Left ventricular noncompaction associated with hypertrophic cardiomyopathy: Echocardiographic diagnosis and genetic analysis of a new pedigree in China

International Journal of Cardiology

Volumn 174, Issue 2, 2014, Pages 249-259

  Yuan, Li ^a   Xie, Mingxing ^a   Cheng, Tsung O ^a,b   Wang, Xinfang ^a   Zhu, Feng ^a   Kong, Xiangquan ^a   Ghoorah, Devina ^c  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b GEORGE WASHINGTON UNIVERSITY MEDICAL CENTER   (United States)

^c Flacq Hospital   (Mauritius)

Author keywords

Contrast echocardiography; Familial screening; Genetics; Hypertrophic cardiomyopathy; Left ventricular noncompaction

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CHILD; CHINA; CLINICAL ARTICLE; CONTRAST ECHOCARDIOGRAPHY; DIASTOLIC DYSFUNCTION; DISEASE ASSOCIATION; FEMALE; GENETIC ANALYSIS; HEART ATRIUM ENLARGEMENT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE SCANNER; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; TRANSTHORACIC ECHOCARDIOGRAPHY; VENTRICULAR NONCOMPACTION; COMPLICATION; ECHOGRAPHY; GENETIC SCREENING; GENETICS; PEDIGREE; PRESCHOOL CHILD;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; GENETIC TESTING; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MIDDLE AGED; PEDIGREE;

EID: 84901190468     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2014.03.006     Document Type: Article

References (54)

1. B.J. Maron, J.A. Towbin, and G. Thiene 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 113 2006 1807 1816
2. H.F. Baars, J.J. van der Smagt, and P.A.F.M. Doevendans Clinical cardiogenetics 2010 Springer 102 104
3. Y.M. Hoedemaekers, K. Caliskan, and D. Majoor-Krakauer 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 28 2007 2732 2737
4. L. Monserrat, M. Hermida-Prieto, and X. Fernandez et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects Eur Heart J 28 2007 1953 1961
5. S.L. Mulvagh, H. Rakowski, and M.A. Vannan et al. American Society of Echocardiography Consensus Statement on the clinical applications of ultrasonic contrast agents in echocardiography J Am Soc Echocardiogr 21 2008 1179 1201
6. P. Gianfagna, L.P. Badano, G. Faganello, E. Tosoratti, and P.M. Fioretti Additive value of contrast echocardiography for the diagnosis of noncompaction of the left ventricular myocardium Eur J Echocardiogr 7 2006 67 70
7. R. Jenni, E. Oechslin, J. Schneider, J.C. Attenhofer, and P.A. Kaufmann Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy Heart 86 2001 666 671
8. R.H. Pignatelli, C.J. McMahon, and W.J. Dreyer et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy Circulation 108 2003 2672 2678
9. M.A. Losi, S. Nistri, and M. Galderisi et al. Echocardiography in patients with hypertrophic cardiomyopathy usefulness of old and new techniques in the diagnosis and pathophysiological assessment Cardiovasc Ultrasound 8 2010 7
10. T. Konno, M. Shimizu, and H. Ino et al. Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis Eur Heart J 25 2004 246 251
11. S.R. Ommen, R.A. Nishimura, and C.P. Appleton et al. Clinical utility of Doppler echocardiography and tissue Doppler imaging in the estimation of left ventricular filling pressures: a comparative simultaneous Doppler- catheterization study Circulation 102 2000 1788 1794
12. J.W. Ha, J.A. Ahn, and J.Y. Moon et al. Triphasic mitral inflow velocity with mid-diastolic flow: the presence of mid-diastolic mitral annular velocity indicates advanced diastolic dysfunction Eur J Echocardiogr 7 2006 16 21
13. D. Teare Asymmetrical hypertrophy of the heart in young adults Br Heart J 20 1958 1 8
14. B.J. Maron, J.M. Gardin, J.M. Flack, S.S. Gidding, T.T. Kurosaki, and D.E. Bild Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (young) adults Circulation 92 1995 785 789
15. R. Engberding, and F. Bender Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids Am J Cardiol 53 1984 1733 1734
16. T.K. Chin, J.K. Perloff, R.G. Williams, K. Jue, and R. Mohrmann Isolated noncompaction of left ventricular myocardium. A study of eight cases Circulation 82 1990 507 513
17. M.K. Friedberg, P.C. Ursell, and N.H. Silverman Isomerism of the left atrial appendage associated with ventricular noncompaction Am J Cardiol 96 2005 985 990
18. C. Stöllberger, J. Finsterer, and G. Blazek Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders Am J Cardiol 90 2002 899 902
19. J. Finsterer, C. Stollberger, and G. Blazek Neuromuscular implications in left ventricular hypertrabeculation/noncompaction Int J Cardiol 110 2006 288 300
20. R. Engberding, T.M. Yelbuz, and G. Breithardt Isolated noncompaction of the left ventricular myocardium - a review of the literature two decades after the initial case description Clin Res Cardiol 96 2007 481 488
21. S.B. Bleyl, B.R. Mumford, and M.C. Brown-Harrison et al. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals Am J Med Genet 72 1997 257 265
22. F. Ichida, S. Tsubata, and K.R. Bowles et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome Circulation 103 2001 1256 1263
23. D. Aras, O. Tufekcioglu, and K. Ergun 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 12 2006 726 733
24. E.N. Oechslin, C.H. Attenhofer Jost, J.R. Rojas, P.A. Kaufmann, and R. Jenni Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis J Am Coll Cardiol 36 2000 493 500
25. Y. Xing, F. Ichida, and T. Matsuoka et al. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity Mol Genet Metab 88 2006 71 77
26. ICIN Working Group on Hereditary Heart Diseases Genetic diagnostics and genetic counselling in hypertrophic cardiomyopathy (hcM) Neth Heart J 18 2010 144 159
27. S.G. Campbell, and A.D. McCulloch Multi-scale computational models of familial hypertrophic cardiomyopathy: genotype to phenotype J R Soc Interface 8 2011 1550 1561
28. E. Biagini, L. Ragni, and M. Ferlito et al. Different types of cardiomyopathy associated with isolated ventricular noncompaction Am J Cardiol 98 2006 821 824
29. L. Alday, E. Moreyra, E. Bruno, N. Rossi, and H. Maisuls Left ventricular noncompaction associated with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome Health 2 3 2010 200 203
30. T. Ripoll Vera, L. Monserrat Iglesias, and M. Hermida Prieto et al. The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans Int J Cardiol 145 2010 405 407
31. S. Xia, H. Wang, X. Zhang, J. Zhu, and X. Tang Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction Intern Med 47 2008 577 583
32. Y.M. Hoedemaekers, K. Caliskan, and D.F. Majoor-Krakauer Noncompaction cardiomyopathy H.F. Baars, Clinical cardiogenetics 2011 ©Springer-Verlag London Limited 10.1007/978-1-84996-471-5-6
33. R.T. Murphy, R. Thaman, and J.G. Blanes et al. Natural history and familial characteristics of isolated left ventricular non-compaction Eur Heart J 26 2005 187 192
34. V.M.C. Salemi, C.E. Rochitte, P. Lemos, L.A. Benvenuti, C.G. Pita, and C. Mady Long-term survival of a patient with isolated noncompaction of the ventricular myocardium J Am Soc Echocardiogr 19 2006 354
35. E. Perez-David, M.A. Garcia-Fernandez, I. Gomez-Anta, J.J. de Diego, J.A. Garcia-Robles, and J. Lafuente Isolated noncompaction of the ventricular myocardium: infrequent because of missed diagnosis? J Am Soc Echocardiogr 20 2007 439.e1 439.e4
36. H. Masugata, K. Yukiiri, Y. Takagi, K. Ohmori, K. Mizushige, and M. Kohno Potential pitfalls of visualization of myocardial perfusion by myocardial contrast echocardiography with harmonic gray scale B-mode and power Doppler imaging Int J Cardiovasc Imaging 20 2004 117 125
37. H. Masugata, B. Cotter, K. Ohmori, O.L. Kwan, K. Mizushige, and A.N. DeMaria Feasibility of right ventricular myocardial opacification by contrast echocardiography and comparison with left ventricular intensity Am J Cardiol 84 1999 1137 1140 [A11]
38. E. Mariotti, A. Pierantozzi, and P. Bocconcelli A rare case of isolated left ventricular non-compaction. Importance of image technology and disease awareness for a correct diagnosis J Cardiovasc Med 7 2006 563 565
39. J. Finsterer, and C. Stollberger Cardiac MRI versus echocardiography in assessing noncompaction in children without neuromuscular disease Pediatr Radiol 36 2006 720 721
40. T.W. Galema, M.L. Geleijnse, W.B. Vletter, L.L. De, M. Michels, and F.J. Ten Cate Clinical usefulness of SonoVue contrast echocardiography: the Thoraxcentre experience Neth Heart J 15 2007 55 60
41. B.K. Koo, D. Choi, J.W. Ha, S.M. Kang, N. Chung, and S.Y. Cho Isolated noncompaction of the ventricular myocardium: contrast echocardiographic findings and review of the literature Echocardiography 19 2002 153 156
42. K.M. Lampropoulos, V.G. Dounis, C. Aggeli, T.A. Iliopoulos, and C. Stefanadis Contrast echocardiography: contribution to diagnosis of left ventricular non-compaction cardiomyopathy Hellenic J Cardiol 52 2011 265 272
43. P. Soman, J. Swinburn, M. Callister, N.G. Stephens, and R. Senior Apical hypertrophic cardiomyopathy: bedside diagnosis by intravenous contrast echocardiography J Am Soc Echocardiogr 14 2001 311 313
44. L.V. Rosa, V.M. Salemi, L.M. Alexandre, and C. Mady Noncompaction cardiomyopathy - a current view Arq Bras Cardiol 97 2011 e13 e19
45. J.E. Sanderson, D.G. Gibson, D.J. Brown, and J.F. Goodwin Left ventricular filling in hypertrophic cardiomyopathy. An angiographic study Br Heart J 39 1977 661 670
46. S.F. Nagueh, C.P. Appleton, and T.C. Gillebert et al. Recommendations for the evaluation of left ventricular diastolic function by echocardiography J Am Soc Echocardiogr 22 2009 107 133
47. J.W. Ha, J.K. Oh, M.M. Redfield, K. Ujino, J.B. Seward, and A.J. Tajik Triphasic mitral inflow velocity with middiastolic filling: clinical implications and associated echocardiographic findings J Am Soc Echocardiogr 17 2004 428 431
48. P.C. Frommelt, A.N. Pelech, and M.A. Frommelt Diastolic dysfunction in an unusual case of cardiomyopathy in a child: insights from Doppler and Doppler tissue imaging analysis J Am Soc Echocardiogr 16 2003 176 181
49. M.P. Chrissoheris, R. Ali, Y. Vivas, M. Marieb, and Z. Protopapas Isolated noncompaction of the ventricular myocardium: contemporary diagnosis and management Clin Cardiol 30 2007 156 160
50. I. Olivotto, F. Cecchi, S.A. Casey, A. Dolara, J.H. Traverse, and B.J. Maron Impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy Circulation 104 2001 2517 2524
51. B.J. Maron Cardiology patient pages. Hypertrophic cardiomyopathy Circulation 106 2002 2419 2421
52. C. Stollberger, G. Blazek, C. Wegner, and J. Finsterer Heart failure, atrial fibrillation and neuromuscular disorders influence mortality in left ventricular hypertrabeculation/noncompaction Cardiology 119 2011 176 182
53. J. Finsterer, and M. Dumser Noncompaction in a septic heart, missed on echocardiography Int J Cardiol 171 2014 e70 e71
54. T.E. Paterick, and A.J. Tajik Left ventricular noncompaction: a diagnostically challenging cardiomyopathy Circ J 76 2012 1556 1562