abstract] [Full Text] [PDF]
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C. A. MacRae and P. T. Ellinor Genetic screening and risk assessment in hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 21, 2004; 44(12): 2326 - 2328. [Full Text] [PDF]
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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]
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S. L. Van Driest, V. C. Vasile, S. R. Ommen, M. L. Will, A. J. Tajik, B. J. Gersh, and M. J. Ackerman Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy J. Am. Coll. Cardiol., November 2, 2004; 44(9): 1903 - 1910. [Abstract] [Full Text] [PDF]
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S. P. Harris, E. Rostkova, M. Gautel, and R. L. Moss Binding of Myosin Binding Protein-C to Myosin Subfragment S2 Affects Contractility Independent of a Tether Mechanism Circ. Res., October 29, 2004; 95(9): 930 - 936. [Abstract] [Full Text] [PDF]
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A. H. Maass, K. Ikeda, S. Oberdorf-Maass, S. K.G. Maier, and L. A. Leinwand Hypertrophy, Fibrosis, and Sudden Cardiac Death in Response to Pathological Stimuli in Mice With Mutations in Cardiac Troponin T Circulation, October 12, 2004; 110(15): 2102 - 2109. [Abstract] [Full Text] [PDF]
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S. L. Van Driest, M. A. Jaeger, S. R. Ommen, M. L. Will, B. J. Gersh, A. J. Tajik, and M. J. Ackerman Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., August 4, 2004; 44(3): 602 - 610. [Abstract] [Full Text] [PDF]
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P Charron, E Villard, P Sebillon, P Laforet, T Maisonobe, L Duboscq-Bidot, N Romero, V Drouin-Garraud, T Frebourg, P Richard, et al. Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey Heart, August 1, 2004; 90(8): 842 - 846. [Abstract] [Full Text] [PDF]
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L. Carrier, R. Knoll, N. Vignier, D. I Keller, P. Bausero, B. Prudhon, R. Isnard, M.-L. Ambroisine, M. Fiszman, J. Ross Jr., et al. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice Cardiovasc Res, August 1, 2004; 63(2): 293 - 304. [Abstract] [Full Text] [PDF]
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B. J. Maron, B. R. Chaitman, M. J. Ackerman, A. Bayes de Luna, D. Corrado, J. E. Crosson, B. J. Deal, D. J. Driscoll, N.A. M. Estes III, C. G. S. Araujo, et al. Recommendations for Physical Activity and Recreational Sports Participation for Young Patients With Genetic Cardiovascular Diseases Circulation, June 8, 2004; 109(22): 2807 - 2816. [Abstract] [Full Text] [PDF]
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