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Kardiale Manifestationen bei Muskeldystrophien

Cardiac manifestations of muscular dystrophies

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Summary

Muscular dystrophies (MD) are a clinically and genetically heterogenous disease group. In the last few years, remarkable progress has been made in understanding the close und various relations between skeletal muscle disease and heart muscle disease. Cardiac involvement has been documented in a number of primary MDs and is even the dominant feature in some of them. The myocardium can be affected in the form of a dilated cardiomyopathy while the conduction system can be affected resulting in arrhythmias and conduction defects. Many patients with MD die because of cardiac complications like sudden cardiac death or congestive heart failure. Detailed clinical data about cardiac involvement are available for Duchenne/Becker MD, Emery-Dreifuss MD, myotonic dystrophy, and the different limb girdle MDs. Cardiac manifestations were also found in congenital MD, central core disease, proximal myotonic myopathy, and nemaline myopathy. No data about cardiac abnormalities are available in oculopharyngeal MD and rippling muscle disease. The heart of patients with primary MD should be carefully investigated because of the life-threatening events caused by cardiac complications. There is a strong need for a close collaboration between neurologists and cardiologists in order to provide optimal disease management for the affected patients.

Zusammenfassung

Die Muskeldystrophien (MD) stellen sich als eine klinisch und genetisch sehr heterogene Krankheitsgruppe dar. In den vergangenen Jahren wurde zunehmend erkannt, dass es vielfältige und enge Beziehungen zwischen Muskeldystrophien und Kardiomyopathien gibt. Eine kardiale Beteiligung ist bei vielen unterschiedlichen primären MD-Formen gefunden worden und stellt bei einigen einen dominierenden Aspekt der Erkrankung dar. Die Herzbeteiligung betrifft meist das Myokard in Form einer dilatativen Kardiomyopathie und/oder das Reizleitungssystem in Form bradykarder Rhythmusstörungen. Viele Patienten mit MD versterben aufgrund dieser Manifestationen am Pumpversagen oder am plötzlichem Herztod. Bei der Duchenne/Becker MD, der Emery-Dreifuss MD, der myotonen Dystrophie und den Gliedergürtel- MDs ist die kardiale Manifestation detailiert und umfassend beschrieben worden. Eine Herzbeteiligung ist ebenfalls gefunden worden bei der kongenitalen MD, der Central Core Disease, der proximalen myotonen Myopathie und der Nemalin-Myopathie. Bei einigen seltenen Formen wie der okulopharyngealen MD und der Rippling Muscle Disease liegen keine Erkenntnisse zur Herzbeteiligung vor. Die kardiale Diagnostik sollte eine zentrale Rolle bei der Untersuchung von Patienten mit Muskelerkrankungen spielen, da kardiale Komplikationen oft lebensbedrohend sein können. Diagnostik und Therapie von Muskeldystrophien sollten in enger Zusammenarbeit von Neurologen und Kardiologen interdisziplinär erfolgen, um eine optimale Betreuung der Patienten zu gewährleisten.

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Authors and Affiliations

  1. Charité, Universitätsmedizin Berlin, Kardiologie am Campus-Virchow-Klinikum und Campus Buch und Max-Delbrück-Centrum für Molekulare Medizin, Wiltbergstr. 50, 13125, Berlin, Germany

    A. Perrot, C. Geier, R. Dietz & K. J. Osterziel

  2. Charité, Universitätsmedizin Berlin, Neurologische Klinik am Campus-Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany

    S. Spuler

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  1. A. Perrot
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  2. S. Spuler
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  4. R. Dietz
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  5. K. J. Osterziel
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Correspondence to A. Perrot.

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Perrot, A., Spuler, S., Geier, C. et al. Kardiale Manifestationen bei Muskeldystrophien. ZS Kardiologie 94, 312–320 (2005). https://doi.org/10.1007/s00392-005-0232-3

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  • DOI: https://doi.org/10.1007/s00392-005-0232-3

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