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Medizinische Klinik

, Volume 93, Issue 4, pp 210–214 | Cite as

Genetik der dilatativen Kardiomyopathie

  • Ludwig Thierfelder
Übersicht

Zusammenfassung

□ Die dilatative Kardiomyopathie (DCM) ist eine Herzmuskelerkrankung, die gekennzeichnet ist durch eine Erweiterung aller Herzhöhlen sowie eine eingeschränkte kardiale Pumpfunktion. Bei einer zunehmenden Anzahl von Patienten mit dilatativer Kardiomyopathie kann heute eine Ursache identifiziert werden, die restlichen Fälle werden als idiopathische dilatative Kardiomyopathie eingestuft.

□ Ursächlich könnten bei der idiopathischen dilatativen Kardiomyopathie immunologische, virale, toxische und genetische Faktoren eine Rolle spielen. Nicht nur die Ursachen, auch das klinische Bild der dilatativen Kardiomyopathie ist heterogen. In der Mehrheit der Fälle tritt die dilatative Kardiomyopathie als isolierte myokardiale Dilatation und Dysfunktion auf. Bei einigen Patienten gehen der myokardialen Pumpfunktionsstörung supraventrikuläre Herzrhythmusstörungen voraus. Andere Patienten weisen neben einer kardialen auch eine Skelettmuskelbeteiligung auf. Genetische Studien haben ergeben, daß ca. 20 bis 35% aller Fälle von idiopathischer dilatativer Kardiomyopathie primär durch monogene Defekte verursacht sind. Defekte mit autosomal-dominanten DCM-Mutationen liegen auf den Chromosomen 1p1–q1, 1q32, 3p22–p25, 6q23, 9q13 und 10q21−q23. Rezessive genetische Defekte im Dystrophingen des X-Chromosoms können eine dilatative Kardiomyopathie bei der Duchenneschen oder Beckerschen Dystrophie verursachen, allerdings sind auch Dystrophinmutanten bekannt, die zu einer X-chromosomalen dilatativen Kardiomyopathie ohne Skelettmuskelerkrankung führen können. Ob die Krankheitsgene der autosomal-dominanten dilatativen Kardiomyopathie ebenfalls für Strukturproteine des Zytoskeletts (wie das Dystrophingen) kodieren, ist nicht bekannt, da bisher noch keines der autosomalen Krankheitsgene identifiziert werden konnte.

Schlüsselwörter

Dilatative Kardiomyopathie Klinische Genetik Molekulargenetik 

Genetics of dilated cardiomyopathy

Summary

□ Dilated cardiomyopathy (DCM) is a heart muscle disorder characterized by cardiac dilatation and impaired systolic function. In an increasing number of all DCM cases a specific etiology can be identified and in the remaining patients DCM is termed idiopathic.

□ There is a wide variation of the clinical presentation in DCM. The majority of patients manifests classical disease, i. e. heart failure due to left (and right) ventricular systolic dysfunction. However, some cases may come to clinical attention because of supraventricular arrhythmias such as sinus node dysfunction, AV-block or atrial fibrillation. Although a multitude of etiologies may be responsible for DCM (e. g. viral, immunological, toxic), the disease is inherited as a single gene disorder in at least 20 to 35% of cases. Most genetic forms of DCM are caused by autosomal dominant gene defects. Six dominant disease loci on chromosomes 1p1–q1, 1q32, 3p22–p25, 6q23, 9q13 und 10q21–q23 have been identified but the corresponding disease genes are not yet known. X-linked DCM without skeletal muscle disease is a rare variety of adult DCM which can be caused by specific mutations in the dystrophin gene on chromosome Xp21.

Key words

Dilated cardiomyopathy Clinical genetics Molecular genetics 

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Copyright information

© Urban & Vogel 1998

Authors and Affiliations

  1. 1.Max-Delbrück-Centrum für Molekulare Medizin (MDC) und Franz-Volhard-Klinik am Virchow-Klinikum der Humboldt-Universität zu BerlinBerlin

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