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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)

Abstract

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.

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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: r.franklin@rbht.nhs.uk

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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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References

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