Journal of Cardiovascular Imaging

  • 제22권4호
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  • Pages.165-172
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  • 2014
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  • 2586-7210(pISSN)
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  • 2586-7296(eISSN)
한국심초음파학회 (Korean Society of Echocardiography)
권호 표지
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NON-COMPACT CARDIOMYOPATHY OR VENTRICULAR NON-COMPACT SYNDROME?

  • Yin, Lixue (Cardiovascular Ultrasound and Non-Invasive Cardiology Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital)
  • 투고 : 2014.10.13
  • 심사 : 2014.11.27
  • 발행 : 2014.12.27
⟨ 이전 논문 다음 논문 ⟩

초록

Ventricular myocardial non-compaction has been recognized and defined as a genetic cardiomyopathy by American Heart Association since 2006. The argument on the nomenclature and pathogenesis of this kind of ventricular myocardial non-compaction characterized by regional ventricular wall thickening and deep trabecular recesses often complicated with chronic heart failure, arrhythmia and thromboembolism and usually overlap the genetics and phenotypes of other kind of genetic or mixed cardiomyopathy still exist. The proper classification and correct nomenclature of the non-compact ventricles will contribute to the precisely and completely understanding of etiology and its related patho-physiological mechanism for a better risk stratification and more personalized therapy of the disease individually. All of the genetic heterogeneity and phenotypical overlap and the variety in histopathological, electromechanical and clinical presentation indicates that some of the cardiomyopathies might just be the different consequence of myocardial development variations related to gene mutation and phenotype of one or group genes induced by the interacted and disturbed process of gene modulation at different links of gene function expression and some other etiologies. This review aims to establish a new concept of "ventricular non-compaction syndrome" based on the demonstration of the current findings of etiology, epidemiology, histopathology and echocardiography related to the disorder of ventricular myocardial compaction and myocardial electromechanical function development.

키워드

참고문헌

  1. Bellet S, Gouley BA. Congenital heart disease with multiple cardiac anomalies: report of case showing aortic atresia, fibrous scar in myocardium and embryonal sinusoidal remains. Am J Med Sci 1932;183:458-65. https://doi.org/10.1097/00000441-193204000-00003
  2. Lauer RM, Fink HP, Petry EL, Dunn MI, Diehl AM. 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. https://doi.org/10.1056/NEJM196407092710203
  3. Feldt RH, Rahimtoola SH, Davis GD, Swan HJ, Titus JL. Anomalous ventricular myocardial patterns in a child with complex congenital heart disease. Am J Cardiol 1969;23:732-4. https://doi.org/10.1016/0002-9149(69)90037-X
  4. Dusek J, Ostadal B, Duskova M. Postnatal persistence of spongy myocardium with embryonic blood supply. Arch Pathol 1975;99:312-7.
  5. 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;53:1733-4. https://doi.org/10.1016/0002-9149(84)90618-0
  6. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB; American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. 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;113:1807-16. https://doi.org/10.1161/CIRCULATIONAHA.106.174287
  7. Oechslin E, Jenni R. Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J 2011;32:1446-56. https://doi.org/10.1093/eurheartj/ehq508
  8. Captur G, Nihoyannopoulos P. Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course. Int J Cardiol 2010;140:145-53. https://doi.org/10.1016/j.ijcard.2009.07.003
  9. Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 1997;72:257-65. https://doi.org/10.1002/(SICI)1096-8628(19971031)72:3<257::AID-AJMG2>3.0.CO;2-O
  10. Stollberger C, Finsterer J, Blazek G, Bittner RE. Left ventricular noncompaction in a patient with becker's muscular dystrophy. Heart 1996;76:380. https://doi.org/10.1136/hrt.76.4.380
  11. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990;82:507-13. https://doi.org/10.1161/01.CIR.82.2.507
  12. Hook S, Ratliff NB, Rosenkranz E, Sterba R. Isolated noncompaction of the ventricular myocardium. Pediatr Cardiol 1996;17:43-5. https://doi.org/10.1007/BF02505811
  13. Baars HF, van der Smagt JJ, Doevendans PA. Clinical cardiogenetics. London: Springer;2010. p.102-4.
  14. Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, Witsenburg M, ten Cate FJ, Simoons ML, Dooijes D. 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;28:2732-7. https://doi.org/10.1093/eurheartj/ehm429
  15. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008;117:2893-901. https://doi.org/10.1161/CIRCULATIONAHA.107.746164
  16. Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazon L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 2007;28:1953-61. https://doi.org/10.1093/eurheartj/ehm239
  17. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER. Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis 2013;7:260-73. https://doi.org/10.1177/1753944713504639
  18. Kołodzinska A, Heleniak A, Ratajska A. Retinoic acid-induced ventricular non-compacted cardiomyopathy in mice. Kardiol Pol 2013;71:447-52. https://doi.org/10.5603/KP.2013.0090
  19. Finsterer J, Stollberger C, Schubert B. Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy. Cardiology 2004;102:228-30. https://doi.org/10.1159/000081015
  20. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001;86:666-71. https://doi.org/10.1136/heart.86.6.666
  21. Cheng H, Zhao S, Jiang S, Yu J, Lu M, Ling J, Zhang Y, Yan C, Liu Q, Li S, Jin L, Jerecic R, He Z. Cardiac magnetic resonance imaging characteristics of isolated left ventricular noncompaction in a Chinese adult Han population. Int J Cardiovasc Imaging 2011;27:979-87. https://doi.org/10.1007/s10554-010-9741-x
  22. Gebhard C, Stahli BE, Greutmann M, Biaggi P, Jenni R, Tanner FC. Reduced left ventricular compacta thickness: a novel echocardiographic criterion for non-compaction cardiomyopathy. J Am Soc Echocardiogr 2012;25:1050-7. https://doi.org/10.1016/j.echo.2012.07.003
  23. Lampropoulos KM, Dounis VG, Aggeli C, Iliopoulos TA, Stefanadis C. Contrast echocardiography: contribution to diagnosis of left ventricular non-compaction cardiomyopathy. Hellenic J Cardiol 2011;52:265-72.
  24. Wang C, Deng YB, Zhu Y, Liu YN, Bi XJ. Evaluation of subtle myocardial noncompaction by contrast echocardiography in patients with hyper trophic cardiomyopathy and its relationship with regional ventricular systolic dysfunction. J Ultrasound Med 2012;31:1551-7. https://doi.org/10.7863/jum.2012.31.10.1551
  25. Gomathi SB, Makadia N, Ajit SM. An unusual case of isolated non-compacted right ventricular myocardium. Eur J Echocardiogr 2008;9:424-5. https://doi.org/10.1093/ejechocard/jen016
  26. Maheshwari M, Gokroo RK, Kaushik SK. Isolated non-compacted right ventricular myocardium. J Assoc Physicians India 2012;60:56-7.
  27. Cavusoglu Y, Ata N, Timuralp B, Gorenek B, Goktekin O, Kudaiberdieva G, Unalir A. Noncompaction of the ventricular myocardium: report of two cases with bicuspid aortic valve demonstrating poor prognosis and with prominent right ventricular involvement. Echocardiography 2003;20:379-83. https://doi.org/10.1046/j.1540-8175.2003.03045.x
  28. Bertini M, Ziacchi M, Biffi M, Biagini E, Rocchi G, Martignani C, Ferlito M, Pasquale F, Cervi E, Branzi A, Rapezzi C, Boriani G. Effects of cardiac resynchronisation therapy on dilated cardiomyopathy with isolated ventricular non-compaction. Heart 2011;97:295-300. https://doi.org/10.1136/hrt.2010.211607
  29. Paterick TE, Tajik AJ. Left ventricular noncompaction: a diagnostically challenging cardiomyopathy. Circ J 2012;76:1556-62. https://doi.org/10.1253/circj.CJ-12-0666
  30. Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 2006;88:71-7. https://doi.org/10.1016/j.ymgme.2005.11.009
  31. Srivastava D, Olson EN. A genetic blueprint for cardiac development. Nature 2000;407:221-6. https://doi.org/10.1038/35025190
  32. Sandhu R, Finkelhor RS, Gunawardena DR, Bahler RC. Prevalence and characteristics of left ventricular noncompaction in a community hospital cohort of patients with systolic dysfunction. Echocardiography 2008;25:8-12.
  33. Belanger AR, Miller MA, Donthireddi UR, Najovits AJ, Goldman ME. New classification scheme of left ventricular noncompaction and correlation with ventricular performance. Am J Cardiol 2008;102:92-6. https://doi.org/10.1016/j.amjcard.2008.02.107
  34. Statile CJ, Taylor MD, Mazur W, Cripe LH, King E, Pratt J, Benson DW, Hor KN. Left ventricular noncompaction in Duchenne muscular dystrophy. J Cardiovasc Magn Reson 2013;15:67. https://doi.org/10.1186/1532-429X-15-67
  35. Lilli A, Chioccioli M, Del Meglio J, Menichetti F, Magnacca M, Tessa C, Salvatori L, Casolo G; FESC, FACC. Coronary microfistulae associated with non compacted myocardium: a rare cause of myocardial ischemia unraveled by a multimodality imaging approach. Int J Cardiol 2012;159:e16-7. https://doi.org/10.1016/j.ijcard.2011.11.009
  36. Inyangetor D, Czarnecki C, Sands MJ, Avelar E. Left ventricular noncompaction associated with multiple coronary cameral fistulae. Tex Heart Inst J 2012;39:294-5.
  37. Calzolari M, Gaddi O, Ilari B, Iotti R, Tortorella G, Muia N, Guiducci U. [Association of non-compacted myocardium and patent ductus arteriosus in a young asymptomatic male patient: findings in screening for contact sport eligibility]. Ital Heart J Suppl 2002;3:659-64.
  38. Nimeri NA, Abou Nahia FF, Ibrahim AS, Khella AY. The first reported case of non-compacted cardiomyopathy in a preterm infant with Ebstein's anomaly. BMJ Case Rep 2012;2012. pii: bcr0220125861.
  39. Kiernan TJ, Fahy G. Multiple accessory pathways, dual AV nodal physiology, non-compacted myocardium and patent foramen ovale in a patient with Ebstein's anomaly: report of a case. Int J Cardiol 2007;114:412-3. https://doi.org/10.1016/j.ijcard.2005.11.090
  40. Bottio T, Farina D, Piccoli P, Muzzi L, Negri A, Bisleri G, Berlinghieri N, Muneretto C. Massive mitral and pulmonary valve incompetence in a patient with left ventricular, non-compacted myocardium. J Heart Valve Dis 2007;16:93-5.
  41. Trejo Gabriel Y Galan JM, Sanchez Mata N, Bravo Anguiano Y, Tellez Garcia JM. [Non-compacted cardiomyopathy, presenting as repeated stroke]. Rev Clin Esp 2010;210:365-6. https://doi.org/10.1016/j.rce.2009.12.011
  42. Dellegrottaglie S, Pedrotti P, Roghi A, Pedretti S, Chiariello M, Perrone-Filardi P. Regional and global ventricular systolic function in isolated ventricular non-compaction: pathophysiological insights from magnetic resonance imaging. Int J Cardiol 2012;158:394-9. https://doi.org/10.1016/j.ijcard.2011.01.063
  43. Enriquez RA, Baeza VR, Gabrielli NL, Cordova AS, Castro GP. [Non compaction cardiomyopathy: a series of 15 cases]. Rev Med Chil 2011;139:864-71. https://doi.org/10.4067/S0034-98872011000700006
  44. Aras D, Tufekcioglu O, Ergun K, Ozeke O, Yildiz A, Topaloglu S, Deveci B, Sahin O, Kisacik HL, Korkmaz S. Clinical features of isolated ventricular noncompaction in adults long-term clinical course, echocardiographic properties, and predictors of left ventricular failure. J Card Fail 2006;12:726-33. https://doi.org/10.1016/j.cardfail.2006.08.002
  45. Hutchins IM, Schaefer S. Progressive left ventricular noncompaction and systolic dysfunction. Exp Clin Cardiol 2012;17:81-3.
  46. Fazio G, Corrado G, Novo G, Zachara E, Rapezzi C, Sulafa AK, Sutera L, D'angelo L, Visconti C, Stollberger C, Sormani L, Finsterer J, Cavusoglu Y, Di Gesaro G, Grassedonio E, Ferrara F, Galia M, Midiri M, Pipitone S, Carerj S, Novo S. Ventricular dysfunction and number of non compacted segments in non compaction: non-independent predictors. Int J Cardiol 2010;141:250-3. https://doi.org/10.1016/j.ijcard.2008.11.199
  47. Cheng H, Zhao S, Jiang S, Lu M, Yan C, Ling J, Zhang Y, Liu Q, Ma N, Yin G, Wan J, Yang Y, Li L, Jerecic R, He Z. Comparison of cardiac magnetic resonance imaging features of isolated left ventricular noncompaction in adults versus dilated cardiomyopathy in adults. Clin Radiol 2011;66:853-60. https://doi.org/10.1016/j.crad.2011.04.014
  48. Leung SW, Elayi CS, Charnigo RJ Jr, Syed MA. Clinical significance of right ventricular dysfunction in left ventricular non-compaction cardiomyopathy. Int J Cardiovasc Imaging 2012;28:1123-31. https://doi.org/10.1007/s10554-011-9925-z
  49. Nemes A, Anwar AM, Caliskan K, Soliman OI, van Dalen BM, Geleijnse ML, ten Cate FJ. Non-compaction cardiomyopathy is associated with mitral annulus enlargement and functional impairment: a real-time three-dimensional echocardiographic study. J Heart Valve Dis 2008;17:31-5.
  50. Aquieri A, Rodriguez Granillo G, Vazquez Blanco M, Lerman J. [Sudden death due to commotio cordis associated to non compacted myocardium]. Medicina (B Aires) 2011;71:542-6.
  51. Borges-Cancel W, Calderon RE. Aborted sudden cardiac death as a presentation of isolated non-compaction cardiomyopathy. P R Health Sci J 2011;30:84-6.
  52. Correia E, Santos LF, Rodrigues B, Gama P, Ferreira P, Nunes L, Pipa J, Cabral C, Dionisio O, Santos O. Left ventricular noncompaction: diagnosis by three-dimensional echocardiography. Rev Port Cardiol 2009;28:1277-83.
  53. Garcia-Paredes T, Fernandez-Zamora MD, Mora-Ordonez J, Ferriz Martin JA, Munoz-Bono J, Vera-Almazan A, Quesada-Garcia G. [Non-compacted cardiomyopathy: an uncommon cause of ventricular tachycardia]. Med Intensiva 2007;31:261-4. https://doi.org/10.1016/S0210-5691(07)74820-9
  54. Bozic I, Fabijanic D, Carevic V, Jurilj R, Zekanovic D, Bonacin D. Isolated left ventricular non-compaction cardiomyopathy associated with ventricular preexcitation: a case report. Coll Antropol 2009;33:1415-9.
  55. Aryal MR, Badal M, Giri S, Pradhan R. Left ventricular non-compaction presenting with heart failure and intramural thrombus. BMJ Case Rep 2013;2013. pii: bcr2013009757.
  56. Paiva M, Pinho T, Sousa A, Correia AS, Sousa C, Rangel I, Oliveira S, Maciel MJ. Embolic complication of left ventricular non-compaction as an unusual cause of acute myocardial infarction. Rev Port Cardiol 2012;31:751-4.
  57. Correia E, Santos LF, Rodrigues B, Gama P, Cabral C, Santos O. Noncompaction of the myocardium in a patient with acute myocardial infarction. Arq Bras Cardiol 2010;94:e62-4, e125-7. https://doi.org/10.1590/S0066-782X2010000100011
  58. Stollberger C, Finsterer J, Sodeck GH, Grassberger M, Zimpfer D. Stroke from noncompaction overlooked by echocardiography. Int J Cardiol 2011;148:357-8. https://doi.org/10.1016/j.ijcard.2010.08.053
  59. Tsapakis EG, Eleftheriades M, Daskalakis G, Chrelias C, Hassiakos D. Prenatal diagnosis of fetal left ventricular non-compaction cardiomyopathy. Ultrasound Obstet Gynecol 2012;39:592-4. https://doi.org/10.1002/uog.9086
  60. Rocha IJ, Nogueira RM, Carrico AL. Non-compacted myocardium and foetal left isomerism as a hydrops' aetiology. Cardiol Young 2010;20:223-5. https://doi.org/10.1017/S1047951110000144
  61. Weisz SH, Limongelli G, Pacileo G, Calabro P, Russo MG, Calabro R, Vatta M. Left ventricular non compaction in children. Congenit Heart Dis 2010;5:384-97. https://doi.org/10.1111/j.1747-0803.2010.00446.x
  62. Lilje C, Razek V, Joyce JJ, Rau T, Finckh BF, Weiss F, Habermann CR, Rice JC, Weil J. Complications of non-compaction of the left ventricular myocardium in a paediatric population: a prospective study. Eur Heart J 2006;27:1855-60. https://doi.org/10.1093/eurheartj/ehl112
  63. Yabur-Espitia M, Espinola-Zavaleta N. [Ventricular non-compaction associated to a complex congenital heart disease]. Rev Med Inst Mex Seguro Soc 2011;49:65-70.
  64. Sabate Rotes A, Huertas-Quinones VM, Betrian P, Carretero J, Jimenez L, Girona J, Uriel S, Perich R, Collell R, Prada F, Albert DC. [Non-compacted cardiomyopathy: clinical characteristics, evolution and prognostic data in childhood. Results of a multicenter study]. An Pediatr (Barc) 2012;77:360-5. https://doi.org/10.1016/j.anpedi.2011.08.005
  65. Junga G, Kneifel S, Von Smekal A, Steinert H, Bauersfeld U. Myocardial ischaemia in children with isolated ventricular non-compaction. Eur Heart J 1999;20:910-6. https://doi.org/10.1053/euhj.1998.1398
  66. Alsaileek AA, Syed I, Seward JB, Julsrud P. Myocardial fibrosis of left ventricle: magnetic resonance imaging in noncompaction. J Magn Reson Imaging 2008;27:621-4. https://doi.org/10.1002/jmri.21068

피인용 문헌

  1. Left ventricular non - compaction: contemporary view of genetic background, clinical course, diagnostic and treatment vol.91, pp.12, 2014, https://doi.org/10.26442/00403660.2019.12.000142