The Genetic Basis for Cardiomyopathy from Mutation Identification to Mechanistic Paradigms

We are grateful to Steven DePalma and Susanne Bartlett for their invaluable assistance in preparation of figures for this review. This work was supported by grants from N.H.L.B.I. and the Howard Hughes Medical Institute.

[1]  K. Chien,et al.  Complexity in simplicity: monogenic disorders and complex cardiomyopathies. , 1999, The Journal of clinical investigation.

[2]  Frederick J. Schoen,et al.  A Mouse Model of Familial Hypertrophic Cardiomyopathy , 1996, Science.

[3]  C. Reggiani,et al.  Molecular diversity of myofibrillar proteins: gene regulation and functional significance. , 1996, Physiological reviews.

[4]  F. Muntoni,et al.  Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy , 1999, Nature Genetics.

[5]  F J Schoen,et al.  Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene. , 1999, The Journal of clinical investigation.

[6]  M. Martone,et al.  Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy , 1999, Nature Medicine.

[7]  Jason T. Su,et al.  Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. , 1997, Circulation.

[8]  M Hiroe,et al.  Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. , 1999, Biochemical and biophysical research communications.

[9]  G. Blobel,et al.  The nuclear envelope lamina is reversibly depolymerized during mitosis , 1980, Cell.

[10]  L. Mestroni,et al.  Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. , 1999, Journal of the American College of Cardiology.

[11]  H. Katus,et al.  Frequency and phenotypes of familial dilated cardiomyopathy. , 1998, Journal of the American College of Cardiology.

[12]  T. Hewett,et al.  A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. , 1998, The Journal of clinical investigation.

[13]  J. Mackrill Protein-protein interactions in intracellular Ca2+-release channel function , 1999 .

[14]  I. Rayment,et al.  Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle , 1996, Nature Genetics.

[15]  A J Marian,et al.  A transgenic rabbit model for human hypertrophic cardiomyopathy. , 1999, The Journal of clinical investigation.

[16]  J. Seidman,et al.  Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. , 2000, Circulation research.

[17]  M. Matsuzaki,et al.  Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy , 1997, Nature Genetics.

[18]  J. Seidman,et al.  Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. , 1992, The Journal of clinical investigation.

[19]  N. Gusev,et al.  Troponin: structure, properties, and mechanism of functioning. , 1999, Biochemistry. Biokhimiia.

[20]  M. Desai,et al.  Management of hypertrophic cardiomyopathy. , 2022, Heart disease and stroke : a journal for primary care physicians.

[21]  K. Campbell,et al.  Disruption of the Sarcoglycan–Sarcospan Complex in Vascular Smooth Muscle A Novel Mechanism for Cardiomyopathy and Muscular Dystrophy , 1999, Cell.

[22]  J. Beckmann,et al.  Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11 , 1993, Nature Genetics.

[23]  J. Seidman,et al.  Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. , 2000, Circulation.

[24]  Minoru Hongo,et al.  MLP-Deficient Mice Exhibit a Disruption of Cardiac Cytoarchitectural Organization, Dilated Cardiomyopathy, and Heart Failure , 1997, Cell.

[25]  Roberto Dominguez,et al.  Crystal Structure of a Vertebrate Smooth Muscle Myosin Motor Domain and Its Complex with the Essential Light Chain Visualization of the Pre–Power Stroke State , 1998, Cell.

[26]  J. Metzger,et al.  Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins. , 1999, The Journal of clinical investigation.

[27]  M. Laakso,et al.  The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. , 1998, Journal of the American College of Cardiology.

[28]  T. Sasazuki,et al.  Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. , 1994, Biochemical and biophysical research communications.

[29]  J. Nagle,et al.  Missense mutations in desmin associated with familial cardiac and skeletal myopathy , 1998, Nature Genetics.

[30]  J. Seidman,et al.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. , 1999, The New England journal of medicine.

[31]  Jeffrey Robbins,et al.  A Calcineurin-Dependent Transcriptional Pathway for Cardiac Hypertrophy , 1998, Cell.

[32]  M. Burch,et al.  Hypertrophic cardiomyopathy. , 1994, Archives of disease in childhood.

[33]  P. Burch,et al.  Desmin mutation responsible for idiopathic dilated cardiomyopathy. , 1999, Circulation.

[34]  J. Towbin,et al.  Etiologies of cardiomyopathy and heart failure , 1999, Nature Medicine.

[35]  J. Gardin,et al.  Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. , 1995, Circulation.

[36]  J. Seidman,et al.  Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. , 1996, The Journal of clinical investigation.

[37]  L. Leinwand,et al.  Report of the National Heart, Lung, and Blood Institute Special Emphasis Panel on Heart Failure Research. , 1997, Circulation.

[38]  S. Manilal,et al.  Autosomal dominant Emery–Dreifuss muscular dystrophy: a new family with late diagnosis , 2002, Neuromuscular Disorders.

[39]  F. Baas,et al.  Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). , 2000, Human molecular genetics.

[40]  J. Seidman,et al.  Homozygous Mutation in Cardiac Troponin T: Implications for Hypertrophic Cardiomyopathy , 2000, Circulation.

[41]  S. Gregory,et al.  LMNA, encoding lamin A/C, is mutated in partial lipodystrophy , 2000, Nature Genetics.

[42]  S. Solomon,et al.  Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. , 1989, The New England journal of medicine.

[43]  G. Krohne,et al.  The nuclear lamins. A multigene family of proteins in evolution and differentiation. , 1986, Experimental cell research.

[44]  J. Seidman,et al.  A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[45]  B. Lorell,et al.  Endothelin and angiotensin II stimulation of Na+-H+ exchange is impaired in cardiac hypertrophy. , 1997, The Journal of clinical investigation.

[46]  Ivan Rayment,et al.  Three-dimensional atomic model of F-actin decorated with Dictyostelium myosin S1 , 1993, Nature.

[47]  I. Rayment,et al.  Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[48]  R A Milligan,et al.  Structure of the actin-myosin complex and its implications for muscle contraction. , 1993, Science.

[49]  K. Campbell,et al.  Muscular dystrophies and the dystrophin-glycoprotein complex. , 1997, Current opinion in neurology.

[50]  U Aebi,et al.  Nuclear lamins: their structure, assembly, and interactions. , 1998, Journal of structural biology.

[51]  A. Børglum,et al.  α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy , 1999 .

[52]  M. Martone,et al.  Chronic Phospholamban–Sarcoplasmic Reticulum Calcium ATPase Interaction Is the Critical Calcium Cycling Defect in Dilated Cardiomyopathy , 1999, Cell.

[53]  James O. Mudd,et al.  An abnormal Ca2+ response in mutant sarcomere protein–mediated familial hypertrophic cardiomyopathy , 2000 .

[54]  T. Hewett,et al.  A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. , 1998, The Journal of clinical investigation.

[55]  Y. Hayashizaki,et al.  Identification of the Syrian hamster cardiomyopathy gene. , 1997, Human molecular genetics.

[56]  J. Seidman,et al.  A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3 , 1993, Nature Genetics.

[57]  Michael Whittaker,et al.  A 35-Å movement of smooth muscle myosin on ADP release , 1995, Nature.

[58]  M. Entman,et al.  Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. , 1998, The Journal of clinical investigation.

[59]  L. Mestroni,et al.  Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. , 1999, Journal of the American College of Cardiology.

[60]  L. Mestroni,et al.  Clinical StudiesFamilial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity☆ , 1999 .

[61]  Y. Capetanaki,et al.  Disruption of muscle architecture and myocardial degeneration in mice lacking desmin , 1996, The Journal of cell biology.

[62]  Familial Dilated Cardiomyopathy , 1999 .

[63]  D. Kass,et al.  Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. , 1999, The Journal of clinical investigation.

[64]  M. Böhm,et al.  Alteration of intracellular Ca2(+)-handling and receptor regulation in hypertensive cardiac hypertrophy: insights from Ren2-transgenic rats. , 1998, Cardiovascular research.

[65]  J. Towbin,et al.  Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. , 1994, Human molecular genetics.

[66]  T. Sasazuki,et al.  Possible Gene Effect of a Mutant Cardiac β-Myosin Heavy Chain Gene on the Clinical Expression of Familial Hypertrophic Cardiomyopathy , 1994 .