Cardiomyopathies:Morphofunctional phenotype 50 YEARS OF HUMAN UNDERSTANDING

1956• Myocardial diseases

classified as myocarditis (inflammatory heart muscle disease), and myocardiosis (other heart muscle diseases)

• Blankerhorn MA, Gall EA. Myocarditis and myocardiosis: a clinicopathologic appraisal. Circulation 1956;13:217–23.

1957• The term cardiomyopathy

proposed for uncommon, noncoronary heart muscle diseases

• Bridgen W. Uncommon myocardial diseases:the non-coronary cardiomyopathies. Lancet 1957;273:1179–84.

1972Cardiomyopathy described as myocardial diseases of unknown origin, and first classification proposed as dilated,hypertrophic, and restrictive (or obliterative) cardiomyopathy

• Goodwin JF, Oakley CM. The cardiomyopathies.Br Heart J 1972;34:545–52.

1980 WHO Defines cardiomyopathies as myocardial diseases of unknown etiology. WHOISFCadds specific heart musclediseases (cause of myocardialaffliction known) to the classification

• Report of the WHO/ISFC Task Force on the definition and classification of cardiomyopathies.Br Heart J 1980;44:672–3.

1996WHO-ISFC updates its classification of cardiomyopathies (diseases of myocardium associated withmyocardial dysfunction). The update includes arrhythmogenic right ventricular cardiomyopathy and unclassified cardiomyopathy, but excludes specific heart muscle disease.

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 Classificationof cardiomyopathies. Circulation 1996;93:841–2.

1998• 1998 ISFC becomes WHF

AHA 2006Defines cardiomyopathies as diseases of myocardium associated with mechanical and/or electrical dysfunction, which usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilation,due to a variety of causes that frequently are genetic, classified as primary or secondary. Presents first visionary attempt to classify primary cardiomyopathy by genetic origin (genetic, acquired, or mixed)

ESC 2008Defines cardiomyopathies as myocardial disorder in which the heart muscle was structurally and functionally abnormal. Classified dilated, hypertrophic, restrictive,arrhythmogenic right ventricular, or unclassified cardiomyopathy subtypes as familial/genetic and nonfamilial/nongenetic. Maintained the importance of phenotype preceding genetic classification for clinical practice.

2013 WHF-MOGE(S)1. M: MORPHO-FUNCTIONAL

PHENOTYPE2. O: INVOLVED ORGANS3. G: GENETIC 4. E: ETIOLOGY5. S: FUNCTIONAL STATUS

1.Arbustini E, Narula N, Dec WG, et al. TheMOGE(S) Classification for a phenotype–genotypenomenclature of cardiomyopathy. Endorsed by theWorld Heart Federation. J Am Coll Cardiol 2013;62:2046–72.2. Arbustini E, Narula N, Dec WG, et al. TheMOGE(S) classification for a phenotype–genotypenomenclature of cardiomyopathy. endorsed by theWorld Heart Federation. G Heart 2013;8:355–82.

Inheritance• Majority :Autosomal dominant• Minority:Recessive,X-linked, or matrilinear

Classification trend over last 50 yrs• From pathological(1956) to genetic (2013) to

morphofunctional phenotype-based

One example

Pedigree chart-1

50 years’ effort to unravel this beauty