Diseases originating primarily from cardiac muscle (the myocardium) – the cardiomyopathies – are the third most common cause of heart failure. The most common form of cardiomyopathy is dilated cardiomyopathy (DCM), in which the cardiac cavities are enlarged and there is a loss of systolic and often also of diastolic function. A multifacetted combination of genetic, autoimmune and viral factors is suspected as the cause of DCM, but the involvement of modifier genes and environmental factors is also under discussion. Familial forms appear to account for DCM in up to 40 % of cases. Some of these patients may have an autoimmune disorder or dysregulation or a predisposition for infections. In individuals, this can apparently lead to symptoms of inflammatory DCM, triggered by a particular vulnerability of the myocardium, resulting for example from an infection with cardiotropic viruses or from environmental factors.
The purpose of this subproject is to improve the understanding of the pathogenesis of DCM by answering the following questions. Therefore a detailed family history, which includes the family tree, will be taken. In the second phase of the project all family members will be included, as far as this is possible. Particular questions include the following:
More than 50% of all patients with myocarditis, pericarditis or inflammatory cardiomyopathy are susceptible for autoimmune disease. In these patients, genetic variants (polymorphisms) of genes responsible for inflammatory and autoimmune regulation pathways could be detected that may trigger the development or aggravate the course of the disease in dilative cardiomyopathy. Such genetic information may also be used to predict disease progression and prognosis.
Currently, in a collaborative research project with Astra-Zeneca, these investigations are continued long-term in a multicenter study. Several cooperations within the competence network (e.g. with subproject 6b and 5) are also continuing.
Prof. Dr. Bernhard Maisch
Universitätsklinikum Gießen und Marburg,
Klinik für innere Medizin – Kardiologie, Standort Marburg
Tel.: +49 (0)6421 5866462