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Metabolische Kardiomyopathien

Metabolic cardiomyopathies

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Zusammenfassung

Die Ätiologie von Kardiomyopathien im Kindesalter ist ausgesprochen heterogen, und nur bei dem kleineren Teil der Fälle kann heute eine Ursache gefunden werden. In diesem Beitrag wird die Rolle angeborener Stoffwechselstörungen an der Entstehung von Kardiomyopathien diskutiert. Glykogenspeicherkrankheiten, Mukopolysaccharidosen, Störungen der Fettsäureoxidation und der Atmungskette sind die wesentlichen Gruppen, bei denen eine Beteiligung des Myokards beobachtet wird. Vor dem Hintergrund möglicher Differenzialdiagnosen wird ein systematisches diagnostisches Vorgehen vorgeschlagen, wozu eine enge Zusammenarbeit von Kinderkardiologen und Stoffwechselmedizinern erforderlich ist. Ziel ist eine Verminderung der Anzahl „idiopathischer“ Kardiomyopathien, damit eine an der Pathogenese orientierte Therapie und eine Verbesserung der bisher schlechten Prognose, zumindest aber eine Diagnose als Grundlage für die genetische Beratung betroffener Familien.

Abstract

Cardiomyopathies of infancy and childhood show a very heterogeneous etiology and only in a minority of cases can a cause be identified. In this article, the role of inborn errors of metabolism in cases of cardiomyopathy in the pediatric population is discussed. Glycogen storage diseases, mucopolysaccharidoses, disorders of fatty acid oxidation, and oxidative phosphorylation are the major groups of diseases that show myocardial involvement. In view of possible differential diagnoses, a systematic diagnostic approach is suggested which requires close cooperation of pediatric cardiologists and metabolic specialists. It is the aim of this strategy to reduce the number of cases of “idiopathic” cardiomyopathy. This should have implications for treatment, should improve prognosis, and should provide a better basis for genetic counseling.

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Authors and Affiliations

  1. Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitäts-Klinikum Eppendorf, Hamburg

    R. Santer

  2. Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitäts-Klinikum Eppendorf, Martinistraße 52, 20246, Hamburg

    R. Santer

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Metabolic Cardiomyopathy

Böhles H, Sewell AC (2004) Medpharm Scientific Publishers, Stuttgart, ISBN 3-88763-104-8. Preis: EUR 64,00

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Santer, R. Metabolische Kardiomyopathien. Monatsschr Kinderheilkd 152, 639–648 (2004). https://doi.org/10.1007/s00112-004-0952-x

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