The failing heart (original) (raw)

• O'Connell, J. B. & Bristow, M. R. Economic impact of heart failure in the United States: time for a different approach. J. Heart Lung Transplant 13, S107–S112 (1994).
  CAS PubMed Google Scholar
• Richardson, P. et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 93, 841–842 (1996).
  Article CAS PubMed Google Scholar
• Kushwaha, S. S., Fallon, J. T. & Fuster, V. Restrictive cardiomyopathy. N. Engl. J. Med. 336, 267–276 (1997).
  Article CAS PubMed Google Scholar
• Corrado, D. et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J. Am. Coll. Cardiol. 30, 1512–1520 (1997).
  Article CAS PubMed Google Scholar
• Thiene, G., Nava, A., Corrado, D., Rossi, L. & Pennelli, N. Right ventricular cardiomyopathy and sudden death in young people. N. Engl. J. Med. 318, 129–133 (1988).
  Article CAS PubMed Google Scholar
• Furlanello, F. et al. Cardiac arrest and sudden death in competitive athletes with arrhythmogenic right ventricular dysplasia. Pacing Clin. Electrophysiol. 21, 331–335 (1998).
  Article CAS PubMed Google Scholar
• Codd, M. B., Sugrue, D. D., Gersh, B. J. & Melton, L. J. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. Circulation 80, 564–572 (1989).
  Article CAS PubMed Google Scholar
• Abelman, W. H. & Lorrell, B. H. The challenge of cardiomyopathy. J. Am. Coll. Cardiol. 13, 1219 (1989).
  Article Google Scholar
• Towbin, J. A. in The Molecular and Clinical Genetics of Cardiac Electrophysiological Disease Ch. 13 (eds Berul, C. I. & Towbin, J. A.) 195–218 (Kluwer Academic, Norwell, MA, 2000).
  Book Google Scholar
• Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 93, 841–842 (1996).
• Gillum, R. F. Idiopathic cardiomyopathy in the United States. Am. Heart J. 111, 752–755 (1986).
  Article CAS PubMed Google Scholar
• Grunig, E. et al. Frequency and phenotypes of familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 31, 186–194 (1998).
  Article CAS PubMed Google Scholar
• Durand, J. B. et al. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 92, 3387–3389 (1995).
  Article CAS PubMed Google Scholar
• Siu, B. L. et al. Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99, 1022–1026 (1999).
  Article CAS PubMed Google Scholar
• Li, D. et al. Desmin mutations responsible for idiopathic dilated cardiomyopathy. Circulation 100, 461–464 (1999).
  Article CAS PubMed Google Scholar
• Barresi, R. et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β-sarcoglycan mutations. J. Med. Genet. 37, 102–107 (2000)
  Article CAS PubMed PubMed Central Google Scholar
• Tsubata, S. et al. Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106, 655–662 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Krajinovic, M. et al. Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57, 846–852 (1995).
  CAS PubMed PubMed Central Google Scholar
• Bowles, K. R. et al. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21–23. J. Clin. Invest. 98, 1355–1360 (1996).
  Article CAS PubMed PubMed Central Google Scholar
• Kamisago, M. et al. Mutations in sarcomeric protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med. 343, 1688–1696 (2000).
  Article CAS PubMed Google Scholar
• Olson, T. M., Kishimoto, N. Y., Whitby, F. G. & Michels, V. V. Mutations that alter the surface change of α-tropomyosin are associated with dilated cardiomyopathy. J. Mol. Cell. Cardiol. 33, 723–732 (2001).
  Article CAS PubMed Google Scholar
• Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y. S. & Keating, M. T. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280, 750–752 (1998).
  Article ADS CAS PubMed Google Scholar
• Mogensen, J. et al. α-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J. Clin. Invest. 103, R39–R43 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Thierfelder, L. et al. α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77, 701–712 (1994).
  Article PubMed Google Scholar
• Carlsson, L. & Thornell, L.-E. Desmin-related myopathies in mice and man. Acta Physiol. Scand. 171, 341–348 (2001).
  Article CAS PubMed Google Scholar
• Hack, A. A., Groh, M. E. & McNally, E. M. Sarcoglycans in muscular dystrophy. Microsc. Res. Tech. 48, 167–180 (2000).
  Article CAS PubMed Google Scholar
• Sakamoto, A. et al. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, δ-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc. Natl Acad. Sci. USA 94, 13873–13878 (1997).
  Article ADS CAS PubMed PubMed Central Google Scholar
• Coral-Vazquez, R. et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 98, 465–474 (1999).
  Article CAS PubMed Google Scholar
• Kass S. et al. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1. Nature Genet. 7, 546–551 (1994).
  Article CAS PubMed Google Scholar
• Jung, M. et al. Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14–q22. Am. J. Hum. Genet. 65, 1068–1077 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Olson, T. M. & Keating, M. T. Mapping a cardiomyopathy locus to chromosome 3p22–p25. J. Clin. Invest. 97, 528–532 (1996).
  Article CAS PubMed PubMed Central Google Scholar
• Messina, D. N., Speer, M. C., Pericak-Vance, M. A. & McNally, E. M. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am. J. Hum. Genet. 61, 909–917 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Fatkin, D. et al. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutant in the α-cardiac myosin heavy chain gene. J. Clin. Invest. 103, 147–153 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Brodsky, G. L. et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101, 473–476 (2000).
  Article CAS PubMed Google Scholar
• Berko, B. A. & Swift, M. X-linked dilated cardiomyopathy. N. Engl. J. Med. 316, 1186–1191 (1987).
  Article CAS PubMed Google Scholar
• Towbin, J. A. et al. X-linked dilated cardiomyopathy (XLCM): molecular genetic evidence of linkage to the Duchenne muscular dystrophy gene at the Xp21 locus. Circulation 87, 1854–1865 (1993).
  Article CAS PubMed Google Scholar
• Muntoni, F. et al. Brief report: deletion of the dystrophin muscle-specific promoter region associated with X-linked dilated cardiomyopathy. N. Engl. J. Med. 329, 921–925 (1993).
  Article CAS PubMed Google Scholar
• Hoffman, E. P., Brown, R. H. & Kunkel, L. M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919–928 (1987).
  Article CAS PubMed Google Scholar
• Meng, H., Leddy, J. J., Frank, J., Holland, P. & Tuana, B. S. The association of cardiac dystrophin with myofibrils/z-discs regions in cardiac muscle suggests a novel role in the contractile apparatus. J. Biol. Chem. 271, 12364–12371 (1996).
  Article CAS PubMed Google Scholar
• Kaprielian, R. R., Stevenson, S., Rothery, S. M., Cullen, M. J. & Severs, N. J. Distinct patterns of dystrophin organization in myocyte sarcolemma and transverse tubules of normal and diseased human myocardium. Circulation 101, 2586–2594 (2000).
  Article CAS PubMed Google Scholar
• Campbell, K. P. Three muscular dystrophies: loss of cytoskeleton–extracellular matrix linkage. Cell 80, 675–679 (1995).
  Article CAS PubMed Google Scholar
• Chang, W. J. et al. Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. Proc. Natl Acad. Sci. USA 93, 9142–9147 (1996).
  Article ADS CAS PubMed PubMed Central Google Scholar
• Cox, G. F. & Kunkel, L. M. Dystrophies and heart disease. Curr. Opin. Cardiol. 12, 329–343 (1997).
  Article CAS PubMed Google Scholar
• Allamand, V. & Campbell, K. P. Animal models for muscular dystrophy: valuable tools for the development of therapies. Hum. Mol. Genet. 9, 2459–2467 (2000).
  Article CAS PubMed Google Scholar
• Heydemann, A., Wheeler, M. T. & McNally, E. M. Cardiomyopathy in animal models of muscular dystrophy. Curr. Opin. Cardiol. 16, 211–217 (2001).
  Article CAS PubMed Google Scholar
• Petrof, B. J., Shrager, J. B., Stedman, H. H., Kelly, A. M. & Sweeny, H. L. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc. Natl Acad. Sci. USA 90, 3710–3714 (1993).
  Article ADS CAS PubMed PubMed Central Google Scholar
• Towbin, J. A. The role of cytoskeletal proteins in cardiomyopathies. Curr. Opin. Cell Biol. 10, 131–139 (1998).
  Article CAS PubMed Google Scholar
• Bowles, N. E., Bowles, K. R. & Towbin, J. A. The “Final Common Pathway” hypothesis and inherited cardiovascular disease: the role of cytoskeletal proteins in dilated cardiomyopathy. Herz 25, 168–175 (2000).
  Article CAS PubMed Google Scholar
• Barth, P. G. et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J. Neurol. Sci. 62, 327–355 (1983).
  Article CAS PubMed Google Scholar
• Kelley, R. I. et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J. Pediatr. 119, 738–747 (1991).
  Article CAS PubMed Google Scholar
• Bione, S. et al. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nature Genet. 12, 385–389 (1996).
  Article CAS PubMed Google Scholar
• D'Adamo, P. et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am. J. Hum. Genet. 61, 862–867 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Bleyl, S. B. et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am. J. Hum. Genet. 61, 868–872 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Arber, S. et al. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell 88, 393–403 (1997).
  Article CAS PubMed Google Scholar
• Badorff, C. et al. Enteroviral protease 2A cleaves dystrophin's evidence of cytoskeletal disruption in an acquired cardiomyopathy. Nature Med. 5, 320–326 (1999).
  Article CAS PubMed Google Scholar
• Maron, B. J. Hypertrophic cardiomyopathy. Lancet 350, 127–133 (1997).
  Article CAS PubMed Google Scholar
• Jarcho, J. A. et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N. Engl. J. Med. 321, 1372–1378 (1989).
  Article CAS PubMed Google Scholar
• Towbin, J. A. Molecular genetics of hypertrophic cardiomyopathy. Curr. Cardiol. Rep. 2, 134–140 (2000).
  Article CAS PubMed Google Scholar
• Thierfelder, L. et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc. Natl Acad. Sci. USA 90, 6270–6274 (1993).
  Article ADS CAS PubMed PubMed Central Google Scholar
• Mann, C. J. et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc. Natl Acad. Sci. USA 98, 42–47 (2001).
  ADS CAS PubMed Google Scholar
• Ahmad, A., Brinson, M., Hodges, B. L., Chamberlain, J. S. & Amalfitano, A. Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophy. Hum. Mol. Genet. 9, 2507–2515 (2000).
  Article CAS PubMed Google Scholar
• Nowak, K. J. et al. Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genet. 23, 208–212 (1999).
  Article CAS PubMed Google Scholar
• Ichida, F. et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103, 1256–1263 (2001).
  Article CAS PubMed Google Scholar
• Dalloz, F., Osinska, H. & Robbins, J. Manipulating the contractile apparatus: genetically defined animal models of cardiovascular disease. J. Mol. Cell. Cardiol. 33, 9–25 (2001).
  Article CAS PubMed Google Scholar
• Fatkin, D. et al. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the α-cardiac myosin heavy chain gene. J. Clin. Invest. 103, 147–153 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Marian, A. J. et al. A transgenic rabbit model for human hypertrophic cardiomyopathy. J. Clin. Invest. 104, 1683–1692 (1999).
  Article ADS CAS PubMed PubMed Central Google Scholar
• Kittleson, M. D. et al. Familial hypertrophic cardiomyopathy in Main Coon cats. An animal model of human disease. Circulation 99, 3172–3180 (1999).
  Article CAS PubMed Google Scholar
• Shou, W. et al. Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. Nature 391, 489–492 (1998).
  Article ADS CAS PubMed Google Scholar
• Grady, R. M. et al. Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nature Cell Biol. 1, 215–220 (1999).
  Article CAS PubMed Google Scholar
• Clemens, P. R. et al. In vivo muscle gene transfer of full-length dystrophin with an adenoviral vector that lacks all viral genes. Gene Ther. 3, 965–972 (1996).
  CAS PubMed Google Scholar
• Braunwald, E. & Bristow, M. R. Congestive heart failure: fifty years of progress. Circulation 102, IV-14–IV-23 (2000).
  Article CAS Google Scholar
• Deng, M. C. et al. Mechanical circulatory support for advanced heart failure. Effect of patient selection or outcome. Circulation 103, 231–237 (2001).
  Article CAS PubMed Google Scholar
• Stetson, S. J. et al. Evidence for reversible dystrophin abnormalities in patients with non-familial dilated cardiomyopathies: observations in patients treated with long-term mechanical support. Circulation 102, II–132 (2000).
  Google Scholar
• Cohn, R. D. et al. Prevention of cardiomyopathy in mouse models lacking smooth muscle sarcoglycan-sarcospan complex. J. Clin. Invest. 107, R1–R7 (2001).
  Article CAS PubMed PubMed Central Google Scholar
• Towbin, J. A. & Bowles, N. E. Sarcoglycan, the heart, and skeletal muscles: new treatment, old drug? J. Clin. Invest. 107, 154–154 (2001).
  Article Google Scholar