메뉴 건너뛰기




Volumn 19, Issue 6, 2007, Pages 619-627

Noncompaction of the left ventricle: Primary cardiomyopathy with an elusive genetic etiology

Author keywords

Arrhythmia; Cardiomyopathies; Congestive; Heart diseases; Heart failure; Heart ventricles

Indexed keywords

BARTH SYNDROME; CARDIOMYOPATHY; CHROMOSOME; GENE LOCUS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEART LEFT VENTRICLE; HEREDITY; HUMAN; METABOLIC SYNDROME X; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 36349024609     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3282f1ecbc     Document Type: Review
Times cited : (86)

References (80)
  • 1
    • 33646693410 scopus 로고    scopus 로고
    • 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
    • Maron BJ, Towbin JA, Thiene G, 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; 113:1807-1816.
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 2
    • 0016808494 scopus 로고
    • Postnatal persistence of spongy myocardium with embryonic blood supply
    • Dusek J, Ostadal B, Duskova M. Postnatal persistence of spongy myocardium with embryonic blood supply. Arch Pathol 1975; 99:312-317.
    • (1975) Arch Pathol , vol.99 , pp. 312-317
    • Dusek, J.1    Ostadal, B.2    Duskova, M.3
  • 3
    • 0025106446 scopus 로고
    • Isolated noncompaction of left ventricular myocardium. A study of eight cases
    • Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990; 82:507-513.
    • (1990) Circulation , vol.82 , pp. 507-513
    • Chin, T.K.1    Perloff, J.K.2    Williams, R.G.3
  • 4
    • 0033853552 scopus 로고    scopus 로고
    • Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis
    • Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 2000; 36:493-500.
    • (2000) J Am Coll Cardiol , vol.36 , pp. 493-500
    • Oechslin, E.N.1    Attenhofer Jost, C.H.2    Rojas, J.R.3
  • 5
    • 0344844423 scopus 로고    scopus 로고
    • Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy
    • Pignatelli RH, McMahon CJ, Dreyer WJ, et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation 2003; 108:2672-2678.
    • (2003) Circulation , vol.108 , pp. 2672-2678
    • Pignatelli, R.H.1    McMahon, C.J.2    Dreyer, W.J.3
  • 6
    • 33845449002 scopus 로고    scopus 로고
    • Clinical features of isolated ventricular noncompaction in adults long-term clinical course, echocardiographic properties, and predictors of left ventricular failure
    • This article describes one of the largest adult cohorts with noncompaction cardiomyopathy. This study provides important information regarding prognosis
    • Aras D, Tufekcioglu O, Ergun K, et al. Clinical features of isolated ventricular noncompaction in adults long-term clinical course, echocardiographic properties, and predictors of left ventricular failure. J Card Fail 2006; 12:726-733. This article describes one of the largest adult cohorts with noncompaction cardiomyopathy. This study provides important information regarding prognosis.
    • (2006) J Card Fail , vol.12 , pp. 726-733
    • Aras, D.1    Tufekcioglu, O.2    Ergun, K.3
  • 7
    • 33846218122 scopus 로고    scopus 로고
    • Lofiego C, Biagini E, Pasquale F, et al. Wide spectrum of presentation and variable outcomes of isolated left ventricular noncompaction. Heart 2007; 93:65-71. This paper examines one of the largest adult cohorts with noncompaction cardiomyopathy. The paper provides information regarding better prognosis than was previously suggested in smaller series of patients.
    • Lofiego C, Biagini E, Pasquale F, et al. Wide spectrum of presentation and variable outcomes of isolated left ventricular noncompaction. Heart 2007; 93:65-71. This paper examines one of the largest adult cohorts with noncompaction cardiomyopathy. The paper provides information regarding better prognosis than was previously suggested in smaller series of patients.
  • 8
    • 34249321902 scopus 로고    scopus 로고
    • Isolated noncompaction of the ventricular myocardium in a 94-year-old patient: Depiction at echocardiography and magnetic resonance imaging
    • This article describes the oldest individual with noncompaction cardiomyopathy
    • Sato Y, Matsumoto N, Matsuo S, et al. Isolated noncompaction of the ventricular myocardium in a 94-year-old patient: depiction at echocardiography and magnetic resonance imaging. Int J Cardiol 2007; 119:e32-e34. This article describes the oldest individual with noncompaction cardiomyopathy.
    • (2007) Int J Cardiol , vol.119
    • Sato, Y.1    Matsumoto, N.2    Matsuo, S.3
  • 9
    • 0035185141 scopus 로고    scopus 로고
    • Echocardiographic and pathoanatomical characteristics of isolated left ventricular noncompaction: A step towards classification as a distinct cardiomyopathy
    • Jenni R, Oechslin E, Schneider J, et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular noncompaction: a step towards classification as a distinct cardiomyopathy. Heart 2001; 86:666-671.
    • (2001) Heart , vol.86 , pp. 666-671
    • Jenni, R.1    Oechslin, E.2    Schneider, J.3
  • 11
    • 17444385266 scopus 로고    scopus 로고
    • Usefulness of contrast echocardiography for diagnosis of left ventricular noncompaction
    • De Groot-de Laat LE, Krenning BJ, et al. Usefulness of contrast echocardiography for diagnosis of left ventricular noncompaction. Am J Cardiol 2005; 95:1131-1134.
    • (2005) Am J Cardiol , vol.95 , pp. 1131-1134
    • De Groot-de Laat, L.E.1    Krenning, B.J.2
  • 12
    • 27744528985 scopus 로고    scopus 로고
    • Live three-dimensional transthoracic echocardiographic assessment of ventricular noncompaction
    • Bodiwala K, Miller AP, Nanda NC, et al. Live three-dimensional transthoracic echocardiographic assessment of ventricular noncompaction. Echocardiography 2005; 22:611-620.
    • (2005) Echocardiography , vol.22 , pp. 611-620
    • Bodiwala, K.1    Miller, A.P.2    Nanda, N.C.3
  • 13
    • 4043106708 scopus 로고    scopus 로고
    • Images in cardiovascular medicine. Diagnosis of isolated noncompaction of the myocardium by magnetic resonance imaging
    • Borreguero LJ, Corti R, de Soria RF, et al. Images in cardiovascular medicine. Diagnosis of isolated noncompaction of the myocardium by magnetic resonance imaging. Circulation 2002; 105:E177-E178.
    • (2002) Circulation , vol.105
    • Borreguero, L.J.1    Corti, R.2    de Soria, R.F.3
  • 14
    • 33846431644 scopus 로고    scopus 로고
    • Mohrs OK, Magedanz A, Schlosser T. Noncompaction of the left ventricular myocardium detected by 64-slice multidetector computed tomography. Clin Cardiol 2007; 30:48. This case report provides 64-slice computed tomography images to demonstrate the features of noncompaction.
    • Mohrs OK, Magedanz A, Schlosser T. Noncompaction of the left ventricular myocardium detected by 64-slice multidetector computed tomography. Clin Cardiol 2007; 30:48. This case report provides 64-slice computed tomography images to demonstrate the features of noncompaction.
  • 15
    • 0033165683 scopus 로고    scopus 로고
    • Clinical features of isolated noncompaction of the ventricular myocardium: Long-term clinical course, hemodynamic properties, and genetic background
    • Ichida F, Hamamichi Y, Miyawaki T, 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; 34:233-240.
    • (1999) J Am Coll Cardiol , vol.34 , pp. 233-240
    • Ichida, F.1    Hamamichi, Y.2    Miyawaki, T.3
  • 16
    • 33748082289 scopus 로고    scopus 로고
    • Isolated ventricular noncompaction with restrictive cardiomyopathy
    • This case report expands the clinical phenotype of noncompaction to include restrictive features
    • Rapezzi C, Leone O, Ferlito M, et al. Isolated ventricular noncompaction with restrictive cardiomyopathy. Eur Heart J 2006; 27:1927. This case report expands the clinical phenotype of noncompaction to include restrictive features.
    • (2006) Eur Heart J , vol.27 , pp. 1927
    • Rapezzi, C.1    Leone, O.2    Ferlito, M.3
  • 17
    • 33845448118 scopus 로고    scopus 로고
    • Isolated ventricular noncompaction: Clinical study and genetic review
    • This work provides a general review and a case report that expands the clinical phenotype of noncompaction to include restrictive features
    • Markiewicz-Loskot G, Moric-Janiszewska E, Loskot M, et al. Isolated ventricular noncompaction: clinical study and genetic review. Europace 2006; 8:1064-1067. This work provides a general review and a case report that expands the clinical phenotype of noncompaction to include restrictive features.
    • (2006) Europace , vol.8 , pp. 1064-1067
    • Markiewicz-Loskot, G.1    Moric-Janiszewska, E.2    Loskot, M.3
  • 18
    • 33748039745 scopus 로고    scopus 로고
    • Different types of cardiomyopathy associated with isolated ventricular noncompaction
    • Biagini E, Ragni L, Ferlito M, et al. Different types of cardiomyopathy associated with isolated ventricular noncompaction. Am J Cardiol 2006; 98:821-824.
    • (2006) Am J Cardiol , vol.98 , pp. 821-824
    • Biagini, E.1    Ragni, L.2    Ferlito, M.3
  • 21
    • 34247139304 scopus 로고    scopus 로고
    • Acquired noncompaction
    • Letter defining the distinctive features of NCLV
    • Finsterer J, Stollberger C. Acquired noncompaction. Int J Cardiol 2007; 118:235-236. Letter defining the distinctive features of NCLV.
    • (2007) Int J Cardiol , vol.118 , pp. 235-236
    • Finsterer, J.1    Stollberger, C.2
  • 22
    • 34249882205 scopus 로고    scopus 로고
    • Prominent crypt formation in the inferoseptum of a hypertrophic cardiomyopathy mutation carrier mimics noncompaction cardiomyopathy
    • This is an excellent case report showing the overlap of the cardiac findings between hypertrophic and noncompaction cardiomyopathies. This paper suggests phenotypic and genetic overlap between the two conditions
    • Germans T, Dijkmans PA, Wilde AA, et al. Prominent crypt formation in the inferoseptum of a hypertrophic cardiomyopathy mutation carrier mimics noncompaction cardiomyopathy. Circulation 2007; 115:e610-e611. This is an excellent case report showing the overlap of the cardiac findings between hypertrophic and noncompaction cardiomyopathies. This paper suggests phenotypic and genetic overlap between the two conditions.
    • (2007) Circulation , vol.115
    • Germans, T.1    Dijkmans, P.A.2    Wilde, A.A.3
  • 23
    • 0031428848 scopus 로고    scopus 로고
    • Isolated noncompaction of the myocardium in adults
    • Ritter M, Oechslin E, Sutsch G, et al. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc 1997; 72:26-31.
    • (1997) Mayo Clin Proc , vol.72 , pp. 26-31
    • Ritter, M.1    Oechslin, E.2    Sutsch, G.3
  • 24
    • 2942516016 scopus 로고    scopus 로고
    • Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15
    • Sasse-Klaassen S, Probst S, Gerull B, et al. Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation 2004; 109:2720-2723.
    • (2004) Circulation , vol.109 , pp. 2720-2723
    • Sasse-Klaassen, S.1    Probst, S.2    Gerull, B.3
  • 25
    • 33646058879 scopus 로고    scopus 로고
    • Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
    • Xing Y, Ichida F, Matsuoka T, et al. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 2006; 88:71-77.
    • (2006) Mol Genet Metab , vol.88 , pp. 71-77
    • Xing, Y.1    Ichida, F.2    Matsuoka, T.3
  • 26
    • 0030820393 scopus 로고    scopus 로고
    • Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals
    • Bleyl SB, Mumford BR, Brown-Harrison MC, et al. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 1997; 72:257-265.
    • (1997) Am J Med Genet , vol.72 , pp. 257-265
    • Bleyl, S.B.1    Mumford, B.R.2    Brown-Harrison, M.C.3
  • 27
    • 0033516626 scopus 로고    scopus 로고
    • Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium
    • Digilio MC, Marino B, Bevilacqua M, et al. Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium. Am J Med Genet 1999; 85:90-91.
    • (1999) Am J Med Genet , vol.85 , pp. 90-91
    • Digilio, M.C.1    Marino, B.2    Bevilacqua, M.3
  • 28
    • 0030774767 scopus 로고    scopus 로고
    • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
    • Bleyl SB, Mumford BR, Thompson V, et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 1997; 61:868-872.
    • (1997) Am J Hum Genet , vol.61 , pp. 868-872
    • Bleyl, S.B.1    Mumford, B.R.2    Thompson, V.3
  • 29
    • 0029963145 scopus 로고    scopus 로고
    • A novel X-linked gene, G4.5. is responsible for Barth syndrome
    • Bione S, D'Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996; 12:385-389.
    • (1996) Nat Genet , vol.12 , pp. 385-389
    • Bione, S.1    D'Adamo, P.2    Maestrini, E.3
  • 30
    • 0035814967 scopus 로고    scopus 로고
    • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
    • Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 2001; 103:1256-1263.
    • (2001) Circulation , vol.103 , pp. 1256-1263
    • Ichida, F.1    Tsubata, S.2    Bowles, K.R.3
  • 31
    • 12244251043 scopus 로고    scopus 로고
    • Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction
    • Chen R, Tsuji T, Ichida F, et al. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 2002; 77:319-325.
    • (2002) Mol Genet Metab , vol.77 , pp. 319-325
    • Chen, R.1    Tsuji, T.2    Ichida, F.3
  • 32
    • 34247876043 scopus 로고    scopus 로고
    • Marziliano N, Mannarino S, Nespoli L, et al. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet A 2007; 143A:907-915. This is an excellent report of an affected child demonstrating the combined phenotypic effects of mutations in two noncompaction loci, TAZ and LDB3.
    • Marziliano N, Mannarino S, Nespoli L, et al. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet A 2007; 143A:907-915. This is an excellent report of an affected child demonstrating the combined phenotypic effects of mutations in two noncompaction loci, TAZ and LDB3.
  • 33
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction
    • Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction. J Am Coll Cardiol 2003; 41:2014-2027.
    • (2003) J Am Coll Cardiol , vol.41 , pp. 2014-2027
    • Vatta, M.1    Mohapatra, B.2    Jimenez, S.3
  • 34
    • 10744231114 scopus 로고    scopus 로고
    • A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C
    • Arimura T, Hayashi T, Terada H, et al. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 2004; 279:6746-6752.
    • (2004) J Biol Chem , vol.279 , pp. 6746-6752
    • Arimura, T.1    Hayashi, T.2    Terada, H.3
  • 35
    • 13144260646 scopus 로고    scopus 로고
    • Mutations in ZASP define a novel form of muscular dystrophy in humans
    • Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005; 57:269-276.
    • (2005) Ann Neurol , vol.57 , pp. 269-276
    • Selcen, D.1    Engel, A.G.2
  • 36
    • 3042519038 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
    • Hermida-Prieto M, Monserrat L, Castro-Beiras A, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 2004; 94:50-54.
    • (2004) Am J Cardiol , vol.94 , pp. 50-54
    • Hermida-Prieto, M.1    Monserrat, L.2    Castro-Beiras, A.3
  • 37
    • 36348947913 scopus 로고    scopus 로고
    • Left Ventricular Noncompaction Associated With Mutations in Cardiac Na Channel Gene SCN5A [abstract]
    • 15 November, Chicago, IL: American Heart Association;
    • Makita N, Sasaki K, Yokoshiki H, et al. Left Ventricular Noncompaction Associated With Mutations in Cardiac Na Channel Gene SCN5A [abstract]. In: Programme and Abstracts of the American Heart Association Scientific Sessions; 12-15 November 2006; Chicago, IL: American Heart Association; 2006.
    • (2006) Programme and Abstracts of the American Heart Association Scientific Sessions , vol.12
    • Makita, N.1    Sasaki, K.2    Yokoshiki, H.3
  • 38
    • 36348980393 scopus 로고    scopus 로고
    • Hoedemaekers YM, Kaliskan K, ten Cate FJ, et al. Genetic analysis of hypertrophic cardiomyopathy genes in noncompaction cardiomyopathy patients: could NCCM be a phenotypic variant of HCM? [abstract]. In: Programme and Abstracts of the American Society of Human Genetics Annual Meeting; 9-13 October 2006; New Orleans, LA: American Society of Human Genetics; 2006.
    • Hoedemaekers YM, Kaliskan K, ten Cate FJ, et al. Genetic analysis of hypertrophic cardiomyopathy genes in noncompaction cardiomyopathy patients: could NCCM be a phenotypic variant of HCM? [abstract]. In: Programme and Abstracts of the American Society of Human Genetics Annual Meeting; 9-13 October 2006; New Orleans, LA: American Society of Human Genetics; 2006.
  • 39
    • 2542486394 scopus 로고    scopus 로고
    • Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12
    • Kenton AB, Sanchez X, Coveler KJ, et al. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12. Mol Genet Metab 2004; 82:162-166.
    • (2004) Mol Genet Metab , vol.82 , pp. 162-166
    • Kenton, A.B.1    Sanchez, X.2    Coveler, K.J.3
  • 40
    • 22244434476 scopus 로고    scopus 로고
    • 1p deletion syndrome: Further clinical characterization of a common, important and often missed cause of developmental delay/mental retardation [abstract]
    • Battaglia A, Viskochil DH, Lewin SO, et al. 1p deletion syndrome: further clinical characterization of a common, important and often missed cause of developmental delay/mental retardation [abstract]. Proc Greenwood Genet Center 2004; 23:140.
    • (2004) Proc Greenwood Genet Center , vol.23 , pp. 140
    • Battaglia, A.1    Viskochil, D.H.2    Lewin, S.O.3
  • 41
    • 36348951946 scopus 로고    scopus 로고
    • Brailey LL, Powell CM, Carey JC, et al. Noncompaction of the ventricular myocardium in patients with 1p36 deletion [abstract]. In: Programme and Abstracts of the American College of Medical Genetics Annual Clinical Meeting; 23-26 March 2006; San Diego, CA: American College of Medical Genetics: 2006.
    • Brailey LL, Powell CM, Carey JC, et al. Noncompaction of the ventricular myocardium in patients with 1p36 deletion [abstract]. In: Programme and Abstracts of the American College of Medical Genetics Annual Clinical Meeting; 23-26 March 2006; San Diego, CA: American College of Medical Genetics: 2006.
  • 42
    • 34248578027 scopus 로고    scopus 로고
    • Thienpont B, Mertens L, Buyse G, et al. Left-ventricular noncompaction in a patient with monosomy 1p36. Eur J Med Genet 2007; 50:233-236. This is the first published report providing evidence for a noncompaction locus on 1p36.
    • Thienpont B, Mertens L, Buyse G, et al. Left-ventricular noncompaction in a patient with monosomy 1p36. Eur J Med Genet 2007; 50:233-236. This is the first published report providing evidence for a noncompaction locus on 1p36.
  • 43
    • 33744815237 scopus 로고    scopus 로고
    • Kanemoto N, Horigome H, Nakayama J, et al. Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet 2006; 49:247-253. This is the first report providing evidence for a noncompaction locus on 1q43.
    • Kanemoto N, Horigome H, Nakayama J, et al. Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet 2006; 49:247-253. This is the first report providing evidence for a noncompaction locus on 1q43.
  • 44
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    • Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10:189-194.
    • (2001) Hum Mol Genet , vol.10 , pp. 189-194
    • Tiso, N.1    Stephan, D.A.2    Nava, A.3
  • 45
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • Priori SG, Napolitano C, Tiso N, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103:196-200.
    • (2001) Circulation , vol.103 , pp. 196-200
    • Priori, S.G.1    Napolitano, C.2    Tiso, N.3
  • 46
    • 36348954332 scopus 로고    scopus 로고
    • A novel missense mutation in cardiac ryanodine receptor gene as a possible cause of hypertrophic cardiomyopathy: Evidence from familial analysis [abstract]
    • 15 November, Chicago, IL: American Heart Association;
    • Fujino N, Ino H, Hayashi K, et al. A novel missense mutation in cardiac ryanodine receptor gene as a possible cause of hypertrophic cardiomyopathy: evidence from familial analysis [abstract]. In: Programme and Abstracts of the American Heart Association Scientific Sessions; 12-15 November 2006; Chicago, IL: American Heart Association; 2006.
    • (2006) Programme and Abstracts of the American Heart Association Scientific Sessions , vol.12
    • Fujino, N.1    Ino, H.2    Hayashi, K.3
  • 47
    • 84870650314 scopus 로고    scopus 로고
    • Accessed 19 September 2007
    • UCSC Genome Bioinformatics. http://genome.ucsc.edu/. [Accessed 19 September 2007]
    • UCSC Genome Bioinformatics
  • 48
    • 0142058043 scopus 로고    scopus 로고
    • Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
    • Mohapatra B, Jimenez S, Lin JH, et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab 2003; 80:207-215.
    • (2003) Mol Genet Metab , vol.80 , pp. 207-215
    • Mohapatra, B.1    Jimenez, S.2    Lin, J.H.3
  • 49
    • 0032771725 scopus 로고    scopus 로고
    • Ventricular noncompaction and distal chromosome 5q deletion
    • Pauli RM, Scheib-Wixted S, Cripe L, et al. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 1999; 85:419-423.
    • (1999) Am J Med Genet , vol.85 , pp. 419-423
    • Pauli, R.M.1    Scheib-Wixted, S.2    Cripe, L.3
  • 50
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281:108-111.
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3
  • 51
    • 0033430230 scopus 로고    scopus 로고
    • Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    • Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104:1567-1573.
    • (1999) J Clin Invest , vol.104 , pp. 1567-1573
    • Benson, D.W.1    Silberbach, G.M.2    Kavanaugh-McHugh, A.3
  • 52
    • 11144357335 scopus 로고    scopus 로고
    • Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
    • Pashmforoush M, Lu JT, Chen H, et al. Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 2004; 117:373-386.
    • (2004) Cell , vol.117 , pp. 373-386
    • Pashmforoush, M.1    Lu, J.T.2    Chen, H.3
  • 53
    • 33646083216 scopus 로고    scopus 로고
    • Johnson MT, Zhang S, Gilkeson R, et al. Intrafamilial variability of noncompaction of the ventricular myocardium. Am Heart J 2006; 151:1012.e7-14. Describes large family with NCLV diagnosed by cardiac magnetic resonance imaging with phenotypic variability.
    • Johnson MT, Zhang S, Gilkeson R, et al. Intrafamilial variability of noncompaction of the ventricular myocardium. Am Heart J 2006; 151:1012.e7-14. Describes large family with NCLV diagnosed by cardiac magnetic resonance imaging with phenotypic variability.
  • 54
    • 36348977985 scopus 로고    scopus 로고
    • Zaragoza MV, Johnson MT, Lynn A, et al. A locus for autosomal dominant isolated noncompaction of the ventricular myocardium maps to chromosome 11 [abstract]. In: Programme and Abstracts of the American Society of Human Genetics Annual Meeting; 26-30 October 2004; Toronto: American Society of Human Genetics; 2004.
    • Zaragoza MV, Johnson MT, Lynn A, et al. A locus for autosomal dominant isolated noncompaction of the ventricular myocardium maps to chromosome 11 [abstract]. In: Programme and Abstracts of the American Society of Human Genetics Annual Meeting; 26-30 October 2004; Toronto: American Society of Human Genetics; 2004.
  • 55
    • 33749061065 scopus 로고    scopus 로고
    • Schlame M, Ren M. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett 2006; 580:5450-5455.
    • Schlame M, Ren M. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett 2006; 580:5450-5455.
  • 57
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114:925-931.
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scaglia, F.1    Towbin, J.A.2    Craigen, W.J.3
  • 58
    • 33947285487 scopus 로고    scopus 로고
    • Cardiac manifestations in oxidative phosphorylation disorders of childhood
    • Comprehensive study investigating the cardiac phenotype of patients with mitochondrial disease
    • Yaplito-Lee J, Weintraub R, Jamsen K, et al. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr 2007; 150: 407-411. Comprehensive study investigating the cardiac phenotype of patients with mitochondrial disease.
    • (2007) J Pediatr , vol.150 , pp. 407-411
    • Yaplito-Lee, J.1    Weintraub, R.2    Jamsen, K.3
  • 59
    • 0037108211 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
    • Stollberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002; 90:899-902.
    • (2002) Am J Cardiol , vol.90 , pp. 899-902
    • Stollberger, C.1    Finsterer, J.2    Blazek, G.3
  • 60
    • 34250889413 scopus 로고    scopus 로고
    • Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction
    • Case report describing the association of NCLV and complex II disease
    • Davili Z, Johar S, Hughes C, et al. Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction. Eur J Pediatr 2006; 166:867-870. Case report describing the association of NCLV and complex II disease.
    • (2006) Eur J Pediatr , vol.166 , pp. 867-870
    • Davili, Z.1    Johar, S.2    Hughes, C.3
  • 61
    • 0034998813 scopus 로고    scopus 로고
    • Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy
    • Finsterer J, Stollberger C, Kopsa W, Jaksch M. Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy. Can J Cardiol 2001; 17:464-466.
    • (2001) Can J Cardiol , vol.17 , pp. 464-466
    • Finsterer, J.1    Stollberger, C.2    Kopsa, W.3    Jaksch, M.4
  • 62
    • 34250783255 scopus 로고    scopus 로고
    • Finsterer J, Stollberger C, Steger C, Cozzarini W. Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy. J Electrocardiol 2007; 40:352-354. This report describes an interesting patient with nail-patella syndrome and mtDNA A3243G mutation.
    • Finsterer J, Stollberger C, Steger C, Cozzarini W. Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy. J Electrocardiol 2007; 40:352-354. This report describes an interesting patient with nail-patella syndrome and mtDNA A3243G mutation.
  • 63
    • 5644291815 scopus 로고    scopus 로고
    • Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy
    • Finsterer J, Stollberger C, Schubert B. Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy. Cardiology 2004; 102:228-230.
    • (2004) Cardiology , vol.102 , pp. 228-230
    • Finsterer, J.1    Stollberger, C.2    Schubert, B.3
  • 64
    • 0033919681 scopus 로고    scopus 로고
    • Complex mitochondriopathy associated with 4 mtDNA transitions
    • Finsterer J, Bittner R, Bodingbauer M, et al. Complex mitochondriopathy associated with 4 mtDNA transitions. Eur Neurol 2000; 44:37-41.
    • (2000) Eur Neurol , vol.44 , pp. 37-41
    • Finsterer, J.1    Bittner, R.2    Bodingbauer, M.3
  • 65
    • 0033525773 scopus 로고    scopus 로고
    • Mitochondrial diseases in man and mouse
    • Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283:1482-1488.
    • (1999) Science , vol.283 , pp. 1482-1488
    • Wallace, D.C.1
  • 66
    • 4043152735 scopus 로고    scopus 로고
    • Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/noncompaction
    • Finsterer J, Schoser B, Stollberger C. Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/noncompaction. Acta Cardiol 2004; 59:453-456.
    • (2004) Acta Cardiol , vol.59 , pp. 453-456
    • Finsterer, J.1    Schoser, B.2    Stollberger, C.3
  • 67
    • 36349025196 scopus 로고    scopus 로고
    • Tanpaiboon P, Callahan PF, Sloan J, et al. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C deficiency [abstract]. In: Programme and Abstracts of the American Society of Human Genetics Annual Meeting; 9-13 October 2006; New Orleans, LA: American Society of Human Genetics; 2006.
    • Tanpaiboon P, Callahan PF, Sloan J, et al. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C deficiency [abstract]. In: Programme and Abstracts of the American Society of Human Genetics Annual Meeting; 9-13 October 2006; New Orleans, LA: American Society of Human Genetics; 2006.
  • 68
    • 0029969701 scopus 로고    scopus 로고
    • Left ventricular noncompaction in a patient with Becker's muscular dystrophy
    • Stollberger C, Finsterer J, Blazek G, Bittner RE. Left ventricular noncompaction in a patient with Becker's muscular dystrophy. Heart 1996; 76:380.
    • (1996) Heart , vol.76 , pp. 380
    • Stollberger, C.1    Finsterer, J.2    Blazek, G.3    Bittner, R.E.4
  • 69
    • 34948911499 scopus 로고    scopus 로고
    • Non-compaction on autopsy in Duchenne muscular dystrophy
    • Finsterer J, Stollberger C, Feichtinger H. Non-compaction on autopsy in Duchenne muscular dystrophy. Cardiology 2006; 108:161-163.
    • (2006) Cardiology , vol.108 , pp. 161-163
    • Finsterer, J.1    Stollberger, C.2    Feichtinger, H.3
  • 70
    • 33645473866 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
    • Corrado G, Checcarelli N, Santarone M, et al. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. Cardiology 2006; 105:142-145.
    • (2006) Cardiology , vol.105 , pp. 142-145
    • Corrado, G.1    Checcarelli, N.2    Santarone, M.3
  • 71
    • 21744448369 scopus 로고    scopus 로고
    • Noncompaction in myotonic dystrophy type 1 on cardiac MRI
    • Finsterer J, Stollberger C, Kopsa W. Noncompaction in myotonic dystrophy type 1 on cardiac MRI. Cardiology 2005; 103:167-168.
    • (2005) Cardiology , vol.103 , pp. 167-168
    • Finsterer, J.1    Stollberger, C.2    Kopsa, W.3
  • 72
    • 36348960608 scopus 로고    scopus 로고
    • OMIM Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/ omim/. [Accessed 19 September 2007]
    • OMIM Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/ omim/. [Accessed 19 September 2007]
  • 73
    • 2142759576 scopus 로고    scopus 로고
    • Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner's syndrome
    • Van Heerde M, Hruda J, Hazekamp MG. Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner's syndrome. Cardiol Young 2003; 13:364-366.
    • (2003) Cardiol Young , vol.13 , pp. 364-366
    • Van Heerde, M.1    Hruda, J.2    Hazekamp, M.G.3
  • 74
    • 29344441240 scopus 로고    scopus 로고
    • Left ventricular noncompaction cardiomyopathy in association with trisomy 13
    • McMahon CJ, Chang AC, Pignatelli RH, et al. Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol 2005; 26:477-479.
    • (2005) Pediatr Cardiol , vol.26 , pp. 477-479
    • McMahon, C.J.1    Chang, A.C.2    Pignatelli, R.H.3
  • 75
    • 0037700187 scopus 로고    scopus 로고
    • Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: A new case of MLS syndrome (microphthalmia with linear skin defects)
    • Kherbaoui-Redouani L, Eschard C, Bednarek N, et al. Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphthalmia with linear skin defects). Arch Pediatr 2003; 10:224-226.
    • (2003) Arch Pediatr , vol.10 , pp. 224-226
    • Kherbaoui-Redouani, L.1    Eschard, C.2    Bednarek, N.3
  • 76
    • 0035293377 scopus 로고    scopus 로고
    • Noncompaction of the myocardium associated with Roifman syndrome
    • Mandel K, Grunebaum E, Benson L. Noncompaction of the myocardium associated with Roifman syndrome. Cardiol Young 2001; 11:240-243.
    • (2001) Cardiol Young , vol.11 , pp. 240-243
    • Mandel, K.1    Grunebaum, E.2    Benson, L.3
  • 77
    • 0031010501 scopus 로고    scopus 로고
    • Noncompaction of the ventricular myocardium in Melnick-Needles syndrome
    • Wong JA, Bofinger MK. Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. Am J Med Genet 1997; 71:72-75.
    • (1997) Am J Med Genet , vol.71 , pp. 72-75
    • Wong, J.A.1    Bofinger, M.K.2
  • 78
    • 0026507120 scopus 로고
    • Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan's phenotype
    • Amann G, Sherman FS. Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan's phenotype. Pediatr Pathol 1992; 12:83-92.
    • (1992) Pediatr Pathol , vol.12 , pp. 83-92
    • Amann, G.1    Sherman, F.S.2
  • 79
    • 33750503444 scopus 로고    scopus 로고
    • Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome)
    • Matsumoto T, Watanabe A, Migita M, et al. Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). J Nippon Med Sch 2006; 73:285-288.
    • (2006) J Nippon Med Sch , vol.73 , pp. 285-288
    • Matsumoto, T.1    Watanabe, A.2    Migita, M.3
  • 80
    • 34748865524 scopus 로고    scopus 로고
    • Classification of the cardiomyopathies: A position statement from the european society of cardiology working group on myocardial and pericardial diseases
    • in press
    • Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases. Eur Heart J 2007 (in press).
    • (2007) Eur Heart J
    • Elliott, P.1    Andersson, B.2    Arbustini, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.