© 2006 European Society of Cardiology
Familial inflammatory dilated cardiomyopathy
a Philipps-University Hospital, Department of Internal Medicine and Cardiology Baldingerstrasse, 35033 Marburg, Germany
b Department of Pneumology, Philipps-University Hospital Marburg, Germany
* Corresponding author. Tel.: +49 6421 2866462; fax: +49 6421 2868954. E-mail address: portig{at}med.uni-marburg.de
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Abstract |
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Background: Systematic family screening has recently identified dilated cardiomyopathy as an inherited disorder in up to 30% of cases. Mutations in genes encoding proteins responsible for myocardial architecture have been identified, but additional pathophysiological mechanisms including inflammatory reactions have been proposed.
Aims: Identification and characterization of familial DCM, where at least one affected family member fulfils the criteria for inflammatory DCM may lead to a better understanding of the aetiology and pathogenesis of (inflammatory) DCM.
Methods and results: Ten families were examined. In six families, clinical characteristics and mode of inheritance were compatible with pure fDCM, fDCM with conduction defect and autosomal recessive fDCM. In four families, (auto-)immune features were diagnosed in affected and non-affected family members.
Conclusions: Familial DCM with an inflammatory component was identified as a specific subgroup of familial DCM. In most cases, the inflammatory process seems to modify, i.e. aggravate, the "classic, cytoskeletopathic" familial DCM, but in some, especially when taking clinical and genetic aspects into account, inflammatory (auto-)immune features can be addressed as the leading pathogenetic principle. Further elucidation of these families may provide a better insight into pathophysiologic processes and may aid in the development of specific therapeutic strategies.
Key Words: Dilated cardiomyopathy • Familial dilated cardiomyopathy • Inflammatory DCM
Received July 22, 2005; Revised November 22, 2005; Accepted February 8, 2006
1 Current address: Cardiological private practice, Papenburg, Germany.
2 Current address: St. Georg's Hospital, Department of Cardiology, Hamburg, Germany.
3 Current address: Klinikum Villingen Schwenningen, teaching hospital of Freiburg, Department of Cardiology and Pneumology, Villingen-Schwenningen, Germany.
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