Non-compaction cardiomyopathy. Part II: limitations of imaging techniques and genetic screening, clinical observations

Improvement of high-tech methods of cardiac imaging and new generation sequencing with their introduction into widespread practice has significantly expanded the potential of diagnosis of rare cardiomyopathies. Modern imaging methods make it easy to reveal the myocardial non-compaction. However, in clinical practice, significant difficulties remain in the differentiation of normal/borderline patterns of increased ventricular trabecularity, morphology of myocardial noncompaction and non-compaction cardiomyopathy (NCM). After three decades of research, verifying the NCM is still a major clinical challenge. A key aspect of this problem is the lack of generally accepted recommendations on the diagnostic criteria for NCM and low number of long-term multicenter studies with segregation analysis on familial NCMs. A promising solution is the development of a multistep algorithm for the diagnosis of NCM with the integration of familial, morphological, genetic and clinical data.

The article presents a brief literary review on NCM diagnosis with a discussion of own research and comparative characteristics of clinical and genetic data. To confirm the clinical and molecular heterogeneity of NCM, there are brief clinical observations of mixed phenotypes with a detailed presentation of overlap NCMs in the MOGE(S) classification.

1. Oechslin E, Jenni R. Left ventricular noncompaction. J Am Coll Cardiol. 2018;71:723-6. doi:10.1016/j.jacc.2017.12.031.

2. Caselli S, Attenhofer Jost CH, Jenni R, et al. Left ventricular noncompaction diagnosis and management relevant to pre-participation screening of athletes. Am J Cardiol. 2015;116:801-8. doi:10.1016/j.amjcard.2015.05.055.

3. 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;130:475-83. doi:10.1161/CIRCULATIONAHA.114.008554.

4. Minamisawa M, Koyama J, Kozuka A, et al. Regression of left ventricular hyper-rabeculation is associated with improvement in systolic function and favorable prognosis in adult patients with non-ischemic cardiomyopathy. J Cardiol. 2016;68:431-8. doi:10.1016/j.jjcc.2015.11.008.

5. Negri F, De Luca A, Fabris E, et al. Left ventricular noncompaction, morphological, and clinical features for an integrated diagnosis. Heart Fail Rev. 2019;24(3):315-23. doi:10.1007/s10741-018-9763-3.2019.

6. Arbustini E, Narula N, Dec GW, et al. The MOGE(S) classification for a phenotypegenotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation. J Am Coll Cardiol. 2013;62:2046-72. doi:10.1016/j.jacc.2013.08.1644.

7. Hoffman-Andrews L. The known unknown: the challenges of genetic variants of uncertain significance in clinical practice. J Law Biosci. 2018;4(3):648-657. doi:10.1093/jlb/lsx038.

8. Sedaghat-Hamedani F, Haas J, Zhu F, et al. Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. Eur Heart J. 2017;38(46):3449-3460. doi:10.1093/eurheartj/ehx545.

9. Verdonschot JAJ, Hazebroek MR, Wang P, et al. Clinical phenotype and genotype associations with improvement in left ventricular function in dilated cardiomyopathy. Circ Heart Fail. 2018;11:e005220. doi:10.1161/CIRCHEARTFAILURE.118.005220.

10. 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;86:666-71. doi:10.1136/heart.86.6.666.

11. 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. doi:10.1016/S0002-9149(02)02723-6.

12. Soliman OI, McGhie J, ten Cate FJ. Multimodality Imaging, Diagnostic Challenges and Proposed Diagnostic Algorithm for Noncompaction Cardiomyopathy. In: Caliskan K, Soliman OI, ten Cate FJ. Noncompaction Cardiomyopathy. Springer Nature Switzerland AG; 2019. p. 17-40. ISBN: 978-3-030-17719-5. doi:10.1007/978-3-030-17720-1.

13. Grothoff M, Pachowsky M, Hoffmann J, et al. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur Radiol. 2012;22:2699-709. doi:10.1007/s00330-012-2554-7.

14. Captur G, Muthurangu V, Cook C, et al. Quantification of left ventricular trabeculae using fractal analysis. J Cardiovasc Magn Reson. 2013;15:36-46. doi:10.1186/1532-429X-15-36.

15. Stacey RB, Andersen MM, St Clair M, et al. Comparison of systolic and diastolic criteria for isolated LV noncompaction in CMR. JACC Cardiovasc Imaging. 2013;6:931-40. doi:10.1016/j.jcmg.2013.01.014.

16. Kawel N, Nacif M, Arai AE, et al. Trabeculated (noncompacted) and compact myocardium in adults: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Imaging. 2012;5:357-66. doi:10.1161/CIRCIMAGING.111.971713.

17. Weir-McCall JR, Yeap PM, Papagiorcopulo C, et al. Left ventricular noncompaction. J Am Coll Cardiol. 2016;68:2157-65. doi:10.1016/j.jacc.2016.08.054.

18. Cai J, Bryant JA, le TT, et al. Fractal analysis of left ventricular trabeculations is associated with impaired myocardial deformation in healthy Chinese. J Cardiovasc Magn Reson. 2017;19(102):102. doi:10.1186/s12968-017-0413-z.

19. Loukas M, Louis RG Jr, Black B, et al. False tendons: an endoscopic cadaveric approach. Clin Anat. 2007;20:163-9. doi:10.1002/ca.20347.

20. Kaya E, Otten M, Caliskan K. Long-term Prognosis and Management of Noncompaction Cardiomyopathy. In: Caliskan K, Soliman OI, ten Cate FJ. Noncompaction Cardiomyopathy. Springer Nature Switzerland AG; 2019. p. 149-163. ISBN 978-3-030-17719-5. doi:10.1007/978-3-030-17720-1.

21. Vaikhanskaya TG, Sivitskaya LN, Kurushko TV, et al. Non-compaction cardiomyopathy. Part I: clinical and genetic heterogeneity and predictors of unfavorable prognosis. Russian Journal of Cardiology. 2020;25(11):3872. (In Russ.) doi:10.15829/1560-4071-2020-3872.

22. Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059.

23. van Waning JI, Caliskan K, Hoedemaekers YM, et al. Genetics, clinical features, and longterm outcome of noncompaction cardiomyopathy. J Am Coll Cardiol. 2018;71:711-22. doi:10.1016/j.jacc.2017.12.019.

24. Andreini D, Pontone G, Bogaert J, et al. Long-term prognostic value of cardiac magnetic resonance in left ventricle noncompaction: a prospective multicenter study. J Am Coll Cardiol. 2016;68:2166-81. doi:10.1016/j.jacc.2016.08.053.

25. Aung N, Doimo S, Ricci F, et al. Prognostic Significance of Left Ventricular Noncompaction. Systematic Review and Meta-Analysis of Observational Studies. Circ Cardiovasc Imaging. 2020;13:e009712. doi:10.1161/circimaging.119.009712.

26. Ross SB, Jones K, Barratt A, et al. A systematic review and meta-analysis of the prevalence of left ventricular non-compaction in adults. European Heart Journal. 2020;41(14):1428-36. doi:10.1093/eurheartj/ehz317.

27. Ichida F. Left ventricular noncompaction — Risk stratification and genetic consideration. Journal of Cardiology. 2020;75(1):1-9. doi:10.1016/j.jjcc.2019.09.011.

28. Hirono K, Hata Y, Miyao N, et al. Left ventricular noncompaction and congenital heart disease increases the risk of congestive heart failure. J Clin Med. 2020;9(3):785-99. doi:10.3390/jcm9030785.