FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 330:913-919 March 31, 1994 Number 13 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Cardiomyopathy is an important cause of morbidity and mortality throughout the world in children and adults. In contrast to secondary causes of cardiomyopathy, such as hypertension and ischemic heart disease, the causes and pathogenesis of primary myocardial disease are poorly understood. The term "idiopathic cardiomyopathy" is therefore often used to describe primary myocardial disease. The annual incidence of idiopathic dilated cardiomyopathy in the United States and Europe is estimated to range from 2 to 8 cases per 100,000¹. Overall, the survival of patients with idiopathic cardiomyopathy is poor (only 50 to 60 percent at two years).

Familial analyses have . . . [Full Text of this Article]

Disorders of Cardiac Energy Metabolism

Cardiomyopathies Due to Inborn Errors of Fatty-Acid Oxidation

            The Fatty-Acid -Oxidation Pathway and Specific Defects Causing Cardiomyopathy

            Clinical Features of the Inborn Errors of Fatty-Acid Oxidation

            Genetic and Molecular Bases of Defects in Fatty-Acid Oxidation

Disorders of Mitochondrial Oxidative Phosphorylation

            Clinical Features

            Genetic and Molecular Bases of Defects in Oxidative Phosphorylation Causing Cardiomyopathy

Abnormalities of Myocardial Contractile and Structural Proteins

Familial Hypertrophic Cardiomyopathy

            Clinical Features

            Genetic and Molecular Studies of Familial Hypertrophic Cardiomyopathy

X-Linked Muscular Dystrophies

            Clinical Features

            Genetic and Molecular Bases of Duchenne's and Becker's Muscular Dystrophies

Summary and Conclusions

Source Information

From the Departments of Medicine (D.P.K.), Pediatrics (A.W.S.), and Molecular Biology and Pharmacology (D.P.K., A.W.S.), Washington University School of Medicine, St. Louis.

Address reprint requests to Dr. Kelly at the Cardiovascular Division, Washington University School of Medicine, 660 S. Euclid Ave., Box 8086, St. Louis, MO 63110.

References

This article has been cited by other articles:

• El Kebbaj, Z., Andreoletti, P., Mountassif, D., Kabine, M., Schohn, H., Dauca, M., Latruffe, N., El Kebbaj, M. S., Cherkaoui-Malki, M. (2009). Differential Regulation of Peroxisome Proliferator-Activated Receptor (PPAR)-{alpha}1 and Truncated PPAR{alpha}2 as an Adaptive Response to Fasting in the Control of Hepatic Peroxisomal Fatty Acid {beta}-Oxidation in the Hibernating Mammal. Endocrinology 150: 1192-1201 [Abstract] [Full Text]  
• van Bilsen, M., van Nieuwenhoven, F. A., van der Vusse, G. J. (2009). Metabolic remodelling of the failing heart: beneficial or detrimental?. Cardiovasc Res 81: 420-428 [Abstract] [Full Text]  
• Harmancey, R., Wilson, C. R., Taegtmeyer, H. (2008). Adaptation and Maladaptation of the Heart in Obesity. Hypertension 52: 181-187 [Full Text]  
• Lai, L., Leone, T. C., Zechner, C., Schaeffer, P. J., Kelly, S. M., Flanagan, D. P., Medeiros, D. M., Kovacs, A., Kelly, D. P. (2008). Transcriptional coactivators PGC-1{alpha} and PGC-l{beta} control overlapping programs required for perinatal maturation of the heart. Genes Dev. 22: 1948-1961 [Abstract] [Full Text]  
• Schwenk, R. W., Luiken, J. J.F.P., Bonen, A., Glatz, J. F.C. (2008). Regulation of sarcolemmal glucose and fatty acid transporters in cardiac disease. Cardiovasc Res 79: 249-258 [Abstract] [Full Text]  
• Rodriguez-Calvo, R., Serrano, L., Barroso, E., Coll, T., Palomer, X., Camins, A., Sanchez, R. M., Alegret, M., Merlos, M., Pallas, M., Laguna, J. C., Vazquez-Carrera, M. (2007). Peroxisome Proliferator-Activated Receptor {alpha} Down-Regulation Is Associated With Enhanced Ceramide Levels in Age-Associated Cardiac Hypertrophy. Journals of Gerontology Series A: Biological Sciences and Medical Sciences 62: 1326-1336 [Abstract] [Full Text]  
• Takahashi, R., Asai, T., Murakami, H., Murakami, R., Tsuzuki, M., Numaguchi, Y., Matsui, H., Murohara, T., Okumura, K. (2007). Pressure Overload-Induced Cardiomyopathy in Heterozygous Carrier Mice of Carnitine Transporter Gene Mutation. Hypertension 50: 497-502 [Abstract] [Full Text]  
• Lopaschuk, G. D., Folmes, C. D.L., Stanley, W. C. (2007). Cardiac Energy Metabolism in Obesity. Circ. Res. 101: 335-347 [Abstract] [Full Text]  
• Sparagna, G. C., Chicco, A. J., Murphy, R. C., Bristow, M. R., Johnson, C. A., Rees, M. L., Maxey, M. L., McCune, S. A., Moore, R. L. (2007). Loss of cardiac tetralinoleoyl cardiolipin in human and experimental heart failure. J. Lipid Res. 48: 1559-1570 [Abstract] [Full Text]  
• Finck, B. N., Kelly, D. P. (2007). Peroxisome Proliferator-Activated Receptor {gamma} Coactivator-1 (PGC-1) Regulatory Cascade in Cardiac Physiology and Disease. Circulation 115: 2540-2548 [Full Text]  
• Yang, J., Sambandam, N., Han, X., Gross, R. W., Courtois, M., Kovacs, A., Febbraio, M., Finck, B. N., Kelly, D. P. (2007). CD36 Deficiency Rescues Lipotoxic Cardiomyopathy. Circ. Res. 100: 1208-1217 [Abstract] [Full Text]  
• Finck, B. N. (2007). The PPAR regulatory system in cardiac physiology and disease. Cardiovasc Res 73: 269-277 [Abstract] [Full Text]  
• Towbin, J. A., Lowe, A. M., Colan, S. D., Sleeper, L. A., Orav, E. J., Clunie, S., Messere, J., Cox, G. F., Lurie, P. R., Hsu, D., Canter, C., Wilkinson, J. D., Lipshultz, S. E. (2006). Incidence, causes, and outcomes of dilated cardiomyopathy in children.. JAMA 296: 1867-1876 [Abstract] [Full Text]  
• Doege, H., Stahl, A. (2006). Protein-mediated Fatty Acid uptake: novel insights from in vivo models.. Physiology 21: 259-268 [Abstract] [Full Text]  
• Loichot, C., Jesel, L., Tesse, A., Tabernero, A., Schoonjans, K., Roul, G., Carpusca, I., Auwerx, J., Andriantsitohaina, R. (2006). Deletion of peroxisome proliferator-activated receptor-{alpha} induces an alteration of cardiac functions. Am. J. Physiol. Heart Circ. Physiol. 291: H161-H166 [Abstract] [Full Text]  
• Arany, Z., Novikov, M., Chin, S., Ma, Y., Rosenzweig, A., Spiegelman, B. M. (2006). Transverse aortic constriction leads to accelerated heart failure in mice lacking PPAR-{gamma} coactivator 1{alpha}. Proc. Natl. Acad. Sci. USA 103: 10086-10091 [Abstract] [Full Text]  
• Foldes, G., Vajda, S., Lako-Futo, Z., Sarman, B., Skoumal, R., Ilves, M., deChatel, R., Karadi, I., Toth, M., Ruskoaho, H., Lepran, I. (2006). Distinct modulation of angiotensin II-induced early left ventricular hypertrophic gene programming by dietary fat type. J. Lipid Res. 47: 1219-1226 [Abstract] [Full Text]  
• Asai, T., Okumura, K., Takahashi, R., Matsui, H., Numaguchi, Y., Murakami, H., Murakami, R., Murohara, T. (2006). Combined therapy with PPAR{alpha} agonist and L-carnitine rescues lipotoxic cardiomyopathy due to systemic carnitine deficiency. Cardiovasc Res 70: 566-577 [Abstract] [Full Text]  
• Exil, V. J., Gardner, C. D., Rottman, J. N., Sims, H., Bartelds, B., Khuchua, Z., Sindhal, R., Ni, G., Strauss, A. W. (2006). Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am. J. Physiol. Heart Circ. Physiol. 290: H1289-H1297 [Abstract] [Full Text]  
• Takahashi, R., Okumura, K., Asai, T., Hirai, T., Murakami, H., Murakami, R., Numaguchi, Y., Matsui, H., Ito, M., Murohara, T. (2005). Dietary fish oil attenuates cardiac hypertrophy in lipotoxic cardiomyopathy due to systemic carnitine deficiency. Cardiovasc Res 68: 213-223 [Abstract] [Full Text]  
• Van Gilst, M. R., Hadjivassiliou, H., Yamamoto, K. R. (2005). From The Cover: A Caenorhabditis elegans nutrient response system partially dependent on nuclear receptor NHR-49. Proc. Natl. Acad. Sci. USA 102: 13496-13501 [Abstract] [Full Text]  
• Stanley, W. C., Recchia, F. A., Lopaschuk, G. D. (2005). Myocardial Substrate Metabolism in the Normal and Failing Heart. Physiol. Rev. 85: 1093-1129 [Abstract] [Full Text]  
• Planavila, A., Laguna, J. C., Vazquez-Carrera, M. (2005). Nuclear Factor-{kappa}B Activation Leads to Down-regulation of Fatty Acid Oxidation during Cardiac Hypertrophy. J. Biol. Chem. 280: 17464-17471 [Abstract] [Full Text]  
• Planavila, A., Rodriguez-Calvo, R., Jove, M., Michalik, L., Wahli, W., Laguna, J. C., Vazquez-Carrera, M. (2005). Peroxisome proliferator-activated receptor {beta}/{delta} activation inhibits hypertrophy in neonatal rat cardiomyocytes. Cardiovasc Res 65: 832-841 [Abstract] [Full Text]  
• Chiu, H.-C., Kovacs, A., Blanton, R. M., Han, X., Courtois, M., Weinheimer, C. J., Yamada, K. A., Brunet, S., Xu, H., Nerbonne, J. M., Welch, M. J., Fettig, N. M., Sharp, T. L., Sambandam, N., Olson, K. M., Ory, D. S., Schaffer, J. E. (2005). Transgenic Expression of Fatty Acid Transport Protein 1 in the Heart Causes Lipotoxic Cardiomyopathy. Circ. Res. 96: 225-233 [Abstract] [Full Text]  
• Huss, J. M., Kelly, D. P. (2004). Nuclear Receptor Signaling and Cardiac Energetics. Circ. Res. 95: 568-578 [Abstract] [Full Text]  
• Yue, T.-l., Bao, W., Jucker, B. M., Gu, J.-l., Romanic, A. M., Brown, P. J., Cui, J., Thudium, D. T., Boyce, R., Burns-Kurtis, C. L., Mirabile, R. C., Aravindhan, K., Ohlstein, E. H. (2003). Activation of Peroxisome Proliferator-Activated Receptor-{alpha} Protects the Heart From Ischemia/Reperfusion Injury. Circulation 108: 2393-2399 [Abstract] [Full Text]  
• Exil, V. J., Roberts, R. L., Sims, H., McLaughlin, J. E., Malkin, R. A., Gardner, C. D., Ni, G., Rottman, J. N., Strauss, A. W. (2003). Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice. Circ. Res. 93: 448-455 [Abstract] [Full Text]  
• Takahashi, R., Okumura, K., Matsui, H., Saburi, Y., Kamiya, H., Matsubara, K., Asai, T., Ito, M., Murohara, T. (2003). Impact of {alpha}-tocopherol on cardiac hypertrophy due to energy metabolism disorder: the involvement of 1,2-diacylglycerol. Cardiovasc Res 58: 565-574 [Abstract] [Full Text]  
• Strauss, A., Lock, J. E. (2003). Pediatric Cardiomyopathy -- A Long Way to Go. NEJM 348: 1703-1705 [Full Text]  
• Saburi, Y., Okumura, K., Matsui, H., Hayashi, K., Kamiya, H., Takahashi, R., Matsubara, K., Ito, M. (2003). Changes in distinct species of 1,2-diacylglycerol in cardiac hypertrophy due to energy metabolic disorder. Cardiovasc Res 57: 92-100 [Abstract] [Full Text]  
• Kuznetsova, T., Staessen, J. A., Olszanecka, A., Ryabikov, A., Stolarz, K., Malyutina, S., Fagard, R., Kawecka-Jaszcz, K., Nikitin, Y. (2003). Maternal and Paternal Influences on Left Ventricular Mass of Offspring. Hypertension 41: 69-74 [Abstract] [Full Text]  
• de las Fuentes, L., Herrero, P., Peterson, L. R., Kelly, D. P., Gropler, R. J., Davila-Roman, V. G. (2003). Myocardial Fatty Acid Metabolism: Independent Predictor of Left Ventricular Mass in Hypertensive Heart Disease. Hypertension 41: 83-87 [Abstract] [Full Text]  
• Collier, T. L., Hwang, Y., Ramasamy, R., Sciacca, R. R., Hickey, K. T., Simpson, N. R., Bergmann, S. R. (2002). Synthesis and Initial Evaluation of 17-11C-Heptadecanoic Acid for Measurement of Myocardial Fatty Acid Metabolism. JNM 43: 1707-1714 [Abstract] [Full Text]  
• Ho, J. K., Duclos, R. I. Jr., Hamilton, J. A. (2002). Interactions of acyl carnitines with model membranes: a 13C-NMR study. J. Lipid Res. 43: 1429-1439 [Abstract] [Full Text]  
• Davila-Roman, V.i. G., Vedala, G., Herrero, P., de las Fuentes, L., Rogers, J. G., Kelly, D. P., Gropler, R. J. (2002). Altered myocardial fatty acid and glucose metabolism in idiopathic dilated cardiomyopathy. J Am Coll Cardiol 40: 271-277 [Abstract] [Full Text]  
• Marin-Garcia, J., Goldenthal, M. J. (2002). Fatty acid metabolism in cardiac failure: biochemical, genetic and cellular analysis. Cardiovasc Res 54: 516-527 [Full Text]  
• Kelly, D. P. (2002). Peroxisome Proliferator-Activated Receptor {alpha} as a Genetic Determinant of Cardiac Hypertrophic Growth: Culprit or Innocent Bystander?. Circulation 105: 1025-1027 [Full Text]  
• FINCK, B.N., LEHMAN, J.J., BARGER, P.M., KELLY, D.P. (2002). Regulatory Networks Controlling Mitochondrial Energy Production in the Developing, Hypertrophied, and Diabetic Heart. Cold Spring Harb Symp Quant Biol 67: 371-382 [Abstract]  
• BONNET, D, RUSTIN, P, ROTIG, A, LE BIDOIS, J, MUNNICH, A, VOUHE, P, KACHANER, J, SIDI, D (2001). Heart transplantation in children with mitochondrial cardiomyopathy. Heart 86: 570-573 [Full Text]  
• Bjorkegren, J., Veniant, M., Kim, S. K., Withycombe, S. K., Wood, P. A., Hellerstein, M. K., Neese, R. A., Young, S. G. (2001). Lipoprotein Secretion and Triglyceride Stores in the Heart. J. Biol. Chem. 276: 38511-38517 [Abstract] [Full Text]  
• Zahabi, A., Deschepper, C. F. (2001). Long-chain fatty acids modify hypertrophic responses of cultured primary neonatal cardiomyocytes. J. Lipid Res. 42: 1325-1330 [Abstract] [Full Text]  
• Kataoka, K., Nohara, R., Hosokawa, R., Hirai, T., Okuda, K., Li-Guang, C., Fujibayashi, Y., Fujita, M., Konishi, J., Sasayama, S. (2001). Myocardial Lipid Metabolism in Compensated and Advanced Stages of Heart Failure: Evaluation by Canine Pacing Model with BMIPP. JNM 42: 124-129 [Abstract] [Full Text]  
• Marin-Garcia, J., Goldenthal, M. J, Moe, G. W (2001). Mitochondrial pathology in cardiac failure. Cardiovasc Res 49: 17-26 [Full Text]  
• Stenbit, A. E., Katz, E. B., Chatham, J. C., Geenen, D. L., Factor, S. M., Weiss, R. G., Tsao, T.-S., Malhotra, A., Chacko, V. P., Ocampo, C., Jelicks, L. A., Charron, M. J. (2000). Preservation of glucose metabolism in hypertrophic GLUT4-null hearts. Am. J. Physiol. Heart Circ. Physiol. 279: H313-H318 [Abstract] [Full Text]  
• Helton, E., Darragh, R., Francis, P., Fricker, F. J., Jue, K., Koch, G., Mair, D., Pierpont, M. E., Prochazka, J. V., Linn, L. S., Winter, S. C. (2000). Metabolic Aspects of Myocardial Disease and a Role for L-Carnitine in the Treatment of Childhood Cardiomyopathy. Pediatrics 105: 1260-1270 [Abstract] [Full Text]  
• Stanley, W. C, Hoppel, C. L (2000). Mitochondrial dysfunction in heart failure: potential for therapeutic interventions?. Cardiovasc Res 45: 805-806 [Full Text]  
• Jarreta, D., Orus, J., Barrientos, A., Miro, O., Roig, E., Heras, M., Moraes, C. T, Cardellach, F., Casademont, J. (2000). Mitochondrial function in heart muscle from patients with idiopathic dilated cardiomyopathy. Cardiovasc Res 45: 860-865 [Abstract] [Full Text]  
• van der Vusse, G. J, van Bilsen, M., Glatz, J. F.C (2000). Cardiac fatty acid uptake and transport in health and disease. Cardiovasc Res 45: 279-293 [Abstract] [Full Text]  
• Bonnet, D., Martin, D., Pascale de Lonlay, , Villain, E., Jouvet, P., Rabier, D., Brivet, M., Saudubray, J.-M. (1999). Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children. Circulation 100: 2248-2253 [Abstract] [Full Text]  
• Leone, T. C., Weinheimer, C. J., Kelly, D. P. (1999). A critical role for the peroxisome proliferator-activated receptor alpha  (PPARalpha ) in the cellular fasting response: The PPARalpha -null mouse as a model of fatty acid oxidation disorders. Proc. Natl. Acad. Sci. USA 96: 7473-7478 [Abstract] [Full Text]  
• BINAS, B., DANNEBERG, H., McWHIR, J., MULLINS, L., CLARK, A. J. (1999). Requirement for the heart-type fatty acid binding protein in cardiac fatty acid utilization. FASEB J. 13: 805-812 [Abstract] [Full Text]  
• Mathur, A., Sims, H. F., Gopalakrishnan, D., Gibson, B., Rinaldo, P., Vockley, J., Hug, G., Strauss, A. W. (1999). Molecular Heterogeneity in Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Causing Pediatric Cardiomyopathy and Sudden Death. Circulation 99: 1337-1343 [Abstract] [Full Text]  
• Jahns, R., Boivin, V., Siegmund, C., Inselmann, G., Lohse, M. J., Boege, F. (1999). Autoantibodies Activating Human ß1-Adrenergic Receptors Are Associated With Reduced Cardiac Function in Chronic Heart Failure. Circulation 99: 649-654 [Abstract] [Full Text]  
• Nelson, S. D., Sparks, E. A., Graber, H. L., Boudoulas, H., Mehdirad, A. A., Baker, P., Wooley, C. (1998). Clinical characteristics of sudden death victims in heritable (chromosome 1p1-1q1) conduction and myocardial disease. J Am Coll Cardiol 32: 1717-1723 [Abstract] [Full Text]  
• Dalekos, G N, Achenbach, K, Christodoulou, D, Liapi, G K, Zervou, E K, Sideris, D A, Tsianos, E V (1998). Idiopathic dilated cardiomyopathy: lack of association with hepatitis C virus infection. Heart 80: 270-275 [Abstract] [Full Text]  
• Hamilton, J. A. (1998). Fatty acid transport: difficult or easy?. J. Lipid Res. 39: 467-481 [Abstract] [Full Text]  
• Ruiz-Lozano, P, Smith, S., Perkins, G, Kubalak, S., Boss, G., Sucov, H., Evans, R., Chien, K. (1998). Energy deprivation and a deficiency in downstream metabolic target genes during the onset of embryonic heart failure in RXRalpha-/- embryos. Development 125: 533-544 [Abstract]  
• Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyo-oka, T., Hanaoka, F. (1997). Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta -sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex. Proc. Natl. Acad. Sci. USA 94: 13873-13878 [Abstract] [Full Text]  
• Sack, M. N., Disch, D. L., Rockman, H. A., Kelly, D. P. (1997). A role for Sp and nuclear receptor transcription factors in a cardiac hypertrophic growth program. Proc. Natl. Acad. Sci. USA 94: 6438-6443 [Abstract] [Full Text]  
• Sack, M. N., Rader, T. A., Park, S., Bastin, J., McCune, S. A., Kelly, D. P. (1996). Fatty Acid Oxidation Enzyme Gene Expression Is Downregulated in the Failing Heart. Circulation 94: 2837-2842 [Abstract] [Full Text]  
• Schwartz, M. L., Cox, G. F., Lin, A. E., Korson, M. S., Perez-Atayde, A., Lacro, R. V., Lipshultz, S. E. (1996). Clinical Approach to Genetic Cardiomyopathy in Children. Circulation 94: 2021-2038 [Abstract] [Full Text]  
• Winter, S., Jue, K., Prochazka, J., Francis, P., Hamilton, W., Linn, L., Helton, E. (1995). The Role of L-Carnitine in Pediatric Cardiomyopathy. J Child Neurol 10: 2S45-2S51 [Abstract]  
• Marian, A.J., Roberts, R. (1995). Recent Advances in the Molecular Genetics of Hypertrophic Cardiomyopathy. Circulation 92: 1336-1347 [Full Text]  
• Payne, R. M., Johnson, M. C., Grant, J. W., Strauss, A. W. (1995). Toward a Molecular Understanding of Congenital Heart Disease. Circulation 91: 494-504 [Abstract] [Full Text]  
• Dec, G. W., Fuster, V. (1994). Idiopathic Dilated Cardiomyopathy. NEJM 331: 1564-1575 [Full Text]  
• Dietz, H. C., Pyeritz, R. E. (1994). Molecular Biology -- To the Heart of the Matter. NEJM 330: 930-932 [Full Text]  
• Listenberger, L. L., Ory, D. S., Schaffer, J. E. (2001). Palmitate-induced Apoptosis Can Occur through a Ceramide-independent Pathway. J. Biol. Chem. 276: 14890-14895 [Abstract] [Full Text]  
• Jamshidi, Y., Montgomery, H. E., Hense, H.-W., Myerson, S. G., Torra, I. P., Staels, B., World, M. J., Doering, A., Erdmann, J., Hengstenberg, C., Humphries, S. E., Schunkert, H., Flavell, D. M. (2002). Peroxisome Proliferator-Activated Receptor {alpha} Gene Regulates Left Ventricular Growth in Response to Exercise and Hypertension. Circulation 105: 950-955 [Abstract] [Full Text]