Skip to main content
SpringerLink
Log in

Kardiomyopathien — genetische Ursachen und Pathogenese

  • Chapter
Book cover Herz-Kreislauf-Erkrankungen

Part of the book series: Handbuch der Molekularen Medizin ((HDBMOLEK,volume 3))

Zusammenfassung

Als Kardiomyopathien werden Krankheiten des Herzmuskels bezeichnet, die zu einer Beeinträchtigung der systolischen und/oder diastolischen Funktion der Herzkammern führen. Dabei werden am Herzen zugleich auffällige Strukturveränderungen gesehen, die für die einzelnen Formen der Kardiomyopathie charakteristisch sind. Zeichen der Veränderung sind — je nach Art der Krankheit — Hypertrophie der Herzmuskulatur, Atrophie des Myokards mit Ersatz durch Binde- und Fettgewebe, Dilatation der Kammern mit oder ohne Hypertrophie der Myozyten oder Fibrosierung des Gewebes. Histologische Zeichen sind u. a. die unregelmäßige Anordnung von Myozyten und Verdickungen der Wände kleiner Arterien. Typische funktionelle Änderungen betreffen, wiederum je nach Grundkrankheit unterschiedlich, die Kontraktion mit eingeschränkter Pumpfunktion, die Relaxation und das Füllungsverhalten der Kammern sowie die Erregungsausbreitung, die oft gestört ist, zuweilen bis hin zum Kammerflimmern. Fast alle Formen der Kardiomyopathie gehen mit einem erhöhten Risiko für einen plötzlichen Herztod einher.

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 79.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 99.99
Price excludes VAT (USA)
  • Compact, lightweight 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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • Abchee A, Marian AJ (1997) Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. J Invest Med 45: 191

    CAS  Google Scholar 

  • Abelmann WH, Lorell BH (1989) The challenge of cardiomyopathy. J Am Coll Cardiol 13: 1. 219

    Google Scholar 

  • Ahn AH, Kunkel LM (1993) The structural and functional diversity of dystrophin. Nat Genet 3: 283

    PubMed  CAS  Google Scholar 

  • Anan R, Greve G, Thierfelder L et al. (1994) Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 93: 280

    PubMed  CAS  Google Scholar 

  • Anan R, Nakagawa M, Miyata M et al. (1995) Cardiac involvement in mitochondrial diseases: a study on 17 patients with documented mitochondrial defects. Circulation 91: 955

    PubMed  CAS  Google Scholar 

  • Ansari AA, Wang YC, Danner DJ et al. (1991) Abnormal expression of histocompatibility and mitochondrial antigens by cardiac tissue from patients with myocarditis and dilated cardiomyopathy. Am J Pathol 139: 337

    PubMed  CAS  Google Scholar 

  • Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, Kimura M, Imamura S, Furutani Y, Joho K et al. (1995) Missense mutation of the beta-cardiac myosin heavy chain gene in hypertrophic cardiomyopathy. Am J Med Genet 58: 267

    PubMed  CAS  Google Scholar 

  • Arber S, Hunter JJ, Ross J, Hongo M, Sansig G, Borg J, Perriard JC, Chien KR, Caroni P (1997) MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell 88: 393

    PubMed  CAS  Google Scholar 

  • Aroney C, Bett N, Redford D (1988) Familial restrictive cardiomyopathy. Aust N Z J Med 18: 877

    PubMed  CAS  Google Scholar 

  • Aslanidis C, Jansen G, Asemiya C et al. (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355: 548

    PubMed  CAS  Google Scholar 

  • Bachinski LL, Roberts R (1996) Familial hypertrophic cardiomyopathy: diagnostic and therapeutic implications of recent genetic studies. Mol Med Today Sep 1996, p 387

    Google Scholar 

  • Batista RJV, Verde J, Nery P et al. (1997) Partial left ventriculectomy to treat end-stage heart disease. Ann Thorac Surg 64: 634

    PubMed  CAS  Google Scholar 

  • Becker AE, Caruso G (1982) Myocardial disarray. A critical review. Br Heart J 47: 527

    Google Scholar 

  • Becker KD, Gottshall KR, Hickey R, Perriard JC, Chien KR (1997) Point mutations in human β cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal assembly. J Cell Biol 137: 131

    PubMed  CAS  Google Scholar 

  • Bejsovec A, Anderson P (1990) Functions of the myosin ATP and actin binding sites are required for C. elegans thick filament assembly. Cell 60: 133

    PubMed  CAS  Google Scholar 

  • Bennett CO, Burn J, Moore G (1987) Prevalence of hypertrophic cardiomyopathy in the Northern region of England. J Med Genet 94: 243

    Google Scholar 

  • Betocchi S, Losi MA, Piscione F et al. (1996) Effects of dual-chamber pacing in hypertrophic cardiomyopathy on left ventricular outflow tract obstruction and on diastolic function. Am J Cardiol 77: 498

    PubMed  CAS  Google Scholar 

  • Bione S, Maestrini E, Rivella S et al. (1994) Identification of a novel X-chromosomal gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8: 323

    PubMed  CAS  Google Scholar 

  • Bjarnason I, Hallgrimsson J (1980) Hypertrophic cardiomyopathy: an autopsy study for the years 1966–78. Icel Med J 66: 205

    Google Scholar 

  • Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hain-que B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K (1995) Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 11: 438

    PubMed  CAS  Google Scholar 

  • Bonow RO, Rosing DR, Bacharach SL, Green MV, Kent KM, Lipson LC, Maron BJ, Leon MB, Epstein SE (1981) Effects of verapamil on left ventricular systolic function and diastolic filling in patients with hypertrophic cardiomyopathy. Circulation 64: 787

    PubMed  CAS  Google Scholar 

  • Bowles KR, Gajarski R, Porter P, Goytia V, Bachinski L, Roberts R, Pignatelli R, Towbin JA (1996) Gene mapping of familial dominant dilated cardiomyopathy to chromosome 10q21–23. J Clin Invest 98: 1. 355

    Google Scholar 

  • Braunwald E (ed) (1996) Heart disease, 5th edn. Saunders, Philadelphia

    Google Scholar 

  • Braunwald E, Lambrew CT, Rockhoff SD (1964) Idiopathic hypertrophic subaortic stenosis: I. A description of the disease based upon an analysis of 64 patients. Circulation [Suppl 4] 29–30: 3

    Google Scholar 

  • Bredman JJ, Wessels A, Weijs WA, Korfage JAM, Soffers CAS, Moorman AFM (1991) Demonstration of cardiac-specific myosin heavy chain in masticatory muscles of human and rabbit. Histochem J 23: 160

    PubMed  CAS  Google Scholar 

  • Brook JD, McCurrach ME, Harley HG et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member. Cell 68: 799

    PubMed  CAS  Google Scholar 

  • Caforio ALP, Grazzini M, Mann JM et al. (1992) Identification of a-and β-myosin heavy chain isoforms as major autoantigens in dilated cardiomyopathy. Circulation 85: 221

    Google Scholar 

  • Campuzano V, Montermini L, Dolores M et al. (1996) Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1. 423

    Google Scholar 

  • Carrier L, Hengstenberg C, Beckmann JS et al. (1993) Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet 4: 311

    PubMed  CAS  Google Scholar 

  • Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, Hainque B, Cruaud C, Gary F, Labeit S, Bouhour JB, Dubourg O, Desnos M, Hagge AA, Trent RJ, Komajda M, Fiszman M, Schwartz K (1997) Organization and sequence of human cardiac myosin binding protein C gene (MYBPC 3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 80: 427

    PubMed  CAS  Google Scholar 

  • Chachques JC, Radermercker M, Tolan MJ et al. (1996) Aortomyoplasty counterpulsation: experimental results and early clinical experience. Ann Thorac Surg 61: 240

    Google Scholar 

  • Child JS, Perloff JK, Bach PM, Wolfe AD, Perlman S, Kark RA (1986) Cardiac involvement in Friedreich’s ataxia: a clinical study of 75 patients. J Am Coll Cardiol 7: 1. 370

    Google Scholar 

  • Clarke A, Harper P (1992) Genetic testing for hypertrophic cardiomyopathy. N Engl J Med 327: 1. 175

    Google Scholar 

  • Codd MB, Sugrue DD, Gersh BJ, Melton III LJ (1989) Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study on Olmsted County, Minnesota, 1975–1984. Circulation 80: 564

    PubMed  CAS  Google Scholar 

  • Cohen LS, Braunwald E (1967) Amelioration of angina pectoris in idiopathic hypertrophic subaortic stenosis with beta-adrenergic blockade. Circulation 35: 847

    PubMed  CAS  Google Scholar 

  • Cooley DA, Leachman RD, Wukasch DC (1973) Diffuse muscular subaortic stenosis: surgical treatment. Am J Cardiol 31: 1

    PubMed  CAS  Google Scholar 

  • Consevage MW, Salada GC, Baylen BG et al. (1994) A new missence mutation, Arg719G1n, in the beta-cardiac heavy chain myosin gene of patients with hypertrophic cardiomyopathy. Hum Mol Genet 3: 1. 025

    Google Scholar 

  • Coviello DA, Maron BJ, Spirito P, Watkins H, Vosberg HP, Thierfelder L, Schoen FJ, Seidman JG, Seidman CE (1997) Clinical features of hypertrophic cardiomyopathy caused by mutation of a „hot spot“ in the alpha tropo-myosin gene. J Am Coll Cardiol 29: 635

    PubMed  CAS  Google Scholar 

  • Criley JM (1997) Unobstructed thinking (and terminology) is called for in the understanding and management of hypertrophic cardiomyopathy. J Am Coll Cardiol 29: 741

    PubMed  CAS  Google Scholar 

  • Cuda G, Fananapazir L, Zhu W, Sellers JR, Epstein ND (1993 a) Skeletal muscle expression and abnormal function of β-myosin in hypertrophic cardiomyopathy. J Clin Invest 91: 2.861

    Google Scholar 

  • Cuda G, Sellers J, Epstein ND, Fananapazir L (1993b) In vitro motility of fl-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy (abstract). Circulation 88: 1–343

    Google Scholar 

  • Cuda G, Perrotti N, Perticone F, Mattioli PL (1996) A previously undescribed de novo insertion-deletion mutation in the β-myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy. Heart 76: 451

    PubMed  CAS  Google Scholar 

  • Dausse E, Komajda M, Feder L et al. (1993) Familial hypertrophic cardiomyopathy: microsatellite haplotyping and identification of a hot spot for mutations in the β-myosin heavy chain gene. J Clin Invest 92: 2. 807

    Google Scholar 

  • Davies MJ (1984) The current status of myocardial disarray in hypertrophic cardiomyopathy. Br Heart J 51: 361 Davies MJ (1990) Hypertrophic cardiomyopathy: one disease or several? Br Heart J 63: 263

    Google Scholar 

  • Davies MJ, McKenna WJ (1995) Hypertrophic cardiomyopathy - pathology and pathogenesis. Histopathology 26: 493

    PubMed  CAS  Google Scholar 

  • Dec GW, Fuster V (1994) Idiopathic dilated cardiomyopathy. N Engl J Med 331: 1. 564

    Google Scholar 

  • Diaz RA, Obasohan A, Oakley C (1987) Prediction of outcome in dilated cardiomyopathy. Br Heart J 58: 393

    PubMed  CAS  Google Scholar 

  • Dufour C, Dausse E, Fetler L et al. (1994) Identification of a mutation near a functional site of the β cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy. J Mol Cell Cardiol 26: 1. 241

    Google Scholar 

  • Durand JB, Bachinski LL, Biding LC, Czernuszewicz GZ, Abchee AB, Yu QT, Tapscott T, Hill R, Ifegwu J, Marian AJ, Brugada R, Daiger S, Gregoritch JM, Anderson JL, Quinones M, Towbin JA, Roberts R (1995) Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 92: 3. 387

    Google Scholar 

  • Eastman JR, Bixler D (1977) Facio-cranial-renal syndrome: a newly delineated recessive disorder. Clin Genet 11: 424

    PubMed  CAS  Google Scholar 

  • Emanuel R, Withers R (1992) The cardiomyopathies. In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics, 2nd edn. Churchill Livingstone, Edinburgh London New York, p 1. 263

    Google Scholar 

  • Emery AEH (1989) Emery-Dreifuss syndrome. J Med Genet 26: 637

    PubMed  CAS  Google Scholar 

  • Emery AEH, Dreifuss FE (1966) Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 29: 338

    PubMed  CAS  Google Scholar 

  • Epstein SE, Rosing DR (1981) Verapamil: its potential for causing serious complications in patients with hypertrophic cardiomyopathy. Circulation 64: 437

    PubMed  CAS  Google Scholar 

  • Epstein ND, Fananapazir L, Lin HJ, Mulvihill J, White R, Lalouel JM, Lifton RP, Nienhuis AW, Leppert M (1992 a) Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. Circulation 85: 635

    Google Scholar 

  • Epstein ND, Cohn GM, Cyran F, Fananapazir L (1992b) Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908 Leu:Val mutation and a 403Arg:Gln mutation. Circulation 86: 345

    PubMed  CAS  Google Scholar 

  • Erdmann E, Riecker G (Hrsg) (1996) Klinische Kardiologie, 4. Aufl. Springer, Berlin Heidelberg New York

    Google Scholar 

  • Evans W (1949) Familial cardiomegaly. Br Heart J 11: 68

    PubMed  CAS  Google Scholar 

  • Fananapazir L, Epstein ND (1994) Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 89: 499

    Google Scholar 

  • Fananapazir L, Cannon RO, Tripodi D, Panza JA (1992a) Impact of dual-chamber permanent pacing in patients with obstructive hypertrophic cardiomyopathy with symptoms refractory to verapamil and /3-adrenergic blocker therapy. Circulation 85: 2. 149

    Google Scholar 

  • Fananapazir L, Dalakas M, Cyran F et al. (1992b) Central core disease is present in hypertrophic cardiomyopathy patients with distinct mutations in the beta myosin heavy chain gene (abstract). Circulation 86: 1–229

    Google Scholar 

  • Fananapazir L, Dalakas MC, Cyran F et al. (1993) Missense mutations in the beta myosin heavy chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 90: 3. 993

    Google Scholar 

  • Feigenbaum H (1996) Echocardiography. In: Braunwald E (ed) Heart disease, 5th edn. Saunders, Philadelphia, pp 53–107

    Google Scholar 

  • Fitzpatrick AP, Shapiro LM, Richards AF et al. (1990) Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. Br Heart J 63: 114

    PubMed  CAS  Google Scholar 

  • Fodor WL, Darras B, Sehareseyon J, Falkenthal S, Francke U, Vanin EF (1989) Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. J Biol Chem 264: 2. 143

    Google Scholar 

  • Fontaine G, Guiraudon G, Frank R et al. (1982) Dysplasie ventriculaire droite arythmogène et maladie de Uhl. Arch Mal Coeur Vaiss 75: 361

    PubMed  CAS  Google Scholar 

  • Forissier JF, Carrier L, Farza H, Bonne G, Bercovici J, Richard P, Heinque B, Townsend PJ, Yacoub MH, Fauré S, Dubourg O, Millaire A, Hagège AA, Desnos M, Komajda M, Schwartz K (1996) Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation 94: 3. 069

    Google Scholar 

  • Frank R, Fontaine G, Vedel J et al. (1978) Electrocardiologie de quatre cas de dysplasie ventriculaire droite arythmogène. Arch Mal Coeur Vaiss 71: 963

    PubMed  CAS  Google Scholar 

  • Franz WM, Cremer M, Herrmann R, Grünig E, Fogel W, Scheffold T, Goebel HH, Kircheisen R, Kübler W, Voit T, Katus HA (1995) X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. Ann NY Acad Sci 752: 470

    Google Scholar 

  • Frenneaux MP, Counihan PJ, Caforio AL, Chikamori T, McKenna WJ (1990) Abnormal blood pressure response during exercise in hypertrophic cardiomyopathy. Circulation 82: 1. 995

    Google Scholar 

  • Fürst DO, Vinkemeyer U, Weber K (1992) Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of full length cDNA. J Cell Sci 102: 769

    PubMed  Google Scholar 

  • Gautel M, Zuffardi O, Freiburg A, Labeit S (1995) Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J 14: 1. 952

    Google Scholar 

  • Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG (1990) A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62: 999

    PubMed  CAS  Google Scholar 

  • Geisterfer-Lowrance AAT, Christe M, Conner DA, Ingwall JS, Schoen FJ, Seidman CE, Seidman JG (1996) A mouse model of familial hypertrophic cardiomyopathy. Science 272: 731

    PubMed  CAS  Google Scholar 

  • Gietzen FH, Kuhn H, Leuner CJ, Gerenkamp T, Hegselmann J, Strumk-Mueller C (1998) Acute and intermediate-term results after transcoronary ablation of septum hypertrophy be selective septal branch injection of ethanol. A catheter interventional treatment for hypertrophic obstructive cardiomyopathy (abstract). Circulation 98: 1–599

    Google Scholar 

  • Gold R, Kress W, Meurers B, Meng G, Reichmann H, Müller CR (1992) Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. Muscle Nerve 15: 214

    PubMed  CAS  Google Scholar 

  • Goodwin JF (1970) Congestive and hypertrophic cardiomyopathies: a decade of study. Lancet 1: 731

    Google Scholar 

  • Goodwin JF (1982) The frontiers of cardiomyopathy. Br Heart J 48: 1

    PubMed  CAS  Google Scholar 

  • Goodwin JF, Krikler DM (1976) Arrhythmia as a cause of sudden death in hypertrophic cardiomyopathy. Lancet 2: 937

    PubMed  CAS  Google Scholar 

  • Greve G, Bachinski L, Friedman DL et al. (1994) Isolation of a de novo mutant myocardial /3MHC protein in a pedigree with hypertrophic cardiomyopathy. Hum Mol Genet 3: 2. 073

    Google Scholar 

  • Hacia JG, Brody LC, Chee MS, Fodor SPA, Collins FS (1996) Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet 14: 441

    PubMed  CAS  Google Scholar 

  • Hallopeau L (1869) Retrecissement ventriculo-aortique. Gaz Med Paris 24: 683

    Google Scholar 

  • Hanrath P, Mathey DG, Siegert R, Bleifeld W (1980) Left ventricular relaxation and filing pattern in different forms of left ventricular hypertrophy: an echocardiographic study. Am J Cardiol 45: 15

    PubMed  CAS  Google Scholar 

  • Harada H, Kimura A, Nishi H et al. (1992) Genetic analysis of hypertrophic cardiomyopathy (abstract). Circulation [Supplj 86: 1–591

    Google Scholar 

  • Harada H, Kimura A, Nishi H et al. (1993) A missense mutation of cardiac β-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. Biochem Biophys Res Commun 194: 791–798

    PubMed  CAS  Google Scholar 

  • Harper PS (1995) Myotonic dystrophies and other autosomal muscular dystrophies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 4.227–4. 251

    Google Scholar 

  • Harper PS, Clarke AJ (1993) Screening for hypertrophic cardiomyopathy. BMJ 306: 859

    PubMed  CAS  Google Scholar 

  • Harper PS, Clarke AJ (1995) Testing may be unhelpful. BMJ 310: 857

    Google Scholar 

  • Hasenmaier B, Döhlemann C, Meitinger T, Vosberg HP (1997) Eine de novo Mutation im β-Myosin-Gen verursacht hypertrophische Kardiomyopathie (Abstract 636). Z Kardiol 86: 156

    Google Scholar 

  • Hasty P, Ramirez-Solis R, Krumlauf R, Bradley A (1991) Introduction of a subtle mutation into the Hox-2.6 locus in embryonic stem cells. Nature 350: 243

    PubMed  CAS  Google Scholar 

  • Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717

    PubMed  CAS  Google Scholar 

  • Jaenicke T, Diederich KW, Haas W, Schleich J, Lichter P, Pfordt M, Bach A, Vosberg HP (1990) The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product. Genomics 8: 194

    PubMed  CAS  Google Scholar 

  • Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis Keller H, Seidman JG, Seidman CE (1989) Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 321: 1. 372

    Google Scholar 

  • Jeschke B, Uhl K, Weist B et al. (1998) A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes. Hum Genet 102: 299

    PubMed  CAS  Google Scholar 

  • Johnson RA, Palacios I (1982) Dilated cardiomyopathy of the adult. N Engl J Med 307: 1.051, 1. 119

    Google Scholar 

  • Jontes JD (1995) Theories of muscle contraction. J Struct Biol 115: 119

    PubMed  CAS  Google Scholar 

  • Julian DG, Camm AJ, Fox KM, Hall RJC, Poole-Wilson PA (eds) (1996) Diseases of the heart, 2nd edn. Saunders, Philadelphia

    Google Scholar 

  • Kaltenbach M, Hopf R, Keller M (1976) Calciumantagonistische Therapie bei hypertrophisch-obstruktiver Kardiomyopathie. Dtsch Med Wochenschr 101: 1. 284

    Google Scholar 

  • Kandolf R (1988) The impact of recombinant DNA technology on the study of enterovirus heart disease. In: Bendinelli M, Friedman H (eds) Coxsackie viruses: a general update. Plenum Press, New York, p 293

    Google Scholar 

  • Kaplan EL, Meier P (1958) Nonparametric estimation from incomplete observations. J Am Stat Assoc 53: 457

    Google Scholar 

  • Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT, Baker PB, Cody RJ, Fishman MC, Cox N, Kong A, Wooley CF, Seidman JG, Seidman CE (1994) A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1. Nat Genet 7: 546

    PubMed  CAS  Google Scholar 

  • Kaye M (1992) The Registry of the International Society for Heart and Lung Transplantation: Ninth Official Report -1992. J Heart Lung Transplant 11: 599

    Google Scholar 

  • Keating MT, Sanguinetti MC (1996) Molecular genetic in-sights into cardiovascular disease. Science 272: 681

    PubMed  CAS  Google Scholar 

  • Keeling PI, Gang Y, Smith G et al. (1995) Familial dilated car-diomyopathy in the United Kingdom. Br Heart J 73: 417

    PubMed  CAS  Google Scholar 

  • Kelly DP, Strauss AW (1994) Inherited cardiomyopathies. N Engl J Med 330: 913

    PubMed  CAS  Google Scholar 

  • Keren A, Popp RL (1992) Assignment of patients into the classification of cardiomyopathies. Circulation 86: 1. 622

    Google Scholar 

  • Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki 0, Makamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T (1997) Mutations in the cardiac troponin T gene associated with hypertrophic cardiomyopathy. Nat Genet 16: 379

    PubMed  CAS  Google Scholar 

  • Klein R, Maisch B, Kochsiek K, Berg PA (1984) Demonstration of organ specific antibodies against heart mitochon-dria (anti-M7) in sera from patients with some forms of heart diseases. Clin Exp Immunol 58: 283

    PubMed  CAS  Google Scholar 

  • Knight C, Kurbaan AS, Seggewiss H, Henein M, Gunning M, Harrington D, Fassbender D, Gleichmann U, Sigwart U (1997) Nonsurgical septal reduction for hypertrophic obstructive cardiomyopathy: outcome in the first series of patients. Circulation 95: 2. 075

    Google Scholar 

  • Krajinovic M, Pinamonti B, Sinagra G, Vatta M, Severini GM, Milasin J, Falaschi A, Camerini F, Giacca M, Mestroni L, and the Heart Muscle Study Group (1995) Linkage of familial dilated cardiomyopathy to chromosome 9. Am J Hum Genet 57: 846

    Google Scholar 

  • Krehl L (1895) Beitrag zur Kenntnis der idiopathischen Herzmuskelerkrankungen. Dtsch Arch Klin Med 48: 414

    Google Scholar 

  • Kuang SQ, Yu JD, Lu L, He LM, Gong LS, Chen SJ, Chen Z (1996) Identification of a novel missense mutation in the cardiac β myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. J Mol Cell Cardiol 28: 1. 879

    Google Scholar 

  • Kuhn H, Gietzen F, Leuner C, Gerenkamp T (1997) Induction of subaortic septal ischemia to reduce obstruction in hypertrophic obstructive cardiomyopathy. Studies to develop a new catheter-based concept of treatment. Eur Heart J 18: 846

    Google Scholar 

  • Lankford EB, Epstein ND, Fananapazir L, Sweeney LE (1995) Abnormal contractile properties of muscle fibers expressing β-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Clin Invest 95: 1. 409

    Google Scholar 

  • Leinwand LA (1997) RNA mediated therapeutics for the myocardium (abstract S84). J Mol Cell Cardiol 29: A38

    Google Scholar 

  • Li Y, Huang TT, Carlson EJ, Melov S, Ursell PC, Olson JL, Noble LJ, Yoshimura MP, Berger C, Chan PH, Wallace DC, Epstein CJ (1995) Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat Genet 11: 376

    PubMed  CAS  Google Scholar 

  • Lichter P, Umeda PK, Levin JE, Vosberg HP (1986) Partial characterization of the human β-myosin heavy-chain which is expressed in heart and skeletal muscle. Eur J Biochem 160: 419

    PubMed  CAS  Google Scholar 

  • Liew CC, Sole MJ, Yamauchi-Takihara K et al. (1990) Complete sequence and organization of the human cardiac β-myosin heavy chain gene. Nucleic Acids Res 18: 3. 647

    Google Scholar 

  • Lin D, Bobkova A, Homsher E, Tobacman LS (1996) Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J Clin Invest 97: 2. 842

    Google Scholar 

  • Liouville H (1869) Retrecissement cardiaque sous aortique. Gaz Med Paris 24: 161

    Google Scholar 

  • Lowey S, Waller GS, Trybus KM (1993) Skeletal muscle myosin light chains are essential for physiological shortening. Nature 365: 454

    PubMed  CAS  Google Scholar 

  • Macera MJ, Szabo P, Wadgaonkar R, Siddiqui MAQ, Verma RS (1992) Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3. Genomics 13: 829

    PubMed  CAS  Google Scholar 

  • MacLellan WR, Schneider MD (1997) Death by design. Programmed cell death in cardiovascular biology and disease. Circ Res 81: 317

    Google Scholar 

  • MacRae C, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins HC, Anan R, Thierfelder LH, McGarry K, Rowland E, McKenna WJ, Seidman JG, Seidman CE (1995) Familial hypertrophic cardiomyopathy with Wolff-ParkinsonWhite syndrome maps to a locus on chromosome 7q3. J Clin Invest 96: 1. 216

    Google Scholar 

  • Magnusson Y, Marullo S, Hoyer S et al. (1990) Mapping of a functional autoimmune epitope on the βl-adrenergic receptor in patients with idiopathic dilated cardiomyopathy. J Clin Invest 86: 1. 658

    Google Scholar 

  • Mahavedan M, Tsilfidis C, Sabourin L et al. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ un-translated region of the gene. Science 255: 1. 253

    Google Scholar 

  • Maisch B, Deeg P, Liebau G, Kochsiek K (1983) Diagnostic relevance of humoral and cytotoxic immune reactions in primary and secondary dilated cardiomyopathy. Am J Cardiol 52: 1. 072

    Google Scholar 

  • Manolio TA, Baughman KL, Rodeheffer R et al. (1992) Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a national heart, lung, and blood institute workshop). Am J Cardiol 69: 1. 458

    Google Scholar 

  • Marcus FI, Fontaine GH, Guiraudon G et al. (1982) Right ventricular dysplasia: a report of 24 adult cases. Circulation 65: 384

    PubMed  CAS  Google Scholar 

  • Mares A, Greve G, Tapscott T, Roberts R (1993) Screening and identification of known and novel mutations in hypertrophic cardiomyopathy based on scanning with chemical cleavage (abstract). Circulation 88: 1–572

    Google Scholar 

  • Marian AJ, Roberts R (1995) Molecular genetics of hypertrophic cardiomyopathy. Annu Rev Med 46: 213

    PubMed  CAS  Google Scholar 

  • Marian AI, Yu QT, Mares AJ, Hill R, Roberts R, Perryman MB (1992) Detection of a new mutation in the beta myosin chain gene in an individual with hypertrophic cardiomyopathy. J Clin Invest 90: 2. 156

    Google Scholar 

  • Marian AI, Yu QT, Mann DL, Graham FL, Roberts R (1995) Expression of a mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes. Circ Res 77: 98

    PubMed  CAS  Google Scholar 

  • Maron BJ, Roberts WC, McAllister HA, Rosing DR, Epstein SE (1980) Sudden death in young athletes. Circulation 62: 218

    PubMed  CAS  Google Scholar 

  • Maron BJ, Gottdiener JS, Bonow RO, Epstein SE (1981 a) Hypertrophic cardiomyopathy with unusual locations of left ventricular hypertrophy undetectable by M-mode echocardiography: identification by wide-angle two-dimensional echocardiography. Circulation 63: 409

    Google Scholar 

  • Maron BI, Savage DD, Wolfson JK, Epstein SE (1981 b) Prognostic significance of 24 hour ambulatory electrocardiographic monitoring in patients with hypertrophic cardiomyopathy: a prospective study. Am J Cardiol 48: 252

    Google Scholar 

  • Maron BI, Roberts WC, Epstein SE (1982) Sudden death in hypertrophic cardiomyopathy: a profile of 78 patients. Circulation 65: 1. 388

    Google Scholar 

  • Maron BJ, Bonow RO, Cannon III RO, Leon MB, Epstein SE (1987) Hypertrophic cardiomyopathy. Interrelations of clinical manifestation, pathophysiology, and therapy. N Engl J Med 316: 780, 844

    PubMed  CAS  Google Scholar 

  • Maron BJ, Cecchi F, McKenna WI (1994) Risk factors and stratification for sudden death in patients with hypertrophic cardiomyopathy. Br Heart J 72: S. 6 13

    Google Scholar 

  • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild ED (1995) Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4,111 subjects in the CARDIA study. Circulation 92: 785

    PubMed  CAS  Google Scholar 

  • Matsuoka R, Yoshida MC, Kanda N, Kimura M, Ozasa H, Takao A (1989) Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2-q13. Am J Med Genet 32: 279

    PubMed  CAS  Google Scholar 

  • McKenna WJ (1996) Hypertrophic cardiomyopathy. In: Julian DG, Camm AI, Fox KM, Hall RJC, Poole-Wilson PA (eds) Diseases of the heart. Saunders, Philadelphia, p 506

    Google Scholar 

  • McKenna WJ, Deanfield JE (1984) Hypertrophic cardiomyopathy: an important cause of sudden death. Arch Dis Child 59: 971

    PubMed  CAS  Google Scholar 

  • McKenna WI, Camm AI (1989) Sudden death in hypertrophic cardiomyopathy. Assessment of patients at high risk. Circulation 80: 1. 489

    Google Scholar 

  • McKenna WJ, England D, Doi YL, Deanfield JE, Oakley C, Goodwin JF (1981) Arrhythmia in hypertrophic cardiomyopathy. I: Influence on prognosis. Br Heart J 46: 168

    Google Scholar 

  • McKenna WI, Oakley CM, Krikler DM, Goodwin JF (1985) Improved survival with amiodarone in patients with hypertrophic cardiomyopathy and ventricular tachycardia. Br Heart J 53: 412

    PubMed  CAS  Google Scholar 

  • McKenna WJ, Stewart JT, Nihoyannopoulos P, McGinty F, Davies MI (1990) Hypertrophic cardiomyopathy without hypertrophy: two families with myocardial disarray in the absence of increased myocardial mass. Br Heart J 63: 287

    PubMed  CAS  Google Scholar 

  • McKenna WI, Thiene G, Nava A et al. (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the ESC and of the Scientific Council on Cardiomyopathies of the ISFC. Br Heart J 71: 215

    Google Scholar 

  • McKenna WJ, Spirito P, Desnos M, Dubourg 0, Komajda M (1997) Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 77: 130

    PubMed  CAS  Google Scholar 

  • McKusick V (1996) Mendelian inheritance in man, 12th edn. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Michels VV, Moll PP, Miller FA, Tajik J, Chu JS, Driscoll DJ, Burnett JC, Rodeheffer RJ, Chesebro JH, Tazelaar HD (1992) The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 326: 77

    PubMed  CAS  Google Scholar 

  • Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M, and the Heart Muscle Study Group (1996) A point mutation in the 5’ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 5: 73

    Google Scholar 

  • Moolman JC, Brink PA, Corfield VA (1993) Identification of a new missense mutation at Arg403, CpG mutation hot-spot, in exon 13 of the β-myosin heavy chain gene. Hum Mol Genet 2: 1. 731

    Google Scholar 

  • Moolman JC, Brink PA, Corfield VA (1995) Identification of a novel Ala797Thr mutation in exon 21 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy. Hum Mutat 6: 197–198

    PubMed  CAS  Google Scholar 

  • Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman CE, Brink PA, Watkins H (1997) Sudden death due to troponin T mutations. J Am Coll Cardiol 29: 549

    PubMed  CAS  Google Scholar 

  • Morano I, Ritter 0, Bonz A, Timek T, Vahl CF, Michel G (1995) Myosin light chain-actin interaction regulates cardiac contractility. Circ Res 76: 720

    PubMed  CAS  Google Scholar 

  • Moss M (1996) An US experiment on young children ignites painful debate. Wall Street J 134: A-1, A-10

    Google Scholar 

  • Mudge GH, Goldstein S, Addonizio LJ, Caplan A, Mancini D, Levine TB, Ritsch ME, Stevenson LW (1993) Twenty-fourth Bethesda Conference: Task Force 3: recipient guidelines/prioritization. J Am Coll Cardiol 22: 21

    PubMed  CAS  Google Scholar 

  • Muir P, Nicholson F, Tilzey AI et al. (1989) Chronic relapsing pericarditis and dilated cardiomyopathy: serological evidence of persistent enterovirus infection. Lancet 1: 804

    PubMed  CAS  Google Scholar 

  • Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, Melis

    Google Scholar 

  • MA (1993) Deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 329: 921

    Google Scholar 

  • Nakajima-Taniguchi C, Matsui H, Eguchi N, Nagata S, Kishimoto T, Yamauchi-Takihara K (1995 a) A novel deletion mutation in the β-myosin heavy chain gene found in Japanese patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol 27: 2.607

    Google Scholar 

  • Nakajima-Taniguchi C, Matsui H, Nagata S et al. (1995b) Novel missense mutation in u-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol 27: 2. 053

    Google Scholar 

  • Nakajima-Taniguchi C, Matsui H, Fujio Y, Nagata S, Tadamitsu K, Yamauchi-Takihara K (1997) Novel missense mutation in cardiac troponin T gene found in a Japanese patient with hypertrophic cardiomyopathy. J Mol Cell Cardiol 29: 839

    PubMed  CAS  Google Scholar 

  • Neu N, Craig SW, Rose NR et al. (1987) Coxsackie virus induced myocarditis in mice: cardiac myosin autoantibodies do not cross-react with the virus. Clin Exp Immunol 69: 566

    PubMed  CAS  Google Scholar 

  • Nevin NC, Hill AE, Carson DJ (1991) Facio-cardio-renal ( Eastman-Bixler) syndrome. Am J Med Genet 40: 31

    Google Scholar 

  • Nicod P, Polikar R, Petersen KL (1988) Hypertrophic cardio- myopathy and sudden death. N Engl J Med 318: 1. 255

    Google Scholar 

  • Nishi H, Kimura A, Harada H, Toshima H, Sasazuki T (1992) Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Biochem Biophys Res Commun 188: 379

    PubMed  CAS  Google Scholar 

  • Nishi H, Kimura A, Harada H et al. (1993) Two distinct mutations of cardiac β-myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy. Circulation 88:1–1.838

    Google Scholar 

  • Nishi H, Kimura A, Harada H, Adachi K, Koga Y, Sasazuki T, Toshima H (1994) Possible gene dose effect of a mutant cardiac β-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 200: 549

    PubMed  CAS  Google Scholar 

  • Nishi H, Kimura A, Harada H, Koga Y, Adachi K, Matsuyama K, Koyanagi T, Yasunaga S, Imaizumi T, Toshima H, Sasazuki T (1995) A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 91: 2. 911

    Google Scholar 

  • Offer G, Moos C, Starr R (1973) A new protein of the thick filaments of vertebrate skeletal myofibrils. J Mol Biol 74: 653

    PubMed  CAS  Google Scholar 

  • Olson TM, Keating MT (1996) Mapping a cardiomyopathy locus to chromosome 3p22-p25. J Clin Invest 97: 528

    PubMed  CAS  Google Scholar 

  • Osier WM (ed) (1905) The principles and practice of medi- cine, 6th edn. Appleton,Lange, Norwalk Conn, p 820

    Google Scholar 

  • Paré JAP, Fraser RG, Pirozynski WJ, Shanks JA, Stubington D (1961) Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy. Am J Med 31: 37

    PubMed  Google Scholar 

  • Parillo JE, Cunnion RE, Epstein SE et al. (1989) A prospective, randomized, controlled trial of prednisone for dilated cardiomyopathy. N Engl J Med 321: 1. 061

    Google Scholar 

  • Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND (1996) Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 13: 63

    PubMed  CAS  Google Scholar 

  • Poulton J, Morton KJ, Weber K et al. (1994) Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 3: 947

    PubMed  CAS  Google Scholar 

  • Rampazzo A, Nava A, Danieli GA et al. (1994) The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 3: 959

    PubMed  CAS  Google Scholar 

  • Rampazzo A, Nava A, Erne P et al. (1995) A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 4: 2. 151

    Google Scholar 

  • Rayment I, Rypniewski WR, Schmidt-Bäse K et al. (1993) Three-dimensional structure of myosin subfragment-I: a molecular motor. Science 261: 50

    PubMed  CAS  Google Scholar 

  • Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND (1995) Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 92: 3. 864

    Google Scholar 

  • Reid JM, Houston AB, Lundmark E (1989) Hypertrophic cardiomyopathy in identical twins. Br Heart J 62: 384

    PubMed  CAS  Google Scholar 

  • Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P (1996) Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 93: 841

    PubMed  CAS  Google Scholar 

  • Rideout WM, Coetzee GA, Olumi AF, Jones PA (1990) 5Methylcytosin as an endogneous mutagen in the human LDL receptor and p53 genes. Science 249: 1.288

    Google Scholar 

  • Robinson K, Frenneaux MP, Stockins B et al. (1990) Atrial fibrillation in hypertrophic cardiomyopathy: a longitudinal survey. J Am Coll Cardiol 15: 1. 279

    Google Scholar 

  • Rötig A, Lonlay P de, Chretien D et al. (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17: 215

    PubMed  Google Scholar 

  • Romeo G, Menozzi P, Ferlini A et al. (1983) Incidence of Friedreich ataxia in Italy estimated from consangineous marriages. Am J Hum Genet 35: 523

    PubMed  CAS  Google Scholar 

  • Rosenzweig A, Watkins H, Hwang DS, Miri M, McKenna W, Traill TA, Seidman JG, Seidman CE (1991) Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med 325: 1. 753

    Google Scholar 

  • Ross RS, Bulkley BH, Hutchins GM et al. (1978) Idiopathic familial myocardiopathy in three generations: a clinical and pathological study. Am Heart J 96: 170

    PubMed  CAS  Google Scholar 

  • Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz WM, Fischer C, Vollrath B, Mall G, Dietz R, Kübler W, Katus HA (1997) Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein. J Clin Invest 100: 475

    Google Scholar 

  • Ruder MA, Winston SA, Davis JC et al. (1985) Arrhythmogenic right ventricular dysplasia in a family. Am J Cardiol 59: 799

    Google Scholar 

  • Ruppel KM, Spudich JA (1995) Myosin motor function: structural and mutagenic approaches. Curr Opin Cell Biol 7: 89

    PubMed  CAS  Google Scholar 

  • Saez LJ, Gianola KM, McNally EM, Feghali R, Eddy R, Shows TB, Leinwand LA (1987) Human cardiac myosin heavy chain genes and their linkage in the genome. Nucleic Acids Res 15: 5. 443

    Google Scholar 

  • Sanderson JE, Traill TA, Sutton MG et al. (1978) Left ventricular relaxation and filling in hypertrophic cardiomyopathy: an echocardiographic study. Br Heart J 40: 596

    PubMed  CAS  Google Scholar 

  • Sata M, Ikebe M (1996) Functional analysis of the mutations in the human cardiac β-myosin that are responsible for familial hypertrophic cardiomyopathy. J Clin Invest 98: 2. 866

    Google Scholar 

  • Savage DD, Seides SF, Clark CE (1978) Electrocardiographic findings in patients with obstructive and nonobstructive hypertrophic cardiomyopathy. Circulation 58: 402

    PubMed  CAS  Google Scholar 

  • Schiaffino S, Reggiani C (1996) Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev 76: 371

    PubMed  CAS  Google Scholar 

  • Schleef M, Werner K, Satzger U et al. (1993) Chromosomal location and genomic cloning of the mouse a-tropomyosin gene Tpm-1. Genomics 17: 519

    PubMed  CAS  Google Scholar 

  • Schmincke A (1907) Über linksseitige muskulöse Conusstenosen. Dtsch Med Wochenschr 33: 2. 082

    Google Scholar 

  • Schulte HD, Bircks WH, Loesse B et al. (1993) Prognosis of patients with hypertrophic obstructive cardiomyopathy after transaortic myectomy. Late results up to twenty-five years. J Thorac Cardiovasc Surg 106: 709

    Google Scholar 

  • Schwartz K, Beckmann J, Dufour C, Faure L, Fougerousse F, Carrier L, Hengstenberg C, Cohen D, Vosberg HP, Sacrez A et al. (1992) Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families. Circ Res 71: 3

    PubMed  CAS  Google Scholar 

  • Schwartz K Carrier L, Guicheney P, Komajda M (1995) Mo- lecular basis of cardiomyopathies. Circulation 91: 532

    PubMed  CAS  Google Scholar 

  • Seidman JG, Seidman C (1994) Searching candidate genes for mutations, Section 7. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR (eds) Current protocols in human genetics. Wiley, New York

    Google Scholar 

  • Shaw J, Lichter P, Driesel AJ et al. (1990) Regional localisation of the Friedreich ataxia locus to human chromosome 9q13–21.1. Cytogenet Cell Genet 53: 221

    PubMed  CAS  Google Scholar 

  • Sinha AM, Umeda PK, Kavinsky CJ et al. (1982) Molecular cloning of mRNA sequences for cardiac alpha-and beta-form myosin heavy chains: expression in ventricles of normal, hypothyroid, and thyrotoxic rabbits. Proc Natl Acad Sci USA 79: 5. 847

    Google Scholar 

  • Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, Hiller G, Jarcho JA, Morton CC, McBride WO, Mitchell AL, Bale AE, McKenna WJ et al. (1990a) 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 47: 389

    PubMed  CAS  Google Scholar 

  • Solomon SD, Jarcho JA, McKenna W, Geisterfer-Lowrance A, Germain R, Salerni R, Seidman JG, Seidman CE (1990b) Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J Clin Invest 86: 993

    PubMed  CAS  Google Scholar 

  • Solomon SD, Wolff S, Watkins H, Ridker PM, Come P, Seidman CE, McKenna WJ, Lee RT (1993) Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol 82: 498

    Google Scholar 

  • Spirito P, Chiarella F, Carratino L, Berisso MZ, Bellotti P, Vecchio C (1989) Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population. N Engl J Med 320: 749

    PubMed  CAS  Google Scholar 

  • Spirito P, Rapezzi C, Autore C et al. (1994) Prognosis of asymptomatic patients with hypertrophic cardiomyopathy and nonsustained ventricular tachycardia. Circulation 90: 2. 743

    Google Scholar 

  • Spirito P, Seidman CE, McKenna WJ, Maron BJ (1997) The management of hypertrophic cardiomyopathy. N Engl J Med 336: 775

    PubMed  CAS  Google Scholar 

  • Straceski AJ, Geisterfer-Lowrance AAT, Seidman CE, Leinwand LE (1994) Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 91: 589

    PubMed  CAS  Google Scholar 

  • Sugrue DD, Rodeheffer RJ, Codd MB et al. (1992) The clinical course of idiopathic dilated cardiomyopathy: a population based study. Ann Intern Med 117: 117

    PubMed  CAS  Google Scholar 

  • Sweeney HL, Straceski AJ, Leinwand LA, Tikunov BA, Faust L (1994) Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction. J Biol Chem 269: 1. 603

    Google Scholar 

  • Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE (1990) A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell 62: 991

    PubMed  CAS  Google Scholar 

  • Tazelaar HD, Billingham ME (1986) Leukocytic infiltrates in idiopathic dilated cardiomyopathy. A source of confusion with active myocarditis. Am J Surg Pathol 10: 404

    Google Scholar 

  • Teare D (1958) Asymmetrical hypertrophy of the heart in young adults. Br Heart J 20: 1

    PubMed  CAS  Google Scholar 

  • Tesson F, Dufour C, Moolman JC, Carrier L, Al-Mandawi S, Chojnowska L, Dubourg O, Soubrier F, Brink P, Komajda M, Guicheney P, Schwartz K, Feingold J (1997) The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol 29: 831

    PubMed  CAS  Google Scholar 

  • The AVID Investigators (1997) A comparison of antiarrhythmic-drug therapy with implantable defibrillators in patients resuscitated from near fatal ventricular arrhythmias. N Engl J Med 337: 1. 576

    Google Scholar 

  • The CONSENSUS Trial Study Group (1987) Effects of enalapril on mortality in severe congestive heart failure: results of the Cooperative North Scandinavian Enalapril Survival Study (CONSENSUS). N Engl J Med 316: 1. 429

    Google Scholar 

  • Thiene G, Nava A, Corrado D et al. (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318: 129

    PubMed  CAS  Google Scholar 

  • Thiene G, Basso C, Danieli GA, Rampazzo A, Corrado D, Nava A (1997) Arrhythmogenic right ventricular cardiomyopathy. A still unrecognized clinic entity. Trends Cardiovasc Med 7: 84

    Google Scholar 

  • Thierfelder L, MacRae C, Watkins H, Tomfohrde J, Williams M, McKenna W, Bohm K, Noeske G, Schlepper M, Bowcock A, Vosberg H-P, Seidman JG, Seidman CE (1993) A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci USA 90: 6. 270

    Google Scholar 

  • Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H-P, Seidman JG, Seidman CE (1994) a-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77: 701

    Google Scholar 

  • Torp A (1978) Incidence of congestive cardiomyopathy. Postgrad Med J 54: 435

    PubMed  CAS  Google Scholar 

  • Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ERB, Swift M (1993) X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87: 1. 854

    Google Scholar 

  • Toyooka T, Takasawa K, Kimura N et al. (1994) A novel mutation of myosin heavy chain gene from cardiac /3 to foetal skeletal type in a family with HCM, DCM and sudden death: a report and discussion (abstract). Eur Heart J [Suppl] 15: 34

    Google Scholar 

  • Vikstrom KL, Factor SM, Leinwand LE (1996) Mice expressing mutated myosin heavy chains are a model for familial hypertrophic cardiomyopathy. Mol Med 5: 556

    Google Scholar 

  • Vosberg HP, McKenna WJ (1996) Cardiomyopathies. In: Rimoin DL, Connor JM, Pyeritz RE (eds) Principles and

    Google Scholar 

  • practice of medical genetics, 3rd edn. Churchill Livingstone, New York, p 843

    Google Scholar 

  • Vosberg HP, Weist B, Uhl K, Schulz O, Trojani A, Schlepper M, McKeown P (1998) Molecular diagnosis of causes of dominantly inherited hypertrophic cardiomyopathy. In: Schumacher G, Sauer U (eds) Herzfehler and Genetik. Genetics of cardiomyopathies. Wissenschaftliche Verlagsgesellschaft, Stuttgart, im Druck

    Google Scholar 

  • Vosberg HP, Uhl K, Mehl S, Moolman J (1998) A newly created splice donor site in the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy (abstract). J Muscle Res Cell Motil, in press

    Google Scholar 

  • Wagner JA, Sax FL, Weisman HF et al. (1989) Calcium-antagonist receptors in the atrial tissue of patients with hypertrophic cardiomyopathy. N Engl J Med 320: 755

    PubMed  CAS  Google Scholar 

  • Warrick HM, Spudich JA (1987) Myosin structure and function in cell motility. Annu Rev Cell Biol 3: 379

    PubMed  CAS  Google Scholar 

  • Watkins H, Seidman CE, MacRae C et al. (1992a) Progress in familial hypertrophic cardiomyopathy: molecular genetic analysis in the original family studied by Teare. Br Heart J 67: 34–38

    PubMed  CAS  Google Scholar 

  • Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG (1992b) Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 326: 1.108–1.114.

    Google Scholar 

  • Watkins H, Thierfelder L, Hwang DS, McKenna W, Seidman JG, Seidman CE (1992c) Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest 90: 1. 666

    Google Scholar 

  • Watkins H, Thierfelder L, Anan R, McKenna WJ, Seidman JG, Seidman CE (1993 a) Independent origin of identical beta cardiac myosin heavy chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet 53: 1.180–1.185

    Google Scholar 

  • Watkins H, MacRae C, Thierfelder L, Chou Y-H, Frenneaux M, McKenna W, Seidman JG, Seidman CE (1993 b) A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet 3: 333

    Google Scholar 

  • Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O’Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, Seidman CE (1995a) Mutations in the genes for cardiac troponin T and a-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 332: 1. 058

    Google Scholar 

  • Watkins H, Seidman JG, Seidman CE (1995 b) Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet 4: 1.721

    Google Scholar 

  • Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE (1995c) Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 11: 434

    PubMed  CAS  Google Scholar 

  • Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL (1996) Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant-negative action. J Clin Invest 98: 2. 456

    Google Scholar 

  • Weist B, Vosberg HP (1995) Identification of a new FHC mutation in the human bMHC gene (abstract). J Mol Cell Cardiol 26: 119

    Google Scholar 

  • Weist B, McKeown P, Trojani A, Krämer M, Hartmann A, Vosberg HP (1996) Identifikation einer Mutation im ahelikalen Schwanzbereich des menschlichen /JMHC Gens (Abstract 360). Z Kardiol 85: 101

    Google Scholar 

  • WHO/ISFC (1980) Report of the WHO/ISFC Task Force on the definition and classification of cardiomyopathies. Br Heart J 44: 672

    Google Scholar 

  • Wolfgram LJ, Beisel KW, Herskowitz A, Rose NR (1986) Variations in the susceptibility to Coxsackie virus B3-induced myocarditis among different strains of mice. J Immunol 136: 1. 846

    Google Scholar 

  • Yamaguchi H, Ishimura T, Nishiyama S et al. (1979) Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol 44: 401

    PubMed  CAS  Google Scholar 

  • Yamauchi-Takihara K, Nakajima-Taniguchi C, Matsui H, Fujio Y, Kunisada K, Nagata S, Kishimoto T (1996) Clinical implications of hypertrophic cardiomyopathy associated with mutations in the a-tropomyosin gene. Heart 76: 63

    PubMed  CAS  Google Scholar 

  • Zot AS, Potter JD (1987) Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction. Annu Rev Biophys Biomol Struct 16: 535

    CAS  Google Scholar 

Download references

Authors
  1. Hans-Peter Vosberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Werner Haberbosch
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Max-Delbrück-Centrum für Molekulare Medizin (MDC), Robert-Rössle-Str. 10, D-13122, Berlin-Buch, Deutschland

    Detlev Ganten  & Klaus Ruckpaul  & 

Rights and permissions

Reprints and permissions

Copyright information

© 1998 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Vosberg, HP., Haberbosch, W. (1998). Kardiomyopathien — genetische Ursachen und Pathogenese. In: Ganten, D., Ruckpaul, K. (eds) Herz-Kreislauf-Erkrankungen. Handbuch der Molekularen Medizin, vol 3. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-80360-4_3

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-80360-4_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-80361-1

  • Online ISBN: 978-3-642-80360-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation