Freedom RM, Yoo S-J, Perrin D, Petersen S, Anderson RH. The morphological spectrum of ventricular noncompaction. Cardiol Young 2005; 15: 345–364.
Weiford BC, Subbarao VD, Mulhern KM. Noncompaction of the ventricular myocardium. Circulation 2004; 109: 2965–2971.
Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am J Med Genet 2003; 119A: 162–167.
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.
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.
Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R. 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.
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.
Rigopoulos A, Rizos IK, Aggeli C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology 2002; 98: 25–32.
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.
Murphy RT, Thaman R, Blanes JG, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 2005; 26: 187–192.
Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of the ventricular myocardium. A study of eight cases. Circulation 1990; 82: 507–513.
Jenni R, Oechslin E, Schneider J, Jost CA, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001; 86: 666–671.
Petersen SE, Selvanayagam JB, Wiesmann F, et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 2005; 46: 101–105.
Stollberger C, Finsterer J, Kopsa W. Magnetic resonance imaging does not always confirm left ventricular noncompaction. Int J Cardiol 2007; 114: E48–9.
Moorman AF, Lamers WH. Development of the conduction system of the vertebrate heart. In: Harvey RP, Rosenthal N (eds). Heart Development. Academic Press, San Diego, 1999, pp. 195–207.
Sedmera D, Pexieder T, Vuillemin M, Thompson RP, Anderson RH. Developmental Patterning of the Myocardium. Anat Rec 2000; 258: 319–337.
Sedmera D, Thomas PS. Trabeculation in the human heart. Bioessays 1996; 18: 607.
Miquerol L, Dupays L, Thevenau-Ruissy M, et al. Gap junctional connexins in the developing mouse cardiac conduction system. Novartis Foundation Symposia 2003; 250: 80–98.
Junga G, Kneifel S, Von Smekal A, Steinert H, Bauersfeld U. Myocardial ischaemia in children with isolated ventricular non-compaction. Eur Heart J 1999; 20: 910–916.
Jenni R, Wyss CA, Oechslin EN, Kaufmann PA. Isolated ventricular noncompaction is associated with coronary microcirculatory dysfunction. J Am Coll Cardiol 2002; 39: 450–454.
Mikawa T, Borisov A, Brown AM, Fischman DA. Clonal analysis of cardiac morphogenesis in the chicken embryo using a replication-defective retrovirus: I. Formation of the ventricular myocardium. Dev Dyn 1992; 193: 11–23.
Chen J, Kubalak SW, Chien KR. Ventricular muscle-restricted targeting of the RXRalpha gene reveals a non-cell-autonomous requirement in cardiac chamber morphogenesis. Development 1998; 125: 1943–1949.
Stuckmann I, Evans S, Lassar AB. Erythropoietin and retinoic acid, secreted from the epicardium, are required for cardiac myocyte proliferation. Dev Biol 2003; 255: 334–349.
Lavine KJ, Yu K, White AC, et al. Endocardial and epicardial derived FGF signals regulate myocardial proliferation and differentiation in vivo. Dev Cell 2005; 8: 85–95.
Sucov HM, Dyson E, Gummeringer CL, Price J, Chien KR, Evans RM. RXR alpha mutant mice establish agenetic basis for vitamin A signalling in heart morphogenesis. Genes Dev 1994; 8: 1007–1008.
Bruneau BG. The developing heart and congenital heart defects: a make or break situation. Clin Genet 2003; 63: 252–261.
Brand T. Heart development: molecular insights into cardiac specification and early morphogenesis. Dev Biol 2003; 258: 1–19.
Harvey RP, Lai D, Elliott D, et al. Homeodomain factor Nkx2-5 in heart development and disease. Cold Spring Harb Symp Quant Biol 2002; 67: 107–114.
Olson EN, Schneider MD. Sizing up the heart: development redux in disease. Genes Dev 2003; 17: 1937–1956.
Olson EN. A decade of discoveries in cardiac biology. Nat Med 2004; 10: 467–474.
Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP. Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 1993; 119: 969.
Komuro I, Izumo S. Csx: a murine homeobox-containing gene specifically expressed in the developing heart. Proc Natl Acad Sci U S A 1993; 90: 8145–8149.
Bruneau BG, Nemer G, Schmitt JP, et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001; 106: 709–721.
Takeuchi JK, Mileikovskaia M, Koshiba-Takeuchi K, et al. Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development 2005; 132: 2463–2474.
Durocher D, Nemer M. Combinatorial interactions regulating cardiac transcription. Dev Genet 1998; 22: 250–262.
Kasahara H, Benson DW. Biochemical analysis of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 2004; 64: 40–51.
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.
Biben C, Harvey RP. Homeodomain factor Nkx2.5 controls left-right expression of bHLH gene eHAND during murine heart development. Genes Dev 1997; 11: 1357–1369.
Lyons I, Parsons LM, Hartley L, et al. Myogenic and morphogenic defects in heart tubes of murine embryos lacking the homeobox gene Nkx2-5. Genes Dev 1995; 9: 1654–1666.
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: 373–86.
Neuhaus H, Rosen V, Thies RS. Heart specific expression of mouse BMP-10 a novel member of the TGF-beta superfamily. Mech Dev 1999; 80: 181–184.
Chen H, Shi S, Acosta L, et al. BMP10 is essential for maintaining cardiac growth during murine cardiogenesis. Development 2004; 131: 2219–2231.
Gaussin V, Van de Putte T, Mishina Y, et al. Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3. Proc Natl Acad Sci U S A 2002; 99: 2878–2883.
Sato Y, Ferguson DG, Sako H, et al. Cardiac-specific overexpression of mouse cardiac calsequestrin is associated with depressed cardiovascular function and hypertrophy in transgenic mice. J Biol Chem 1998; 273: 28470–28477.
Xin HB, Senbonmatsu T, Cheng DS, et al. Oestrogen protects FKBP12.6 null mice from cardiac hypertrophy. Nature 2002; 416: 334–338.
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.
Bruneau BG, Logan M, Davis N, et al. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol 1999; 211: 100–108.
Digilio MC, Marino B, Bevilacqua M, Musolino AM, Giannotti A, Dallapiccola B. Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium. Am J Med Genet 1999; 85: 90–91.
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996; 12: 385–389.
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.
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.
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.
Pauli RM, Scheib-Wixted S, Cripe L, Izumo S, Sekhon GS. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 1999; 85: 419–423.
Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 2003; 42: 2014–2027.
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.
Guntheroth W, Komarniski C, Atkinson W, Flinger CL. Criterion for fetal spongiform cardiomyopathy:restrictive pathophysiology. Obstet Gyneacol 2002; 99: 882–885.