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Cardiovascular Genetics and Genomics pp 389–412Cite as

Inherited Cardiac Muscle Disorders: Left Ventricular Noncompaction

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Abstract

Left ventricular noncompaction (LVNC) is a type of structural cardiac abnormality that displays genotypic and phenotypic heterogeneity. Morphologically, it is characterized by prominent ventricular trabeculae and deep intertrabecular recesses. It has traditionally been thought to be related to intrauterine arrest of myocardial development. While it is classified as a primary cardiomyopathy of genetic origin by the American Heart Association, the European Society of Cardiology classification defines it as an unclassified cardiomyopathy. Originally thought to be a rare disease seen mainly in children, there has been increasing identification in adults likely due to increased awareness and advances in cardiovascular imaging. Furthermore, although it is often associated with other congenital cardiac anomalies it can also be seen in association with dilated, hypertrophic and restrictive cardiomyopathies and in the absence of any cardiac defects.

Keywords

  • Arrhythmia
  • Embolism
  • Cardiomyopathy
  • Heart failure
  • Noncompaction
  • Trabeculations

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References

  1. Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990;82(2):507–13.

    CrossRef  CAS  PubMed  Google Scholar 

  2. Dusek J, Ostadal B, Duskova M. Postnatal persistence of spongy myocardium with embryonic blood supply. Arch Pathol. 1975;99(6):312–7.

    CAS  PubMed  Google Scholar 

  3. 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(14):1807–16.

    CrossRef  PubMed  Google Scholar 

  4. Jenni R, Goebel N, Tartini R, et al. Persisting myocardial sinusoids of both ventricles as an isolated anomaly: echocardiographic, angiographic, and pathologic anatomical findings. Cardiovasc Intervent Radiol. 1986;9(3):127–31.

    CrossRef  CAS  PubMed  Google Scholar 

  5. 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. 2008;29(2):270–6.

    CrossRef  PubMed  Google Scholar 

  6. Lauer RM, Fink HP, Petry EL, et al. Angiographic demonstration of intramyocardial sinusoids in pulmonary-valve atresia with intact ventricular septum and hypoplastic right ventricle. N Engl J Med. 1964;271:68–72.

    CrossRef  CAS  PubMed  Google Scholar 

  7. Ozkutlu S, Ayabakan C, Celiker A, et al. Noncompaction of ventricular myocardium: a study of twelve patients. J Am Soc Echocardiogr. 2002;15(12):1523–8.

    CrossRef  PubMed  Google Scholar 

  8. Biagini E, Ragni L, Ferlito M, et al. Different types of cardiomyipathy associated with isolated ventricular noncompaction. Am J Cardiol. 2006;98(6):821–4.

    CrossRef  PubMed  Google Scholar 

  9. Ritter M, Oechslin E, Sutsch G, et al. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc. 1997;72(1):26–31.

    CrossRef  CAS  PubMed  Google Scholar 

  10. Gati S, Chandra N, Bennett RL, et al. Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? Heart. 2013;99(6):401–8.

    CrossRef  CAS  PubMed  Google Scholar 

  11. Gati S, Papadakis M, Van Niekerk N, et al. Increased left ventricular trabeculation in individuals with sickle cell anaemia: physiology or pathology? Int J Cardiol. 2013;168(2):1658–60.

    CrossRef  CAS  PubMed  Google Scholar 

  12. Harvey RP. Patterning the vertebrate heart. Nat Rev Genet. 2002;3(7):544–56.

    CrossRef  CAS  PubMed  Google Scholar 

  13. Srivastava D, Olson EN. A genetic blueprint for cardiac development. Nature. 2000;407(6801):221–6.

    CrossRef  CAS  PubMed  Google Scholar 

  14. Agmon Y, Connolly HM, Olson LJ, et al. Noncompaction of the ventricular myocardium. J Am Soc Echocardiogr. 1999;12(10):859–63.

    CrossRef  CAS  PubMed  Google Scholar 

  15. Eisenberg LM, Markwald RR. Cellular recruitment and the development of the myocardium. Dev Biol. 2004;274(2):225–32.

    CrossRef  CAS  PubMed  Google Scholar 

  16. Bernanke DH, Velkey JM. Development of the coronary blood supply: changing concepts and current ideas. Anat Rec. 2002;269(4):198–208.

    CrossRef  PubMed  Google Scholar 

  17. Freedom RM, Yoo SJ, Perrin D, et al. The morphological spectrum of ventricular noncompaction. Cardiol Young. 2005;15(4):345–64.

    CrossRef  PubMed  Google Scholar 

  18. Zambrano E, Marshalko SJ, Jaffe CC, et al. Isolated noncompaction of the ventricular myocardium: clinical and molecular aspects of a rare cardiomyopathy. Lab Investig. 2002;82(2):117–22.

    CrossRef  PubMed  Google Scholar 

  19. Oechslin E, 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(2):493–500.

    CrossRef  CAS  PubMed  Google Scholar 

  20. Rigopoulos A, Rizos IK, Aggeli C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology. 2002;98(1–2):25–32.

    CrossRef  PubMed  Google Scholar 

  21. Jenni R, Oechslin E, Schneider J, et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86(6):666–71.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  22. 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(3):257–65.

    CrossRef  CAS  PubMed  Google Scholar 

  23. 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(4):868–72.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  24. Stollberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol. 2002;90(8):899–902.

    CrossRef  PubMed  Google Scholar 

  25. Markovic NS, Dimkovic N, Damjanovic T, et al. Isolated ventricular noncompaction in patients with chronic renal failure. Clin Nephrol. 2008;70(1):72–6.

    CrossRef  CAS  PubMed  Google Scholar 

  26. Arbustini E, Favalli V, Narula N, et al. Left ventricular noncompaction. A distinct genetic cardiomyopathy? J Am Coll Cardiol. 2016;68(9):949–66.

    CrossRef  PubMed  Google Scholar 

  27. Allenby PA, Gould NS, Schwartz MF, et al. Dysplastic cardiac development presenting as cardiomyopathy. Arch Pathol Lab Med. 1988;112(12):1255–8.

    CAS  PubMed  Google Scholar 

  28. Boyd MT, Seward JB, Tajik AJ, et al. Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for evaluation of mural thrombi by two-dimensional echocardiography. J Am Coll Cardiol. 1987;9(2):323–6.

    CrossRef  CAS  PubMed  Google Scholar 

  29. Engberding R, Bender F. Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. Am J Cardiol. 1984;53(11):1733–4.

    CrossRef  CAS  PubMed  Google Scholar 

  30. Junga G, Kneifel S, Von Smekal A, et al. Myocardial ischaemia in children with isolated ventricular non-compaction. Eur Heart J. 1999;20(12):910–6.

    CrossRef  CAS  PubMed  Google Scholar 

  31. Jenni R, Oechslin EN, van der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart. 2007;93(1):11–5.

    CrossRef  CAS  PubMed  Google Scholar 

  32. Soler R, Rodriguez E, Monserrat L, et al. MRI of subendocardial perfusion deficits in isolated left ventricular noncompaction. J Comput Assist Tomogr. 2002;26(3):373–5.

    CrossRef  PubMed  Google Scholar 

  33. Toyono M, Kondo C, Nakajima Y, et al. Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compaction. Heart. 2001;86(1):E4.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  34. Hoedemaekers Y, Caliskan D, Majoor-Krakauer I, et al. Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J. 2007;28(22):2732–7.

    CrossRef  CAS  PubMed  Google Scholar 

  35. Klaassen S, Probst S, Oechslin E, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008;117(22):2893–901.

    CrossRef  CAS  PubMed  Google Scholar 

  36. 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(22):2720–3.

    CrossRef  CAS  PubMed  Google Scholar 

  37. 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(1):71–7.

    CrossRef  CAS  PubMed  Google Scholar 

  38. Digilio MC, Marino B, Bevilacqua M, et al. Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium. Am J Med Genet. 1999;85(1):90–1.

    CrossRef  CAS  PubMed  Google Scholar 

  39. 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(9):726–33.

    CrossRef  PubMed  Google Scholar 

  40. Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715–26.

    CrossRef  PubMed  Google Scholar 

  41. Zaragoza MV, Arbustini E, Narula J. Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr. 2007;19(46):619–27.

    CrossRef  PubMed  Google Scholar 

  42. Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001;103(9):1256–63.

    CrossRef  CAS  PubMed  Google Scholar 

  43. 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;143(9):907–15.

    CrossRef  CAS  Google Scholar 

  44. 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(11):2014–27.

    CrossRef  CAS  PubMed  Google Scholar 

  45. Luedde M, Ehlermann P, Weichenhan D, et al. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. Cardiovasc Res. 2010;86(3):452–60.

    CrossRef  CAS  PubMed  Google Scholar 

  46. Luxan G, Casanova J, Martinez-Poveda B, et al. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nature Med. 2013;19(2):193–201.

    CrossRef  CAS  PubMed  Google Scholar 

  47. Arndt A, Schafer S, Drenckhahn J, et al. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013;93(1):67–77.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  48. Probst S, Oechslin E, Schuler P. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet. 2011;4(4):367–74.

    CrossRef  CAS  PubMed  Google Scholar 

  49. Sandhu R, Finkelhor R, Gunawardena D, et al. Prevalence and characteristics of left ventricular noncompaction in a community hospital cohort of patients with systolic dysfunction. Echocardiography. 2008;25(1):8–12.

    PubMed  Google Scholar 

  50. 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(1):50–4.

    CrossRef  PubMed  Google Scholar 

  51. 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(4):385–9.

    CrossRef  CAS  PubMed  Google Scholar 

  52. Chen R, Tsuji T, Ichida F, Bowles KR, et al. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab. 2002;77(4):319–25.

    CrossRef  CAS  PubMed  Google Scholar 

  53. 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(2):162–6.

    CrossRef  CAS  PubMed  Google Scholar 

  54. 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(21):2672–8.

    CrossRef  PubMed  Google Scholar 

  55. Thienpont B, Mertens L, Buyse G, et al. Left-ventricular non-compaction in a patient with monosomy 1p36. Eur J Med Genet. 2007;50(3):233–6.

    CrossRef  PubMed  Google Scholar 

  56. Kanemoto N, Horigome H, Nakayama J, et al. Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet. 2006;49(3):247–53.

    CrossRef  PubMed  Google Scholar 

  57. 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(11):1567–73.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  58. Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 1998;281(5373):108–11.

    CrossRef  CAS  PubMed  Google Scholar 

  59. Pauli RM, Scheib-Wixted S, Cripe L, et al. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet. 1999;85(4):419–23.

    CrossRef  CAS  PubMed  Google Scholar 

  60. 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(3):373–86.

    CrossRef  CAS  PubMed  Google Scholar 

  61. Schlame M, Ren M. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett. 2006;580(23):5450–5.

    CrossRef  CAS  PubMed  Google Scholar 

  62. Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004;114(4):925–31.

    CrossRef  PubMed  Google Scholar 

  63. Yaplito-Lee J, Weintraub R, Jamsen K, et al. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr. 2007;150(4):407–11.

    CrossRef  CAS  PubMed  Google Scholar 

  64. Davili Z, Johar S, Hughes C, et al. Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction. Eur J Pediatr. 2007;166(8):867–70.

    CrossRef  PubMed  Google Scholar 

  65. Finsterer J, Stollberger C, Kopsa W, et al. Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber’s hereditary optic neuropathy. Can J Cardiol. 2001;17(4):464–6.

    CAS  PubMed  Google Scholar 

  66. Finsterer J, Stollberger C, Feichtinger H. Non-compaction on autopsy in Duchenne muscular dystrophy. Cardiology. 2007;108(3):161–3.

    CrossRef  PubMed  Google Scholar 

  67. Finsterer J, Stollberger C, Steger C, et al. Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy. J Electrocardiol. 2007;40(4):352–4.

    CrossRef  PubMed  Google Scholar 

  68. Finsterer J, Schoser B, Stollberger C. Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction. Acta Cardiol. 2004;59(4):453–6.

    CrossRef  PubMed  Google Scholar 

  69. Finsterer J, Stollberger C, Schubert B. Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy. Cardiology. 2004;102(4):228–30.

    CrossRef  PubMed  Google Scholar 

  70. Finsterer J, Bittner R, Bodingbauer M, et al. Complex mitochondriopathy associated with 4 mtDNA transitions. Eur Neurol. 2000;44(1):37–41.

    CrossRef  CAS  PubMed  Google Scholar 

  71. Wallace DC. Mitochondrial diseases in man and mouse. Science. 1999;283(5407):1482–8.

    CrossRef  CAS  PubMed  Google Scholar 

  72. Tanpaiboon P, Callahan PF, Sloan J, et al. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C deficiency. Programme and abstracts of the American Society of Human Genetics Annual Meeting. 2006. Ref Type: Abstract.

    Google Scholar 

  73. Lofiego C, Biagini E, Pasquale F, et al. Wide spectrum of presentation and variable outcomes of isolated left ventricular non-compaction. Heart. 2007;93(1):65–71.

    CrossRef  CAS  PubMed  Google Scholar 

  74. Stollberger C, Finsterer J, Blazek G, et al. Left ventricular non-compaction in a patient with Becker’s muscular dystrophy. Heart. 1996;76(4):380.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  75. 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(3):142–5.

    CrossRef  PubMed  Google Scholar 

  76. Finsterer J, Stolberger C, Kopsa W. Noncompaction in myotonic dystrophy type 1 on cardiac MRI. Cardiology. 2005;103(3):167–8.

    CrossRef  CAS  PubMed  Google Scholar 

  77. OMIM Online Mendelian Inheritance in Man. 2017. Ref Type: Internet Communication.

    Google Scholar 

  78. 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(4):364–6.

    PubMed  Google Scholar 

  79. McMahon CJ, Chang AC, Pignatelli RH, et al. Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol. 2005;26(4):477–9.

    CrossRef  CAS  PubMed  Google Scholar 

  80. Kherbaoui-Redouani L, Eschard C, Bednarek N, et al. Cutaneous aplasia, noncompaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects). Arch Pediatr. 2003;10(3):224–6.

    CrossRef  CAS  PubMed  Google Scholar 

  81. Mandel K, Grunebaum E, Benson L. Noncompaction of the myocardium associated with Roifman syndrome. Cardiol Young. 2001;11(2):240–3.

    CrossRef  CAS  PubMed  Google Scholar 

  82. Wong JA, Bofinger MK. Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. Am J Med Genet. 1997;71(1):72–5.

    CrossRef  CAS  PubMed  Google Scholar 

  83. Amann G, Sherman FS. Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan’s phenotype. Pediatr Pathol. 1992;12(1):83–92.

    CrossRef  CAS  PubMed  Google Scholar 

  84. 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(5):285–8.

    CrossRef  PubMed  Google Scholar 

  85. Maltagliati A, Pepi M. Isolated noncompaction of the myocardium: multiplane transesophageal echocardiography diagnosis in an adult. J Am Soc Echocardiogr. 2000;13(11):1047–9.

    CrossRef  CAS  PubMed  Google Scholar 

  86. 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(1):233–40.

    CrossRef  CAS  PubMed  Google Scholar 

  87. Weiford BC, Subbarao VD, Mulhern KM. Noncompaction of the ventricular myocardium. Circulation. 2004;109(24):2965–71.

    CrossRef  PubMed  Google Scholar 

  88. Hook S, Ratliff NB, Rosenkranz E, et al. Isolated noncompaction of the ventricular myocardium. Pediatr Cardiol. 1996;17(1):43–5.

    CrossRef  CAS  PubMed  Google Scholar 

  89. Reynen K, Bachmann K, Singer H. Spongy myocardium. Cardiology. 1997;88(6):601–2.

    CrossRef  CAS  PubMed  Google Scholar 

  90. Yasukawa K, Terai M, Honda A, et al. Isolated noncompaction of ventricular myocardium associated with fatal ventricular fibrillation. Pediatr Cardiol. 2001;22(6):512–4.

    CrossRef  CAS  PubMed  Google Scholar 

  91. Gati S, Papadakis M, Papamichael ND, et al. Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations. Circulation. 2014;130(6):475–83.

    CrossRef  PubMed  Google Scholar 

  92. Oechslin E, Jenni R. Left ventricular noncompaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J. 2011;32(12):1446–56.

    CrossRef  PubMed  Google Scholar 

  93. Finsterer J, Stollberger C. Definite, probable, or possible left ventricular hypertrabeculation/noncompaction. Int J Cardiol. 2008;123(2):175–6.

    CrossRef  PubMed  Google Scholar 

  94. Koo BK, Choi D, Ha JW, et al. Isolated noncompaction of the ventricular myocardium: contrast echocardiographic findings and review of the literature. Echocardiography. 2002;19(2):153–6.

    CrossRef  PubMed  Google Scholar 

  95. Conces DJ, Ryan T, Tarver RD. Noncompaction of ventricular myocardium: CT appearance. AJR Am J Roentgenol. 1991;156(4):717–8.

    CrossRef  PubMed  Google Scholar 

  96. Hamamichi Y, Ichida F, Hashimoto I, et al. Isolated noncompaction of the ventricular myocardium: ultrafast computed tomography and magnetic resonance imaging. Int J Cardiovasc Imaging. 2001;17(4):305–14.

    CrossRef  CAS  PubMed  Google Scholar 

  97. Daimon Y, Watanabe S, Takeda S, et al. Two-layered appearance of noncompaction of the ventricular myocardium on magnetic resonance imaging. Circ J. 2002;66(6):619–21.

    CrossRef  PubMed  Google Scholar 

  98. Petersen SE, Selvanayagam JB, Wiesmann F, et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. 2005;46(1):101–5.

    CrossRef  PubMed  Google Scholar 

  99. Jacquier A, Thuny F, Jop B, et al. Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J. 2010;31(9):1098–104.

    CrossRef  PubMed  Google Scholar 

  100. Melendez-Ramirez G, Castillo-Castellon F, Espinola-Zavaleta N, et al. Left ventricular noncompaction: a proposal of new diagnostic criteria by multidetector computed tomography. J Cardiovasc Comput Tomogr. 2012;6(5):346–54.

    CrossRef  PubMed  Google Scholar 

  101. Kohli SK, Pantazis AA, Shah JS, et al. Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J 2008;29, 1:89-95.

    Google Scholar 

  102. Lengyel M. Isolated left ventricular noncompaction – first description in a Hungarian patient. Orv Hetil. 2002;143(27):1651–3.

    PubMed  Google Scholar 

  103. Mizuno Y, Thompson TG, Guyon JR, et al. Desmuslin, an intermediate filament protein that interacts with alpha-dystrobrevin and desmin. Proc Natl Acad Sci U S A. 2001;98(11):6156–61.

    CrossRef  CAS  PubMed  PubMed Central  Google Scholar 

  104. Finsterer J, Stollberger C, Feichtinge H. Histological appearance of left ventricular hypertrabeculation/noncompaction. Cardiology. 2002;98(3):162–4.

    CrossRef  PubMed  Google Scholar 

  105. Calder AL, Co EE, Sage MD. Coronary arterial abnormalities in pulmonary atresia with intact ventricular septum. Am J Cardiol. 1987;59(5):436–42.

    CrossRef  CAS  PubMed  Google Scholar 

  106. Emmanouilides GC, Riemenschneider TA, Allen HD, et al. Hypoplastic left heart syndrome. In: Moss and Adams heart disease in infants, children and adolescents. Baltimore: Williams and Wilkins; 1995. p. 1133–53.

    Google Scholar 

  107. Emmanouilides GC, Riemenschneider TA, Allen HD, et al. Pulmonary atresia and intact ventricular septum. In: Moss and Adams heart disease in infants, children, and adolescents. Baltimore: Williams and Wilkins; 1995. p. 962–83.

    Google Scholar 

  108. Murphy RT, Thaman R, Gimeno Blanes J, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J. 2005;26(2):187–92.

    CrossRef  PubMed  Google Scholar 

  109. Stollberger C, Winkler-Dworak M, Blazek G, et al. Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol. 2007;121(2):189–93.

    CrossRef  PubMed  Google Scholar 

  110. Conraads V, Paelinck B, Vorlat A, et al. Isolated non-compaction of the left ventricle: a rare indication for transplantation. J Heart Lung Transplant. 2001;20(8):904–7.

    CrossRef  CAS  PubMed  Google Scholar 

  111. Stamou SC, Lefrak EA, Athari FC, et al. Heart transplantation in a patient with isolated noncompaction of the left ventricular myocardium. Ann Thorac Surg. 2004;77(5):1806–8.

    CrossRef  PubMed  Google Scholar 

  112. Hunt SA, Abraham WT, Chin MH, et al. 2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation. 2009;119(14):e391–479.

    CrossRef  PubMed  Google Scholar 

  113. Kobza R, Steffel J, Erne P, et al. Implantable cardioverter-defibrillator and cardiac resynchronization therapy in patients with left ventricular noncompaction. Heart Rhythm. 2010;7(11):1545–9.

    CrossRef  PubMed  Google Scholar 

  114. Stollberger C, Finsterer J. Thrombi in left ventricular hypertrabeculation/noncompaction – review of the literature. Acta Cardiol. 2004;59(3):341–4.

    CrossRef  PubMed  Google Scholar 

  115. Stollberger C, Finsterer J. Trabeculation and left ventricular hypertrabeculation/noncompaction. J Am Soc Echocardiogr. 2004;17(10):1120–1.

    CrossRef  PubMed  Google Scholar 

  116. Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy – a Heart Failure Society of America practice guideline. J Card Fail. 2009;15(2):83–97.

    CrossRef  PubMed  Google Scholar 

  117. Towbin J, Lorts A, Jefferies J. Left ventricular non-compaction cardiomyopathy. Lancet. 2015;386(9995):813–25.

    CrossRef  PubMed  Google Scholar 

  118. Finsterer J, Stollberger C, Blazek G. Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol. 2006;110(3):288–300.

    CrossRef  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Cardiology, Fiona Stanley Hospital, Perth, WA, Australia

    James Marangou

  2. University of East Anglia, Norwich Medical School, Norwich Research Park, Norwich, Norfolk, UK

    Michael Frenneaux

  3. Wesfarmers Chair in Cardiology, Harry Perkins Institute of Medical Research, Nedlands, WA, Australia

    Girish Dwivedi

Authors
  1. James Marangou
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  2. Michael Frenneaux
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  3. Girish Dwivedi
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Corresponding author

Correspondence to Girish Dwivedi .

Editor information

Editors and Affiliations

  1. Institute of Cancer & Genetics, University Hospital of Wales, Cardiff, United Kingdom

    Dhavendra Kumar

  2. Barts Heart Centre, St Bartholomew’s Hospital, London, United Kingdom

    Perry Elliott

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Marangou, J., Frenneaux, M., Dwivedi, G. (2018). Inherited Cardiac Muscle Disorders: Left Ventricular Noncompaction. In: Kumar, D., Elliott, P. (eds) Cardiovascular Genetics and Genomics. Springer, Cham. https://doi.org/10.1007/978-3-319-66114-8_12

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  • DOI: https://doi.org/10.1007/978-3-319-66114-8_12

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-66112-4

  • Online ISBN: 978-3-319-66114-8

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