Avances en miocardiopatía dilatada idiopática: del genotipo al fenotipo clínico

Revista Española de Cardiología Suplementos - Tập 7 - Trang 2F-13F - 2007
Lorenzo Monserrat1,2, Manuel Hermida-Prieto1,2, Alfonso Castro-Beiras1,2
1Complejo Hospitalario Universitario Juan Canalejo. A Coruña. España
2Instituto de Ciencias de la Salud de la Universidad de A Coruña. España

Tài liệu tham khảo

Richardson, 1996, Report of the 1995 World Health Organization/ Internacional Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies, Circulation, 93, 841, 10.1161/01.CIR.93.5.841 Mestroni, 1999, Guidelines for the study of familial dilated cardiomyopathies, Eur Heart J, 20, 93, 10.1053/euhj.1998.1145 Michels, 1992, The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy, N Engl J Med, 326, 77, 10.1056/NEJM199201093260201 Keeling, 1995, Familial dilated cardiomyopathy in the United Kingdom, Br Heart J, 73, 417, 10.1136/hrt.73.5.417 McKenna, 1997, Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution, Heart, 77, 549, 10.1136/hrt.77.6.549 Grünig, 1998, Frequency and phenotypes of familial dilated cardiomyopathy, J Am Coll Cardiol, 31, 186, 10.1016/S0735-1097(97)00434-8 Baig, 1998, Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease, J Am Coll Cardiol, 31, 195, 10.1016/S0735-1097(97)00433-6 Mestroni, 1999, Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity, J Am Coll Cardiol, 34, 181, 10.1016/S0735-1097(99)00172-2 Monserrat, 2002, Miocardiopatía dilatada familiar en pacientes trasplantados por miocardiopatía dilatada idiopática, Rev Esp Cardiol, 55, 725, 10.1016/S0300-8932(02)76691-8 Michels, 2003, Progression of familial and non-familial dilated cardiomyopathy: long term follow up, Heart, 89, 757, 10.1136/heart.89.7.757 Burkett, 2005, Clinical and genetic issues in familial dilated cardiomyopathy, J Am Coll Cardiol, 45, 969, 10.1016/j.jacc.2004.11.066 Henry, 1980, Echocardiographic measurements in normal subjects from infancy to old age, Circulation, 62, 1054, 10.1161/01.CIR.62.5.1054 Mahon, 2005, Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease, Ann Intern Med, 143, 108, 10.7326/0003-4819-143-2-200507190-00009 Castro-Beiras, 2003, Miocardiopatía dilatada familiar: situación actual y beneficios clínicos de la investigación básica, Rev Esp Cardiol, 56, 7 Pathak, 1996, Molecular pathology of dilated cardiomyopathies, Curr Probl Cardiol, 21, 103, 10.1016/S0146-2806(96)80012-0 Mestroni, 1996, Genetic factors in dilated cardiomyopathy, Arch Mal Coeur Vaiss, 89, 15 Arbustini, 2000, Familial dilated cardiomyopathy: from clinical presentation to molecular genetics, Eur Heart J, 21, 1825, 10.1053/euhj.2000.2173 Arbustini, 2000, Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy, J Am Coll Cardiol, 35, 1760, 10.1016/S0735-1097(00)00650-1 Olson, 1998, Actin mutations in dilated cardiomyopathy, a heritable form of heart failure, Science, 280, 750, 10.1126/science.280.5364.750 Siu, 1999, Familial dilated cardiomyopathy locus maps to chromosome 2q31, Circulation, 99, 1022, 10.1161/01.CIR.99.8.1022 Ellinor, 2006, A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26, J Am Coll Cardiol, 48, 106, 10.1016/j.jacc.2006.01.079 Schonberger, 2005, A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1, Hum Genet, 118, 451, 10.1007/s00439-005-0064-2 Gerull, 2002, Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy, Nat Genet, 30, 201, 10.1038/ng815 Kamisago, 2000, Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy, N Engl J Med, 2, 103 Li, 2001, Novel cardiac troponin T mutations as a cause of familial dilated cardiomyopathy, Circulation, 104, 2188, 10.1161/hc4301.098285 Daehmlow, 2002, Novel mutations in sarcomeric protein genes in dilated cardiomyopathy, Biochem Biophys Res Commun, 298, 116, 10.1016/S0006-291X(02)02374-4 Konno, 2003, A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients, J Am Coll Cardiol, 41, 781, 10.1016/S0735-1097(02)02957-1 Mogensen, 2004, Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy, J Am Coll Cardiol, 44, 2033, 10.1016/j.jacc.2004.08.027 Murphy, 2004, Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy, Lancet, 363, 371, 10.1016/S0140-6736(04)15468-8 Stefanelli, 2004, Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity, Mol Genet Metab, 83, 188, 10.1016/j.ymgme.2004.04.013 Karkkainen, 2004, Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy, Eur J Heart Fail, 6, 861, 10.1016/j.ejheart.2004.04.017 Illard, 2005, Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene, Eur Heart J, 26, 794, 10.1093/eurheartj/ehi193 Carniel, 2005, Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy, Circulation, 112, 54, 10.1161/CIRCULATIONAHA.104.507699 Olson, 2001, Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy, J Mol Cell Cardiol, 33, 723, 10.1006/jmcc.2000.1339 Tsubata, 2000, Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy, J Clin Invest, 106, 655, 10.1172/JCI9224 Karkkainen, 2003, A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy, J Mol Med, 81, 795, 10.1007/s00109-003-0480-5 Taylor, 2005, Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy, Hum Mutat, 26, 566, 10.1002/humu.20250 Bonne, 1999, Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, Nat Genet, 21, 285, 10.1038/6799 Fatkin, 1999, Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease, N Engl J Med, 341, 1715, 10.1056/NEJM199912023412302 Brodsky, 2000, Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement, Circulation, 101, 473, 10.1161/01.CIR.101.5.473 Bonne, 2000, Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, Ann Neurol, 48, 170, 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J Genschel, 2001, A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy, Hum Mutat, 17, 154, 10.1002/1098-1004(200102)17:2<154::AID-HUMU11>3.0.CO;2-R Jakobs, 2001, Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease, J Card Fail, 7, 249, 10.1054/jcaf.2001.26339 Arbustini, 2002, Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease, J Am Coll Cardiol, 39, 981, 10.1016/S0735-1097(02)01724-2 Hershberger, 2002, A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation, Am Heart J, 144, 1081, 10.1067/mhj.2002.126737 Taylor, 2003, Natural history of dilated cardiomyopathy due to lamin A/C gene mutations, J Am Coll Cardiol, 41, 771, 10.1016/S0735-1097(02)02954-6 Sebillon, 2003, Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations, J Med Genet, 40, 560, 10.1136/jmg.40.8.560 Hermida-Prieto, 2004, Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations, Am J Cardiol, 94, 50, 10.1016/j.amjcard.2004.03.029 Karkkainen, 2004, A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy, Eur Heart J, 25, 885, 10.1016/j.ehj.2004.01.020 Sylvius, 2005, In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients, J Med Genet, 42, 639, 10.1136/jmg.2004.023283 Hayashi, 2004, Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy, J Am Coll Cardiol, 44, 2192, 10.1016/j.jacc.2004.08.058 Li, 1999, Desmin mutation responsible for idiopathic dilated cardiomyopathy, Circulation, 100, 461, 10.1161/01.CIR.100.5.461 Mohapatra, 2003, Mutations in the muscle LIM protein and alpha-actinin 2 genes in dilated cardiomyopathy and endocardial fibroelastosis, Mol Genet Metab, 80, 207, 10.1016/S1096-7192(03)00142-2 Knoll, 2002, The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy, Cell, 111, 943, 10.1016/S0092-8674(02)01226-6 Vatta, 2003, Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction, J Am Coll Cardiol, 42, 2014, 10.1016/j.jacc.2003.10.021 Arimura, 2004, A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C, J Biol Chem, 279, 6746, 10.1074/jbc.M311849200 Itoh-Satoh, 2002, Titin mutations as the molecular basis for dilated cardiomyopathy, Biochem Biophys Res Commun, 291, 385, 10.1006/bbrc.2002.6448 Matsumoto, 2005, Functional analysis of titin/connectin N2-B mutations found in cardiomypathy, J Muscle Res Cell Motil, 26, 367, 10.1007/s10974-005-9018-5 Olson, 2002, Metavinculin mutations alter actin interaction in dilated cardiomyopathy, Circulation, 105, 431, 10.1161/hc0402.102930 Maeda, 1997, Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin, Circulation, 95, 362, 10.1161/01.CIR.95.1.17 Vasile, 2006, Identificacion of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy, Mol Genet Metab, 87, 169, 10.1016/j.ymgme.2005.08.006 Inagaki, 2006, Alpha B-crystallin mutation in dilated cardiomyopathy, Biochem Biophys Res Commun, 342, 379, 10.1016/j.bbrc.2006.01.154 Bienengraeber, 2004, ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating, Nat Genet, 36, 382, 10.1038/ng1329 McNair, 2004, SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia, Circulation, 110, 2163, 10.1161/01.CIR.0000144458.58660.BB Olson, 2005, Sodium channel mutations and susceptibility to heart failure and atrial fibrillation, JAMA, 293, 447, 10.1001/jama.293.4.447 Schmitt, 2003, Dilated cardiomyopathy and heart failure caused by mutations in phospholamban, Science, 299, 1410, 10.1126/science.1081578 Haghighi, 2003, Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human, J Clin Invest, 111, 869, 10.1172/JCI17892 Haghighi, 2006, A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy, Proc Natl Acad Sci USA, 103, 1388, 10.1073/pnas.0510519103 Uzumcu, 2006, Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome, J Med Genet, 43, e5, 10.1136/jmg.2005.032904 Norgett, 2000, Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma, Hum Mol Genet, 9, 2761, 10.1093/hmg/9.18.2761 Bissler, 2002, Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle, Lab Invest, 82, 335, 10.1038/labinvest.3780427 Ichida, 2001, Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome, Circulation, 103, 1256, 10.1161/01.CIR.103.9.1256 D’Adamo, 1997, The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies, Am J Hum Genet, 61, 862, 10.1086/514886 Milasin, 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, 10.1093/hmg/5.1.73 Ortiz-López, 1997, Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy, Circulation, 95, 2434, 10.1161/01.CIR.95.10.2434 Ferlini, 1998, A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy, Am J Hum Genet, 63, 436, 10.1086/301952 Arbustini, 2000, Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy, J Am Coll Cardiol, 35, 1760, 10.1016/S0735-1097(00)00650-1 Shimizu, 2005, Gene mutations in adult Japanese patients with dilated cardiomyopathy, Circ J, 69, 150, 10.1253/circj.69.150 Feng, 2002, Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy, Mol Genet Metab, 77, 119, 10.1016/S1096-7192(02)00153-1 Feng, 2002, Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy, J Am Coll Cardiol, 40, 1120, 10.1016/S0735-1097(02)02126-5 Shin, 2000, A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy, Am J Hum Genet, 67, 1617, 10.1086/316896 Suomalainen, 1992, Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA, Lancet, 340, 1319, 10.1016/0140-6736(92)92496-3 Bohlega, 1996, Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy, Neurology, 46, 1329, 10.1212/WNL.46.5.1329 Grasso, 2001, The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy, Eur J Hum Genet, 9, 311, 10.1038/sj.ejhg.5200622 Davey, 2006, Mutations of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndromelike condition, J Med Genet, 43, 385, 10.1136/jmg.2005.036657 Mogensen, 1999, Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy, J Clin Invest, 103, R39, 10.1172/JCI6460 Priori, 2006, Role of genetic analyses in cardiology: Part I: mendelian diseases: cardiac channelopaties, Circulation, 113, 1130, 10.1161/CIRCULATIONAHA.105.563205 Raharjo, 2001, Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy, J Cell Sci, 114, 4447, 10.1242/jcs.114.24.4447 Muchir, 2000, Identification of mutations in the gene encoding lamins A/C in autosomal dominant muscular dystrophy with atrioventricular conduction disturbances (LGMD1B), Hum Mol Genet, 9, 1453, 10.1093/hmg/9.9.1453 Shackleton, 2000, LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, Nat Genet, 24, 153, 10.1038/72807 De Sandre Giovannoli, 2002, Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse, Am J Med Genet, 70, 726 Novelli, 2002, Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C, Am J Med Genet, 71, 426 Eriksson, 2003, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome, Nature, 423, 293, 10.1038/nature01629 Dalakas, 2000, Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene, N Engl J Med, 342, 770, 10.1056/NEJM200003163421104 Tesson, 2000, Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy, Eur Heart J, 21, 1817, 10.1053/euhj.2000.2245 Marin-García, 2002, La mitocondria y el corazón, Rev Esp Cardiol, 55, 1293, 10.1016/S0300-8932(02)76802-4 Chin, 1990, Isolated noncompaction of left ventricular myocardium: a study of eight cases, Circulation, 82, 507, 10.1161/01.CIR.82.2.507 Ichida, 1999, Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background, J Am Coll Cardiol, 34, 233, 10.1016/S0735-1097(99)00170-9 Jenni, 2001, Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy, Heart, 86, 666, 10.1136/heart.86.6.666 Pantazis, 2006, Hypertrophic cardiomyopathy and left ventricular hypertrabeculation: evidence for an overlapping phenotype, Heart, 92, 349, 10.1136/hrt.2005.070110 Biagini, 2006, Different types of cardiomyopathy associated with isolated ventricular noncompaction, Am J Cardiol, 98, 821, 10.1016/j.amjcard.2006.04.021 Murphy, 2005, Natural history and familial characteristics of isolated left ventricular non-compaction, Eur Heart J, 26, 187, 10.1093/eurheartj/ehi025 Oechslin, 2000, Long term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis, J Am Coll Cardiol, 36, 493, 10.1016/S0735-1097(00)00755-5 Varnava, 2001, Isolated left ventricular non-compaction: a distinct cardiomyopathy?, Heart, 86, 599, 10.1136/heart.86.6.599 Maron, 2006, Circulation, 113, 1807, 10.1161/CIRCULATIONAHA.106.174287 Becane, 2000, High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation, Pacing Clin Electrophysiol, 23, 1661, 10.1046/j.1460-9592.2000.01661.x Van Berlo, 2005, Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?, J Mol Med, 83, 79, 10.1007/s00109-004-0589-1 Mahon, 2000, Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy, Heart, 84, 541, 10.1136/heart.84.5.541 Medin, 2007, Mutational screening of phospholamban gene in hypertrophic and dilated cardiomyopathy and functional study of the PLN −42 C>G mutation, Eur J Heart Fail, 9, 37, 10.1016/j.ejheart.2006.04.007