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Das Herz bei primären Muskelkrankheiten

  • Chapter
Pathologie des Endokard, der Kranzarterien und des Myokard

Part of the book series: Spezielle pathologische Anatomie ((3009,volume 22 / 2))

Zusammenfassung

In den letzten Jahren haben vor allem molekulargenetische und biochemische Untersuchungen das Verständnis der Pathophysiologie und Pathogenese der primären Muskelkrankheiten, und unter diesen besonders der sog. Dystrophinopathien, wesentlich vertieft und die Diagnostik entscheidend verbessert. Die Charakterisierung des „Dystrophins“ bei der häufigsten Form der progressiven Muskeldystrophien (HOFFMAN et al. 1987) und die Beobachtung, daß dieses an der Zytoplasmamembran lokalisierte Protein nicht nur in der normalen quergestreiften Muskulatur, sondern auch in Herzmuskelzellen, in der glatten Muskulatur und im Gehirn vorkommt, bei den X-chromosomalen progressiven Muskeldystrophien vom Typ Duchenne und Becker-Kiener aber fehlt bzw. funktionell defekt ist, hat eine mehr übergreifende Betrachtung dieser Muskelkrankheiten aus molekularpathologischer Sicht begründet und die Pathologie der Skelettmuskulatur und des Myokards etwas näher zusammenrücken lassen. Insofern ist der Begriff „primäre Muskelkrankheiten“ (ebenso wie auch der Begriff „primäre Kardiomyopathien“) nicht zu eng auszulegen; es soll damit gesagt sein, daß es sich um Erkrankungen handelt, die sich schwerpunktmäßig an der Skelettmuskulatur manifestieren, aber auch mit anderen Organstörungen, insbesondere des Herzens einhergehen können. Wie eng die Zusammenhänge sind, zeigen die Befunde bei X-chromosomalen dilatativen Kardiomyopathien, bei denen ein Defekt im Dystrophin-Gen sowie ein abnormes myokardiales und normales Muskel-Dystrophin gefunden wurden und die damit gleichsam den anderen Schenkel des Spektrums der Dystrophinopathien darstellen.

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    Waldemar Hort

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Feiden, W. (2000). Das Herz bei primären Muskelkrankheiten. In: Hort, W. (eds) Pathologie des Endokard, der Kranzarterien und des Myokard. Spezielle pathologische Anatomie, vol 22 / 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56944-9_14

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