© 2000 by European Society of Cardiology
REGULAR ARTICLE: MOLECULAR AND CELLULAR BASIS OF ELECTROPHYSIOLOGICAL DISEASES
The molecular genetics of hypertrophic cardiomyopathy: prognostic implications
Department of Cardiological Sciences, St. George's Hospital Medical School London, U.K.
Key Words: Hypertrophic cardiomyopathy, genetics, sudden death
Correspondence: William J. McKenna, MD Department of Cardiological Sciences, St. George's Hospital Medical School, Cranmer Terrace London SW17 ORE, U.K.
[1] Maron BJ, Bonow RO, Cannon RO III. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med 1987; 316: 780–789.[Web of Science][Medline]
[2] Maron BJ, Shirani J, Poliac LC. Sudden death in young competitive athletes: clinical, demographic, and pathological profiles. JAMA 1996; 276: 199–204.
[3] Spirito P, Seidman CE, McKenna WJ. The management of hypertrophic cardiomyopathy. N Engl J Med 1997; 336: 775–785.
[4] Mogensen J, Klausen IC, Pedersen AK. 
-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999; 103: R39–R43.[Medline]
[5] Poetter K, Jiang H, Hassanzadeh S. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscles. Nature Genet 1996; 13: 63–69.[CrossRef][Web of Science][Medline]
[6] Kimura A, Harada H, Park J-E. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nature Genet 1997; 16: 379–382.[CrossRef][Web of Science][Medline]
[7] MacRae CA, Ghaisas N, Kass S. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest 1995; 96: 1216–1220.[Web of Science][Medline]
[8] Rayment I, Rypniewski WR, Schmidt-Bäse K. Three-dimensional structure of myosin subfragment-1: a molecular motor. Science 1993; 261: 50–56.
[9] Carrier L, Bonne G, Bahrend E. Organization and sequence of human cardiac myosin binding protein C gene (MyBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 1997; 80: 427–434.[Web of Science][Medline]
[10] Gautel M, Suffardi O, Freiburg A. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J 1995; 14: 1952–1960.[Web of Science][Medline]
[11] Bejsovec A and Anderson P. Myosin heavy-chain mutations that disrupt caeonorhabditis elegans thick filament assembly. Genes Dev 1988; 2: 1307–1317.
[12] Lankford EB, Epstein ND, Fananapazir L. Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest 1995; 95: 1409–1414.[Web of Science][Medline]
[13] Sweeney HL, Straceski AJ, Leinwand LA. Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem 1994; 269: 1603–1605.
[14] Cuda G, Fananapazir L, Zhu W. Skeletal muscle expression and abnormal function of ß-myosin in hypertrophic cardiomyopathy. J Clin Invest 1993; 91: 2861–2865.[Web of Science][Medline]
[15] Watkins H, Seidman CE, Seidman JG. Expression and functional assessement of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. J Clin Invest 1996; 98: 2456–2461.[Web of Science][Medline]
[16] Straceski AJ, Geisterfer-Lowrance AAT, Seidman CE. Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A 1994; 91: 589–593.
[17] Marian AJ, Yu Q-T, Mann D. Expression of the mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes. Circ Res 1995; 77: 98–106.
[18] Geisterfer-Lowrance AAT, Christe M, Conner DA. A mouse model for familial hypertrophic cardiomyopathy. Science 1996; 272: 731–734.[Abstract]
[19] Berul CI, Christe M, Aronovitz MJ. Electrophysiological abnormalities and arrhythmias in -MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest 1997; 99: 570–576.[Web of Science][Medline]
[20] Vikstrom KL, Factor SM, Leinwand LA. Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy. Mol Med 1996; 2: 556–567.[Web of Science][Medline]
[21] Tardiff JC, Factor SM, Tompkins BD. A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. J Clin Invest 1998; 101: 2800–2811.[Web of Science][Medline]
[22] Beall C, Sepanski MA, Fyrberg EA. Genetic dissection of Drosophila myofibril formation; effects of actin and myosin heavy chain null alleles. Genes Deve 1989; 3: 131–140.
[23] Fyrberg E, Fyberg CC, Beall C. Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities. J Mol Biol 1990; 216: 657–675.[CrossRef][Web of Science][Medline]
[24] Jones WK, Grupp IL, Doetschman T. Ablation of the murine alpha myosin heavy chain gene leads to dosage effects and functional deficits in the heart. J Clin Invest 1996; 98: 1906–1917.[Web of Science][Medline]
[25] Marian AJ, Zhao G, Seta Y, Roberts R, Yu Q-T. Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. Circ Res 1997; 81: 76–85.
[26] Fujita H, Sugura S, Momomura S. Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants: molecular force level of mutant myosins may have a prognostic implication. J Clin Invest 1997; 99: 1010–1015.[Web of Science][Medline]
[27] Lin D, Bobkova A, Homsher E. Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J Clin Invest 1996; 97: 2842–2848.[Web of Science][Medline]
[28] Bottinelli R, Coviello DA, Redwood CS. A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity. Circ Res 1998; 82: 106–115.
[29] Bing W, Redwood CS, Pucell IF. Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+regulation of thin filament motiity. Biochem Biophys Res Commun 1997; 236: 760–764.[CrossRef][Web of Science][Medline]
[30] Morimoto S, Yanaga F, Minakami R. Ca2+-sensitizing effects of the mutations at lle-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy. Am J Physiol 1998; 275: C200–207.[Web of Science][Medline]
[31] Osterop AP, Kofflard MJ, Sandjuijl LA. AT1 Receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 1998; 32: 825–830.
[32] Brugada R, Kelsey W, Lechin M. Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy. J Invest Med 1997; 45: 542–551.[Web of Science][Medline]
[33] Marian AJ, Yu Q-T, Workman R. Angiotensin converting enzyme polymorphism is associated with hypertrophic cardiomyopathy as well as sudden cardiac death. Lancet 1993; 342: 1073–1074.[CrossRef][Web of Science][Medline]
[34] Lechin M, Quiñones M, Omran A. Angiotensin-I converting enzyme genotypes influence the phenotypic expression of hypertrophic cardiomyopathy. Circulation 1995; 92: 1808–1812.
[35] Geisterfer-Lowrance AAT, Kass S, Tanigawa G. A molecular basis for familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77: 701–712.[CrossRef][Web of Science][Medline]
[36] Watkins H, McKenna WJ, Thierfelder L. Mutations in the genes for cardiac troponin T and -tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995; 332: 1058–1064.
[37] Watkins H, Rosenzweig A, Hwang DS. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Eng J Med 1992; 326: 1108–1114.[Abstract]
[38] Epstein ND, Cohn GM, Cyran F. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the ß-myosin heavy chain gene. Circulation 1992; 86: 345–352.
[39] Marian AJ, Mares A, Kelly DP. Sudden cardiac death in hypertrophic cardiomyopathy: variability in phenotypic expression of ß-myosin heavy chain mutations. Eur Heart J 1995; 16: 368–376.
[40] Conte MR, Morello M, Mangiardi L. An ARG403GLN ß-myosin heavy chain gene mutation identified in an Italian family with hypertrophic cardiomyopathy: description of clinical features of the family members. Eur Heart J 1997; 18: 1033–1037.
[41] Anan R, Greve G, Thierfelder L. Prognostic implications of novel ß cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994; 93: 280–285.[Web of Science][Medline]
[42] Marian AJ and Roberts R. Molecular genetic basis of hypertrophic cardiomyopathy: genetic markers for sudden cardiac death. J Cardiovasc Electrophysiol 1998; 9: 88–99.[Web of Science][Medline]
[43] Spirito P, Chiarella F, Carratino L. Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population. N Engl J Med 1989; 320: 749–755.[Abstract]
[44] Fananazapir L and Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical ß-myosin heavy chain gene mutations. Circulation 1994; 89: 22–32.
[45] Abchee A and Marian AJ. Prognostic significance of ß-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. J Invest Med 1997; 45: 191–196.[Web of Science][Medline]
[46] Posen BM, Moolman JC, Corfield VA. Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac ß myosin heavy chain gene mutations. Br Heart J 1995; 74: 40–46.
[47] Dausse E, Komajda M, Fetler L. Familial hypertrophic cardiomyopathy: microsatellite haplotyping and identification of a hot spot for mutations in the ß-myosin heavy chain gene. J Clin Invest 1993; 92: 2807–2813.[Web of Science][Medline]
[48] Charron P, Dubourg O, Desnos M. Genotype-phenotype correlations in familial hypertrophic cardiomyopathy: a comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. Eur Heart J 1998; 19: 139–145.
[49] Thierfelder L, Watkins H, MacRae C. -Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77: 701–712.[CrossRef][Web of Science][Medline]
[50] Moolman JC, Corfield VA, Posen B. Sudden death due to troponin T mutations. J Am Coll Cardiol 199; 29: 549–555.
[51] Nakajima-Taniguchi C, Matsui H, Fujio Y. Novel missense mutation in cardiac troponin T gene found in a Japanese patient with hypertrophic cardiomyopathy. J Mol Cell Cardiol 1997; 29: 839–843.[CrossRef][Web of Science][Medline]
[52] Forissier J-F, Carrier L, Farza H. Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation 1996; 94: 3069–3073.
[53] Anan R, Shono H, Kisanuki A. Patients with familial hypertrophic cardiomyopathy caused by a Phe 110lle missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. Circulation 1998; 98: 391–397.
[54] Carrier L, Hengstenberg C, Beckmann JS. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nature Genet 1993; 4: 311–313.[CrossRef][Web of Science][Medline]
[55] Bonne G, Carrier L, Bercovici J. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nature Genet 1995; 11: 438–440.[CrossRef][Web of Science][Medline]
[56] Watkins H, Conner D, Thierfelder L. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nature Genet 1995; 11: 434–437.[CrossRef][Web of Science][Medline]
[57] Nimura H, Bachinski LL, Sangwatanaroj S. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248–1257.
[58] Charron P, Dubourg O, Desnos M. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998; 97: 2230–2236.
[59] Thierfelder L, MacRae C, Watkins H. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci U S A 1993; 90: 6270–6274.
[60] Yamauchi-Takihara K, Nakajima-Taniguchi C, Matsui H. Clinical implications of hypertrophic cardiomyopathy associated with mutations in the -tropomyosin gene. Heart 1996; 76: 63–65.
[61] Coviello DA, Maron BJ, Spirito P. Clinical features of hypertophic cardiomyopathy caused by mutation of a ‘hot spot’ in the alpha-tropomyosin gene. J Am Coll Cardiol 1997; 29: 635–640.[Abstract]
[62] Flavigny J, Richard P, Isnard R. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol Med 1998; 76: 208–214.[CrossRef][Web of Science][Medline]
[63] Seidman CE and Seidman JG. Gene mutations that cause familial hypertrophic cardiomyopathy. In Haber E (Ed.). Molecular cardiovascular medicine 1995; New York Scientific American pp. 193–209.
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