DILATED CARDIOMYOPATHY: DEFINITION
Dilated cardiomyopathy (DCM) is a chronic heart muscle disease characterized by “the presence of dilatation and systolic impairment of the left or both ventricles unexplained by abnormal loading conditions or coronary artery disease sufficient to cause the observed myocardial dilation and dysfunction.”1 According to the American Heart Association (AHA) classification, “dilated forms of cardiomyopathy are characterized by ventricular chamber enlargement and systolic dysfunction with normal LV wall thickness.”2
In this chapter, DCM is intended as a primary disease of heart muscle. More than 60% of DCMs are proven to be familial diseases with identifiable genetic defects.3,4 Acquired disorders manifesting with the DCM phenotype, or DCM phenocopies (defined as environmentally induced phenotypes mimicking one usually produced by a specific genotype), are sporadic and are categorized as nongenetic DCM. This distinction is essential to separate genetic DCM from acquired, nongenetic, and potentially reversible phenotypes arising from protean causes. The therapeutic options for acquired DCM often differ from those for familial DCM. Ischemic heart disease may manifest as or evolve into a DCM-like phenotype; it is discussed further in Chap. 43.
In its descriptive definition, DCM represents the end phenotype of heart muscle damage induced by different causes; the disease mechanisms are increasingly being identified by the implementation of molecular and genetic assays for patients and families, high-resolution and functional imaging, and novel biomarkers. In this end stage, most DCMs look phenotypically alike (Fig. 58–1). Intermediate phenotypes are manifest by borderline, persistent left ventricular (LV) dilation and/or dysfunction and may present with arrhythmias and/or conduction disease, now recognized as “early DCM.”5 In genotyped families, the preclinical phase of the disease can be diagnosed in phenotypically healthy but genetically affected relatives of probands with DCM. Therefore, DCM can be grouped mechanistically as genetic and nongenetic.
Phenotypically similar dilated cardiomyopathy (DCM) caused by defects in different genes: precise description by MOGE(S) nosology system. The figure shows three different examples of DCM; although the clinical diagnosis is the same, the diseases are different. In the MOGE(S) notation, M describes the morphofunctional phenotype (hypertrophic cardiomyopathy, DCM, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy) as defined in current guidelines,1 eventually adding key markers such as atrioventricular block; O describes the organs affected in the given patient (eg, Heart, Skeletal muscle, Auditory, ocular systems); G defines whether a cardiomyopathy is genetic or not and includes information on the pattern of inheritance (autosomal dominant, autosomal recessive, X-linked, matrilineal)3; E is the precision diagnostic descriptor and specifies the cause and, in case of genetic diseases, the disease gene(s) and the mutation(s); and S includes New York Heart Association functional class and American Heart Association stage. The practical use is supported by a free app at http://moges.biomeris.com/moges.html (see Chap. 57).
THE BURDEN OF DILATED ...