[Dilated cardiomyopathy as a genetic disease: molecular and clinical aspects].
Dilated cardiomyopathy is a disease of heterogenous etiology. In up to 50% of cases, familial aggregation is observed. During the past decade, several DCM-causing mutations could be identified, several of these in sarcomeric proteins. A specific component of the sarcomere, the z-disc, appears to be a "hot spot" in the molecular pathogenesis of DCM. Yet, mutations in proteins of the sarcolemma, the cytoskeleton, as well as the nuclear membrane can also lead to dilated cardiomyopathy. Morever, in addition to the monogenetic causes of cardiomyopathy, the genetic background of the individual patient may critically determine disease progression and the response to therapy. In the initial clinical evaluation of a patient newly diagnosed with DCM, it is important to obtain a careful family history in order to detect and treat additional family members which may be affected. Moreover, extracardiac manifestations of genetic DCM, such as skeletal muscle involvement, should be excluded. We anticipate that the elucidation of additional DCM disease genes as well as the underlying molecular pathways should lead to the development of novel specific therapies in the future.
Frey
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Abteilung für Innere Medizin III , Medizinische Universitätsklinik Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Deutschland.
Katus
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HA
D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015994:Incidence; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*