La miocardiopatía dilatada idiopática es una enfermedad familiar en un 30-50% de los casos. Hasta el momento se han identificado mutaciones asociadas con esta enfermedad en más de 25 genes diferentes, relacionados con proteínas del citoesqueleto, el sarcómero, las uniones intercelulares, la membrana nuclear, los canales iónicos y las proteínas mitocondriales. Los estudios de correlación entre genotipo y fenotipo muestran que ciertas características clínicas, como la presencia de trastornos de la conducción, miopatía esquelética o hipertrabeculación, pueden orientar hacia la causa genética de la enfermedad. Por otra parte, mutaciones en los mismos genes pueden tener una expresión clínica muy variable y asociarse con diferentes fenotipos, como miocardiopatía hipertrófica, restrictiva, falta de compactación, displasia arritmogénica del ventrículo derecho o miopatía esquelética. Aunque los estudios genéticos no son una práctica habitual en la miocardiopatía dilatada, disponemos ya de conocimientos y tecnología suficiente para comenzar a utilizarlos. Para ello es esencial la colaboración entre investigación básica y clínica. Los médicos responsables del tratamiento de los pacientes con miocardiopatía dilatada deben aproximarse a la genética y participar en la investigación clínica con su propio conocimiento sobre la enfermedad. En esta revisión intentamos proporcionar a los clínicos los conceptos fundamentales para conocer la situación actual de la genética de la miocardiopatía dilatada y comprender su utilidad, sus ventajas y sus limitaciones. La utilidad práctica de la genética es ya una realidad en las miocardiopatías y debemos hacer un esfuerzo para que los pacientes se beneficien del avance en el conocimiento.
Palabras clave
Miocardiopatía dilatada
Genética
Mutación
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Bibliografía
[1.]
P. Richardson, W. McKenna, M. Bristow, B. Maisch, B. Mautner, J. O’Connell, et al.
Report of the 1995 World Health Organization/ Internacional Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies.
Circulation, (1996), 93 pp. 841-842
[2.]
L. Mestroni, B. Baisch, W.J. McKenna, K. Schwartz, P. Charron, C. Rocco, et al.
Guidelines for the study of familial dilated cardiomyopathies.
Eur Heart J, (1999), 20 pp. 93-102
[3.]
V.V. Michels, P.P. Moll, F.A. Miller, A.J. Tajik, J.S. Chu, D.J. Driscoll, et al.
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.
N Engl J Med, (1992), 326 pp. 77-82
[4.]
P.J. Keeling, Y. Gang, G. Smith, H. Seo, S.E. Bent, V. Murday, et al.
Familial dilated cardiomyopathy in the United Kingdom.
Br Heart J, (1995), 73 pp. 417-421
[5.]
C. McKenna, M. Codd, H. McCann, D. Sugrue.
Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution.
Heart, (1997), 77 pp. 549-552
[6.]
E. Grünig, J.A. Tasman, H. Kücherer, W. Franz, W. Kubler, H.A. Katus.
Frequency and phenotypes of familial dilated cardiomyopathy.
J Am Coll Cardiol, (1998), 31 pp. 186-194
[7.]
M.K. Baig, J.H. Goldman, A.L. Caforio, A.S. Coonar, P.J. Keeling, W.J. McKenna.
Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease.
J Am Coll Cardiol, (1998), 31 pp. 195-201
[8.]
L. Mestroni, C. Rocco, D. Gregori, G. Sinagra, A. Di Lenarda, S. Miocic, et al.
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity.
J Am Coll Cardiol, (1999), 34 pp. 181-190
[9.]
L. Monserrat, H. Hermida, B. Bouzas, I. Mosquera, N. Mahon, J. Peteiro, et al.
Miocardiopatía dilatada familiar en pacientes trasplantados por miocardiopatía dilatada idiopática.
Rev Esp Cardiol, (2002), 55 pp. 725-732
[10.]
V.V. Michels, D.J. Driscoll, F.A. Miller, T.M. Olson, E.J. Atkinson, C.L. Olswold, et al.
Progression of familial and non-familial dilated cardiomyopathy: long term follow up.
Heart, (2003), 89 pp. 757-761
[11.]
E.L. Burkett, R.E. Hershberger.
Clinical and genetic issues in familial dilated cardiomyopathy.
J Am Coll Cardiol, (2005), 45 pp. 969-981
[12.]
W.L. Henry, J.M. Gardin, J.H. Ware.
Echocardiographic measurements in normal subjects from infancy to old age.
Circulation, (1980), 62 pp. 1054-1061
[13.]
N.G. Mahon, R.T. Murphy, C.A. MacRae, A.L. Caforio, P.M. Elliott, W.J. McKenna.
Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease.
Ann Intern Med, (2005), 143 pp. 108-115
[14.]
A. Castro-Beiras, L. Monserrat, M. Hermida.
Miocardiopatía dilatada familiar: situación actual y beneficios clínicos de la investigación básica.
Rev Esp Cardiol, (2003), 56 pp. 7-12
[15.]
S.K. Pathak, P.R.C. Kukreja, M. Hess.
Molecular pathology of dilated cardiomyopathies.
Curr Probl Cardiol, (1996), 21 pp. 103-144
[16.]
L. Mestroni, J. Milasin, M. Vatta, B. Pinamonti, B. Sinagra, C. Rocco, et al.
Genetic factors in dilated cardiomyopathy.
Arch Mal Coeur Vaiss, (1996), 89 pp. 15-20
[17.]
E. Arbustini, P. Morbinini, A. Pilotto, A. Gavazzi, L. Tavazzi.
Familial dilated cardiomyopathy: from clinical presentation to molecular genetics.
Eur Heart J, (2000), 21 pp. 1825-1832
[18.]
E. Arbustini, M. Diegoli, P. Morbini, B. Dal Bello, N. Banchieri, A. Pilotto, et al.
Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy.
J Am Coll Cardiol, (2000), 35 pp. 1760-1768
[19.]
T.M. Olson, V.V. Michels, S.N. Thibodeau, Y.S. Tai, M.T. Keating.
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
Science, (1998), 280 pp. 750-752
[20.]
B.L. Siu, H. Niimura, J.A. Osborne, D. Fatkin, C. MacRae, S. Solomon, et al.
Familial dilated cardiomyopathy locus maps to chromosome 2q31.
Circulation, (1999), 99 pp. 1022-1026
[21.]
P.T. Ellinor, S. Sasse-Klaassen, S. Probst, B. Gerull, J.T. Shin, A. Toeppel, et al.
A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
J Am Coll Cardiol, (2006), 48 pp. 106-111
[22.]
J. Schonberger, L. Kuhler, E. Martins, T.H. Lindner, J. Silva-Cardoso, M. Zimmer.
A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.
Hum Genet, (2005), 118 pp. 451-457
[23.]
B. Gerull, M. Gramlich, J. Atherton, M. McNabb, K. Trombitas, S. Sasse-Klaassen, et al.
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Nat Genet, (2002), 30 pp. 201-204
[24.]
M. Kamisago, S.D. Sharma, S.R. DePalma, S. Solomon, P. Sharma, B. McDonough, et al.
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
N Engl J Med, (2000), 2 pp. 103-104
[25.]
D. Li, G.Z. Czernuszewicz, O. González, T. Tapscott, A. Karibe, J.B. Durand, et al.
Novel cardiac troponin T mutations as a cause of familial dilated cardiomyopathy.
Circulation, (2001), 104 pp. 2188-2193
[26.]
S. Daehmlow, J. Erdmann, T. Knueppel, G. Gille, C. Froemmel, M. Hummel, et al.
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
Biochem Biophys Res Commun, (2002), 298 pp. 116-120
[27.]
T. Konno, M. Shimizu, H. Ino, T. Matsuyama, M. Yamaguchi, H. Terai, et al.
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, (2003), 41 pp. 781-786
[28.]
J. Mogensen, R.T. Murphy, T. Shaw, A. Bahla, C. Redwood, H. Watkins, et al.
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
J Am Coll Cardiol, (2004), 44 pp. 2033-2040
[29.]
R.T. Murphy, J. Mogensen, A. Shaw, T. Kubo, S. Hughes, W.J. McKenna.
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
Lancet, (2004), 363 pp. 371-372
[30.]
C.B. Stefanelli, A. Rosenthal, A.B. Borisov, G.J. Ensing, M.W. Russell.
Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.
Mol Genet Metab, (2004), 83 pp. 188-196
[31.]
S. Karkkainen, T. Helio, P. Jaaskelainen, R. Miettinen, P. Tuomainen, K. Ylitalo, et al.
Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.
Eur J Heart Fail, (2004), 6 pp. 861-868
[32.]
E. Illard, L. Duboscq-Bidot, P. Charron, A. Benaiche, V. Conraads, N. Sylvius, et al.
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
Eur Heart J, (2005), 26 pp. 794-803
[33.]
E. Carniel, M.R. Taylor, G. Sinagra, A. Di Lenarda, L. Ku, P.R. Fain, et al.
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.
Circulation, (2005), 112 pp. 54-59
[34.]
T.M. Olson, N.Y. Kishimoto, F.G. Whitby, V.V. Michels.
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
J Mol Cell Cardiol, (2001), 33 pp. 723-732
[35.]
S. Tsubata, K.R. Bowles, M. Vatta, C. Zintz, J. Titus, L. Muhonen, et al.
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
J Clin Invest, (2000), 106 pp. 655-662
[36.]
S. Karkkainen, R. Miettinen, P. Tuomainen, P. Karkkainen, T. Helio, E. Reisell, et al.
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
J Mol Med, (2003), 81 pp. 795-800
[37.]
M.R. Taylor, D. Slavov, A. Gajewski, S. Vlcek, L. Ku, P.R. Fain, et al.
Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.
Hum Mutat, (2005), 26 pp. 566-574
[38.]
G. Bonne, M.R. Di Barletta, S. Varnous, H.M. Becane, E.H. Hammouda, L. Merlini, et al.
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nat Genet, (1999), 21 pp. 285-288
[39.]
D. Fatkin, C. MacRae, T. Sasaki, M.R. Wolff, M. Porcu, M. Frenneaux, et al.
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, (1999), 341 pp. 1715-1724
[40.]
G.L. Brodsky, F. Muntoni, S. Miocic, G. Sinagra, C. Sewry, L. Mestroni.
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
Circulation, (2000), 101 pp. 473-476
[41.]
G. Bonne, E. Mercuri, A. Muchir, A. Urtizberea, H.M. Becane, D. Recan, et al.
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Ann Neurol, (2000), 48 pp. 170-180
[42.]
J. Genschel, B. Bochow, S. Kuepferling, R. Ewert, R. Hetzer, H. Lochs, et al.
A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.
Hum Mutat, (2001), 17 pp. 154
[43.]
P.M. Jakobs, E.L. Hanson, K.A. Crispell, W. Toy, H. Keegan, K. Schilling, et al.
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
J Card Fail, (2001), 7 pp. 249-256
[44.]
E. Arbustini, A. Pilotto, A. Repetto, M. Grasso, A. Negri, M. Diegoli, et al.
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
J Am Coll Cardiol, (2002), 39 pp. 981-990
[45.]
R.E. Hershberger, E.L. Hanson, P.M. Jakobs, H. Keegan, K. Coates, S. Bousman, et al.
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, (2002), 144 pp. 1081-1086
[46.]
M.R. Taylor, P.R. Fain, G. Sinagra, M.L. Robinson, A.D. Robertson, E. Carniel, et al.
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
J Am Coll Cardiol, (2003), 41 pp. 771-780
[47.]
P. Sebillon, C. Bouchier, L.D. Bidot, G. Bonne, K. Ahamed, P. Charron, et al.
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
J Med Genet, (2003), 40 pp. 560-567
[48.]
M. Hermida-Prieto, L. Monserrat, A. Castro-Beiras, R. Laredo, R. Soler, J. Peteiro, et al.
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
Am J Cardiol, (2004), 94 pp. 50-54
[49.]
S. Karkkainen, T. Helio, R. Miettinen, P. Tuomainen, P. Peltola, J. Rummukainen, et al.
A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
Eur Heart J, (2004), 25 pp. 885-893
[50.]
N. Sylvius, Z.T. Bilinska, J.P. Veinot, A. Fidzianska, P.M. Bolongo, S. Poon, et al.
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
J Med Genet, (2005), 42 pp. 639-647
[51.]
T. Hayashi, T. Arimura, M. Itoh-Satoh, K. Ueda, S. Hohda, N. Inagaki, et al.
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
J Am Coll Cardiol, (2004), 44 pp. 2192-2201
[52.]
D. Li, T. Tapscoft, O. González, P.E. Burch, M.A. Quinones, W.A. Zoghbi, et al.
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
Circulation, (1999), 100 pp. 461-464
[53.]
B. Mohapatra, S. Jiménez, J.H. Lin, K.R. Bowles, K.J. Coveler, J.G. Marx, et al.
Mutations in the muscle LIM protein and alpha-actinin 2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
Mol Genet Metab, (2003), 80 pp. 207-215
[54.]
R. Knoll, M. Hoshijima, H.M. Hoffman, V. Person, I. Lorenzen-Schmidt, M.L. Bang, et al.
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.
Cell, (2002), 111 pp. 943-955
[55.]
M. Vatta, B. Mohapatra, S. Jiménez, X. Sánchez, G. Faulkner, Z. Perles, et al.
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
J Am Coll Cardiol, (2003), 42 pp. 2014-2027
[56.]
T. Arimura, T. Hayashi, H. Terada, S.Y. Lee, Q. Zhou, M. Takahashi, et al.
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.
J Biol Chem, (2004), 279 pp. 6746-6752
[57.]
M. Itoh-Satoh, T. Hayashi, H. Nishi, Y. Koga, T. Arimura, T. Koyanagi, et al.
Titin mutations as the molecular basis for dilated cardiomyopathy.
Biochem Biophys Res Commun, (2002), 291 pp. 385-393
[58.]
Y. Matsumoto, T. Hayashi, N. Inagki, M. Takahashi, S. Hiroi, T. Nakamura, et al.
Functional analysis of titin/connectin N2-B mutations found in cardiomypathy.
J Muscle Res Cell Motil, (2005), 26 pp. 367-374
[59.]
T.M. Olson, S. Illenberger, N.Y. Kishimoto, S. Huttelmaier, M.T. Keating, B.M. Jockusch.
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
Circulation, (2002), 105 pp. 431-437
[60.]
M. Maeda, E. Holder, B. Lowes, S. Valent, R.D. Bies.
Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin.
Circulation, (1997), 95 pp. 362-366
[61.]
V.C. Vasile, M.L. Will, S.R. Ommen, W.D. Edwards, T.M. Olson, M.J. Ackerman.
Identificacion of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.
Mol Genet Metab, (2006), 87 pp. 169-174
[62.]
N. Inagaki, T. Hayashi, T. Arimura, Y. Koga, M. Takahashi, H. Shibata, et al.
Alpha B-crystallin mutation in dilated cardiomyopathy.
Biochem Biophys Res Commun, (2006), 342 pp. 379-386
[63.]
M. Bienengraeber, T.M. Olson, V.A. Selivanov, E.C. Kathmann, F. O’Cochlain, F. Gao, et al.
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
Nat Genet, (2004), 36 pp. 382-387
[64.]
W.P. McNair, L. Ku, M.R. Taylor, P.R. Fain, D. Dao, E. Wolfel, et al.
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
Circulation, (2004), 110 pp. 2163-2167
[65.]
T.M. Olson, V.V. Michels, J.D. Ballew, S.P. Reyna, M.L. Karst, K.J. Herron, et al.
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
JAMA, (2005), 293 pp. 447-454
[66.]
J.P. Schmitt, M. Kamisago, M. Asahi, G.H. Li, F. Ahmad, U. Mende, et al.
Dilated cardiomyopathy and heart failure caused by mutations in phospholamban.
Science, (2003), 299 pp. 1410-1413
[67.]
K. Haghighi, F. Kolokathis, L. Pater, R.A. Lynch, M. Asahi, A.O. Gramolini, et al.
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
J Clin Invest, (2003), 111 pp. 869-876
[68.]
K. Haghighi, F. Kolokathis, A.O. Gramolini, J.R. Waggoner, L. Pater, R.A. Lynch, et al.
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
Proc Natl Acad Sci USA, (2006), 103 pp. 1388-1393
[69.]
A. Uzumcu, E.E. Norgett, A. Dindar, O. Uygener, K. Nisli, H. Kayserili, et al.
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
J Med Genet, (2006), 43 pp. e5
[70.]
E.E. Norgett, S.J. Hatsell, L. Carvajal-Huerta, J.C. Cabezas, J. Common, P.E. Purkis, et al.
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Hum Mol Genet, (2000), 9 pp. 2761-2766
[71.]
J.J. Bissler, M. Tsoras, H.H. Goring, P. Hug, G. Chuck, E. Tombragel, et al.
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
Lab Invest, (2002), 82 pp. 335-344
[72.]
F. Ichida, S. Tsubata, K.R. Bowles, N. Haneda, K. Uese, T. Miyawaki, et al.
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
Circulation, (2001), 103 pp. 1256-1263
[73.]
P. D’Adamo, L. Fassone, A. Gedeon, E.A. Janssen, S. Bione, P.A. Bolhuis, et al.
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
Am J Hum Genet, (1997), 61 pp. 862-867
[74.]
J. Milasin, F. Mutoni, G.M. Severini, L. Bartolini, M. Vatta, M. Krajinovic, et al.
A point mutation in the 5’ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.
Hum Mol Genet, (1996), 5 pp. 73-79
[75.]
R. Ortiz-López, H. Li, J. Su, V. Goytia, J.A. Towbin.
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.
Circulation, (1997), 95 pp. 2434-2440
[76.]
A. Ferlini, N. Galie, L. Merlini, C. Sewry, A. Branzi, F. Muntoni.
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, (1998), 63 pp. 436-446
[77.]
E. Arbustini, M. Diegoli, P. Morbini, B. Dal Bello, N. Banchieri, A. Pilotto, et al.
Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy.
J Am Coll Cardiol, (2000), 35 pp. 1760-1768
[78.]
M. Shimizu, H. Ino, T. Yasuda, N. Fujino, K. Uchiyama, T. Mabuchi, et al.
Gene mutations in adult Japanese patients with dilated cardiomyopathy.
Circ J, (2005), 69 pp. 150-153
[79.]
J. Feng, J. Yan, C.H. Buzin, J.A. Towbin, S.S. Sommer.
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
Mol Genet Metab, (2002), 77 pp. 119-126
[80.]
J. Feng, J.Y. Yan, C.H. Buzin, S.S. Sommer, J.A. Towbin.
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.
J Am Coll Cardiol, (2002), 40 pp. 1120-1124
[81.]
W.S. Shin, M. Tanaka, J. Suzuki, C. Hemmi, T. Toyo-oka.
A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy.
Am J Hum Genet, (2000), 67 pp. 1617-1620
[82.]
A. Suomalainen, A. Paetau, H. Leinonen, A. Majander, L. Peltonen, H. Somer.
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.
Lancet, (1992), 340 pp. 1319-1320
[83.]
S. Bohlega, K. Tanji, F.M. Santorelli, M. Hirano, A. al-Jishi, S. DiMauro.
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.
Neurology, (1996), 46 pp. 1329-1334
[84.]
M. Grasso, M. Diegoli, A. Brega, C. Campana, L. Tavazzi, E. Arbustini.
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.
Eur J Hum Genet, (2001), 9 pp. 311-315
[85.]
K.M. Davey, J.S. Parboosingh, D.R. McLeod, A. Chan, R. Casey, P. Ferreira, et al.
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, (2006), 43 pp. 385-393
[86.]
J. Mogensen, I.C. Klausen, A. Pedersen, H. Egeblad, P. Bross, T.A. Kruse, et al.
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
J Clin Invest, (1999), 103 pp. R39-43
[87.]
S.G. Priori, C. Napolitano.
Role of genetic analyses in cardiology: Part I: mendelian diseases: cardiac channelopaties.
Circulation, (2006), 113 pp. 1130-1135
[88.]
W.H. Raharjo, P. Enarson, T. Sullivan, C.L. Stewart, B. Burke.
Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.
J Cell Sci, (2001), 114 pp. 4447-4457
[89.]
A. Muchir, G. Bonne, A.J. Van der Kooi, M. Van Meegen, F. Baas, P.A. Bolhuis, et al.
Identification of mutations in the gene encoding lamins A/C in autosomal dominant muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
Hum Mol Genet, (2000), 9 pp. 1453-1459
[90.]
S. Shackleton, D.J. Lloyd, S.N. Jackson, R. Evans, M.F. Niermeijer, B.M. Singh, et al.
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Nat Genet, (2000), 24 pp. 153-156
[91.]
A. De Sandre Giovannoli, M. Chaouch, S. Kozlov, J.M. Vallat, M. Tazir, N. Kassouri, et al.
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, (2002), 70 pp. 726-736
[92.]
G. Novelli, A. Muchir, F. Sanguiuolo, A. Helbling-Leclerc, M.R. D’Apice, C. Massart, et al.
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Am J Med Genet, (2002), 71 pp. 426-431
[93.]
M. Eriksson, W.T. Brown, L.B. Gordon, M.W. Glynn, J. Singer, L. Scott, et al.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature, (2003), 423 pp. 293-298
[94.]
M.C. Dalakas, K.Y. Park, C. Semino-Mora, H.S. Lee, K. Sivakumar, L.G. Goldfarb.
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
N Engl J Med, (2000), 342 pp. 770-780
[95.]
F. Tesson, N. Sylvius, A. Pilotto, L. Dubosq-Bidot, M. Peuchmaurd, C. Bouchier, et al.
Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.
Eur Heart J, (2000), 21 pp. 1817-1819
[96.]
J. Marin-García, M.J. Goldenthal.
La mitocondria y el corazón.
Rev Esp Cardiol, (2002), 55 pp. 1293-1310
[97.]
T.K. Chin, J.K. Perloff, R.G. Williams, K. Jue, R. Mohrmann.
Isolated noncompaction of left ventricular myocardium: a study of eight cases.
Circulation, (1990), 82 pp. 507-513
[98.]
F. Ichida, Y. Hamamichi, T. Miyawaki, Y. Ono, T. Kamiya, T. Akagi, et al.
Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background.
J Am Coll Cardiol, (1999), 34 pp. 233-240
[99.]
R. Jenni, E. Oechslin, J. Schneider, C.H. Attenhofer, P.A. Kaufmann.
Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy.
Heart, (2001), 86 pp. 666-671
[100.]
A.A. Pantazis, S.K. Kohli, P.M. Elliott.
Hypertrophic cardiomyopathy and left ventricular hypertrabeculation: evidence for an overlapping phenotype.
Heart, (2006), 92 pp. 349
[101.]
E. Biagini, L. Ragni, M. Ferlito, F. Pasquale, C. Lofiego, O. Leone, et al.
Different types of cardiomyopathy associated with isolated ventricular noncompaction.
Am J Cardiol, (2006), 98 pp. 821-824
[102.]
R.T. Murphy, R. Thaman, J. Gimeno-Blanes, D. Ward, E. Sevdalis, E. Papra, et al.
Natural history and familial characteristics of isolated left ventricular non-compaction.
Eur Heart J, (2005), 26 pp. 187-192
[103.]
E.N. Oechslin, C.H. Attenhofer, J.R. Rojas, P.A. Kaufmann, R. Jenni.
Long term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis.
J Am Coll Cardiol, (2000), 36 pp. 493-500
[104.]
A.M. Varnava.
Isolated left ventricular non-compaction: a distinct cardiomyopathy?.
Heart, (2001), 86 pp. 599-600
[105.]
B.J. Maron, J.A. Towbin, G. Thiene, C. Antzelevitch, D. Corrado, D. Arnett, et al.
Contemporary definitions and classification of the cardiomyopathies: an American Heart Association scientific statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention.
Circulation, (2006), 113 pp. 1807-1816
[106.]
H.M. Becane, G. Bonne, S. Varnous, A. Muchir, V. Ortega, E.H. Hammouda, et al.
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.
Pacing Clin Electrophysiol, (2000), 23 pp. 1661-1666
[107.]
J.H. Van Berlo, W.G. De Voogt, A.J. Van der Kooi, J.P. Van Tintelen, G. Bonne, R.B. Yaou, et al.
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, (2005), 83 pp. 79-83
[108.]
N.G. Mahon, A.S. Coonar, S. Jeffery, F. Coccolo, J. Akiyu, B. Zal, et al.
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.
Heart, (2000), 84 pp. 541-547
[109.]
M. Medin, M. Hermida-Prieto, L. Monserrat, R. Laredo, J.C. Rodríguez-Rey, X. Fernández, et al.
Mutational screening of phospholamban gene in hypertrophic and dilated cardiomyopathy and functional study of the PLN −42 C>G mutation.
Eur J Heart Fail, (2007), 9 pp. 37-43
Lorenzo Monserrat recibe financiación de una ayuda a la investigación de la Fundación Sanofi-Aventis.
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2007. Sociedad Española de Cardiología