Clinical and epidemiological aspects of cardiomyopathies: a critical review of current knowledge

Five years after the second report of the WHO/ISFC Task Force on the definition and classification of cardiomyopathies (CM), a critical review of the matter appears well-timed. The need for a correct definition of myocardial diseases is emphasized by considering them the result of a 'direct' injury due to different known and unknown causes and not a consequence of ischemic disease or of pressure and/or volume overload. This is in order to eliminate terms like ischemic CM, valvular CM, and hypertensive CM, which are a source of confusion. The concept of myocardial injury is also reviewed. This should not only include the structural/organic macroscopic injury, but also the subcellular, ultrastructural, and molecular damage (mostly of genetic origin) of the contracting element proteins, of citosol, sarcolemma and cell membrane ion channels. As the myocardium is a complex structure, made of common fibers and of specific conduction tissue, injury may be clinically identified either by ventricular function impairment or by bioelectric function defects, i.e. tachyarrhythmias and/or bradyarrhythmias, which sometimes are the unique manifestation of the disease (arrhythmogenic CM, in the strict sense). On the basis of the morpho-functional alterations, CMs may be classified as dilated CM (which could be better identified as hypokinetic CM, referring to the functional aspect, because the morphologic aspect is not always present), hypertrophic CM, restrictive CM, and arrhythmogenic CM (including not only arrhythmogenic right ventricular CM, but also other forms, like the so-called arrhythmias of the 'apparently' healthy heart, due to 'occult' myocardial injury). Moreover, these forms may present in association, like mixed CM (dilated-arrhythmogenic, dilated-hypertrophic, etc.). From an etiologic point of view, it is advisable to maintain the distinction between specific CM, due to a known cause, and primary or idiopathic CM, including, together with sporadic forms of an unknown origin, familial forms of a genetic origin, depending on alterations of contractile or regulating functional proteins, when myocardial injury is the sole manifestation (idiopathic) of clinical picture. The most modern etiopathogenetic, pathophysiological, and clinical features of each form of CM are briefly described in order to suggest a complete definition of the disease and to state a clinical-epidemiological setting that encompasses the current knowledge.