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Nomenclature and systems of classification for cardiomyopathy in children*

  • Laura Konta (a1), Rodney C. G. Franklin (a2) and Juan P. Kaski (a1) (a3)


There has been a progressive evolution in systems of classification for cardiomyopathy, driven by advances in imaging modalities, disease recognition, and genetics, following initial clinical descriptions in the 1960s. A pathophysiological classification emerged and was endorsed by World Health Organisation Task Forces in 1980 and 1995: dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathies; subdivided into idiopathic and disease-specific cardiomyopathies. Genetic advances have increasingly linked “idiopathic” phenotypes to specific mutations, although most linkages exhibit highly variable or little genotype–phenotype correlation, confounded by age-dependent changes and varying penetrance. The following two dominant classification systems are currently in use, with advocates in both continents. First, American Heart Association (2006): “A heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilatation due to a variety of causes that frequently are genetic”. These are subdivided to those predominantly involving the heart – primary – due to genetic mutation, including ion channelopathies, acquired disease, or mixed; and those with systemic involvement in other organ systems – secondary. Second, European Society of Cardiology (2008): “A myocardial disorder in which heart muscle is structurally and functionally abnormal… sufficient to cause the observed myocardial abnormality”, with subdivision to familial and non-familial, excluding ion channelopathies, and split to specific disease subtypes and idiopathic. Further differences exist in the definitions for hypertrophic cardiomyopathy; however, whichever high-level classification is used, the clinical reality remains phenotype driven. Clinical evaluation and diagnostic imaging dominate initial patient contact, revealing diagnostic red flags that determine further specific tests. Genetic testing is undertaken early. A recent attempt to harmonise these competing systems named the MOGE(S) system, based on descriptive logical nosology, currently remains unproven as a fully practical solution.


Corresponding author

Correspondence to: Dr R. C. G. Franklin, Department of Paediatric Cardiology, Royal Brompton Hospital, London SW3 6NP, United Kingdom. Tel: +44 1895 828659; Fax +44 1895 826589; E-mail:


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Presented at Johns Hopkins All Children’s Heart Institute, International Pediatric Heart Failure Summit, Saint Petersburg, Florida, United States of America, 4–5 February, 2015.



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1. Brigden, W. Uncommon myocardial diseases. The noncoronary cardiomyopathies. Lancet 1957; ii: 11791184.
2. Oakley, CM, Olsen, EGJ, Goodwin, JF et al. Report of the WHO/ISFC Task Force on the definition and classification of cardiomyopathies. Br Heart J 1980; 44: 672673.
3. Richardson, P, McKenna, W, Bristow, M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 1996;93:841–842.
4. Elliott, P, Andersson, B, Arbustini, E, et al. Classification of the cardiomyopathies: a position statement from ESC. Eur Heart J 2008; 29: 270276.
5. Lopes, LR, Elliott, PM. New approaches to the clinical diagnosis of inherited heart muscle disease. Heart 2013; 99: 14511461.
6. Maron, BJ, Gardin, JM, Flack, JM, Gidding, SS, Kurosaki, TT, Bild, DE. 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 1995; 92: 785789.
7. Wilkinson, JD, Landy, DC, Colan, SD, et al. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin 2010; 6: 401413.
8. Savage, DD, Seides, SF, Clark, CE, et al. Electrocardiographic findings in patients with obstructive and nonobstructive hypertrophic cardiomyopathy. Circulation 1978; 58: 402408.
9. Maron, BJ, Wolfson, JK, Ciró, E, Spirito, P. Relation of electrocardiographic abnormalities and patterns of left ventricular hypertrophy identified by 2-dimensional echocardiography in patients with hypertrophic cardiomyopathy. Am J Cardiol 1983; 51: 189194.
10. Gregor, P, Widimský, P, Cervenka, V, Vísek, V, Hrobonová, V. Electrocardiographic changes can precede the development of myocardial hypertrophy in the setting of hypertrophic cardiomyopathy. Int J Cardiol 1989; 23: 335341.
11. Moak, JP, Kaski, JP. Hypertrophic cardiomyopathy in children. Heart 2012; 98: 10441054.
12. Price, DI, Stanford, LC, Braden, DS, Ebeid, MR, Smith, JC. Hypocalcemic rickets: an unusual cause of dilated cardiomyopathy. Pediatr Cardiol 2003; 24: 510512.
13. Abu-Sulaiman, RM, Subaih, B. Congenital heart disease in infants of diabetic mothers: echocardiographic study. Pediatr Cardiol 2004; 25: 137140.
14. Alpert, MA. Obesity cardiomyopathy: pathophysiology and evolution of the clinical syndrome. Am J Med Sci 2001; 321: 225236.
15. Maron, BJ, Pelliccia, A. The heart of trained athletes: cardiac remodeling and the risks of sports, including sudden death. Circulation 2006; 114: 16331644.
16. Wilkinson, JD, Sleeper, LA, Alvarez, JA, Bublik, N, Lipshultz, SE. The Pediatric Cardiomyopathy Registry: 1995-2007. Prog Pediatr Cardiol 2008; 25: 3136.
17. McKenna, CJ, Codd, MB, McCann, HA, Sugrue, DD. Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution. Heart 1997; 77: 549552.
18. Burkett, EL, Hershberger, RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005; 45: 969981.
19. Hershberger, RE, Siegfried, JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57: 16411649.
20. McNally, EM, Golbus, JR, Puckelwartz, MJ. Genetic mutations and mechanisms in dilated cardiomyopathy. J Clin Invest 2013; 123: 1926.
21. Kindermann, I, Barth, C, Mahfoud, F, et al. Update on myocarditis. J Am Coll Cardiol 2012; 59: 779792.
22. Drucker, NA, Colan, SD, Lewis, AB, et al. Gamma-globulin treatment of acute myocarditis in the pediatric population. Circulation 1994; 89: 252257.
23. Takemura, G, Fujiwara, H. Doxorubicin-induced cardiomyopathy. From the cardiotoxic mechanisms to management. Prog Cardiovasc Dis 2007; 49: 330352.
24. Yeh, ETH, Bickford, CL. Cardiovascular complications of cancer therapy: incidence, pathogenesis, diagnosis, and management. J Am Coll Cardiol 2009; 53: 22312247.
25. Abdullah, M, Bigras, JL, McCrindle, BW. Dilated cardiomyopathy as a first sign of nutritional vitamin D deficiency rickets in infancy. Can J Cardiol 1999: 699701.
26. Price, DI, Stanford, LC, Braden, DS, Ebeid, MR, Smith, JC. Hypocalcemic rickets: an unusual cause of dilated cardiomyopathy. Pediatr Cardiol 2003; 24: 510512.
27. Amirlak, I, Al Dhaheri, W, Narchi, H. Dilated cardiomyopathy secondary to nutritional rickets. Ann Trop Paediatr 2008: 227230.
28. Frustaci, A, Sabbioni, E, Fortaner, S, et al. Selenium-and zinc-deficient cardiomyopathy in human intestinal malabsorption: preliminary results of selenium/zinc infusion. Eur J Heart Fail 2012; 14: 202210.
29. Giles, TD, Iteld, BJ, Rives, KL. The cardiomyopathy of hypoparathyroidism. Another reversible form of heart muscle disease. Chest 1981; 79: 225229.
30. Tsironi, M, Korovesis, K, Farmakis, D, Deftereos, S, Aessopos, A. Hypoparathyroidism and heart failure in thalassemic patients: a case report. Pediatr Endocrinol Rev 2004; 2 (Suppl 2): 310312.
31. Zangwill, S, Hamilton, R. Restrictive cardiomyopathy. Pacing Clin Electrophysiol 2009; 32 (Suppl 2): S41S43.
32. Pruszczyk, P, Kostera-Pruszczyk, A, Shatunov, A, et al. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol 2007; 117: 244253.
33. Kaski, JP, Syrris, P, Burch, M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008; 94: 14781484.
34. Parvatiyar, MS, Pinto, JR, Dweck, D, Potter, JD. Cardiac troponin mutations and restrictive cardiomyopathy. J Biomed Biotechnol 2010: doi:10.1155/2010/350706.
35. Marcus, FI, McKenna, WJ, Sherrill, D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force criteria. Circulation 2010; 121: 15331541.
36. Sen-Chowdhry, S, Syrris, P, Ward, D, Asimaki, A, Sevdalis, E, McKenna, WJ. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 2007; 115: 17101720.
37. Turrini, P, Basso, C, Daliento, L, Nava, A, Thiene, G. Is arrhythmogenic right ventricular cardiomyopathy a paediatric problem too? Images Paediatr Cardiol 2001; 3: 1837.
38. Bauce, B, Rampazzo, A, Basso, C, et al. Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in paediatric patients carrying desmosomal gene mutations. Heart Rhythm 2011; 8: 16861695.
39. Brenner, ZR, Powers, J. Takotsubo cardiomyopathy. Heart Lung 2008; 37: 17.
40. Szardien, S, Möllmann, H, Willmer, M, Akashi, YJ, Hamm, CW, Nef, HM. Mechanisms of stress (Takotsubo) cardiomyopathy. Heart Fail Clin 2013; 9: 197205.
41. Maron, BJ, Towbin, JA, Thiene, G, et al. Contemporary definitions and classification of the cardiomyopathies. Circulation 2006; 113: 18071816.
42. Sidhu, J, Roberts, R. Genetic basis and pathogenesis of Familial WPW Syndrome. Indian Pacing Electrophysiol J 2003; 3: 197201.
43. Kyndt, F, Probst, V, Potet, F, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001; 104: 30813086.
44. Probst, V, Allouis, M, Sacher, F, et al. Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. J Cardiovasc Electrophysiol 2006; 17: 270275.
45. Schwartz, PJ, Spazzolini, C, Crotti, L, et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006; 113: 783790.
46. Arbustini, E, Narula, N, Tavazzi, L, et al. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014; 64: 304318.
47. Elliott, PM, Anastasakis, A, Borger, MA, et al. ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart J 2014; 35: 27332779.
48. Maon, BJ, Seidman, CE, Ackerman, MJ, et al. How should hypertrophic cardiomyopathy be classified? Circ Cardiovasc Genet 2009; 2: 8186.
49. Elliott, PM, Mckenna, WJ. How should hypertrophic cardiomyopathy be classified? Molecular diagnosis for hypertrophic cardiomyopathy: not ready for prime time. Circ Cardiovasc Genet 2009; 2: 8789.
50. Rapezzi, C, Arbustini, E, Caforio, ALP, et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34: 14481458.
51. Christiaans, I, Birnie, E, Bonsel, GJ, et al. Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy. Eur Heart J 2011; 32: 11611170.
52. Jacoby, D, McKenna, WJ. Genetics of inherited cardiomyopathy. Eur Heart J 2012; 33: 296304.
53. Van Rijsingen, IA, Arbustini, E, Elliott, PM, et al. Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers: a European cohort study. J Am Coll Cardiol 2012; 59: 493500.
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: 26722678.



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