Die Fabry-Kardiomyopathie als Differenzialdiagnose des akuten Koronarsyndroms

Abstract

The progressive cardiomyopathy in patients with Fabry disease is often accompanied by angina pectoris and elevated levels of high-sensitive troponin T (hs-TnT), potentially mimicking acute coronary syndrome. Here, we present to representative cases with focus on clinical, diagnostic and therapeutic settings. An overview on the cardiomyopathy associated with Fabry disease and its role as differential diagnosis of acute coronary syndrome is provided. Fabry cardiomyopathy might exhibit similar clinical and biochemical constellations as seen in acute coronary syndrome. Thus, Fabry cardiomyopathy should be considered a differential diagnosis in acute coronary syndrome, particularly in patients demonstrating left ventricular hypertrophy of unknown origin.

Erhöhte Troponin-Werte im Serum sind häufig Ausdruck eines akuten Koronarsyndroms. Allerdings kommen differenzialdiagnostisch auch zahlreiche weitere Pathologien in Betracht. Dazu gehören angeborene und erworbene Kardiomyopathien, die spätestens nach Ausschluss eines akuten Koronarsyndroms weiter abgeklärt bzw. ausgeschlossen werden sollten. Die erhöhten Werte können auch auf eine kardiale Beteiligung bei Morbus Fabry hinweisen. Aufgrund der Seltenheit der Erkrankung wird diese oftmals zunächst nicht erkannt, sodass eine spezifische kausale Therapie ausbleibt oder erst im Spätstadium der Erkrankung initiiert wird.

Schlüsselwörter

Akutes Koronarsyndrom - Fabry Kardiomyopathie - Troponin - Hypertrophe Kardiomyopathie - Lysosomale Speicherkrankheit - Myokardinfarkt

Key words

acute coronary syndrome - fabry cardiomyopathy - troponin - hypertrophic cardiomyopathy - lysosomal storage disorders - myocardial infarction

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