gms | German Medical Science

33. Internationale Konferenz für Elektrokardiographie

Internationale Konferenz für Elektrokardiographie

Danon Disease – an X-linked hereditary cardiomyopathy with life threatening arrhythmias

Meeting Abstract

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  • corresponding author presenting/speaker P. Schwarz - Klinik für Pädiatrische Kardiologie, Homburg/Saar, Germany
  • I. Kindermann - Klinik für Innere Medizin III, Homburg/Saar, Germany
  • A. Lindinger - Klinik für Pädiatrische Kardiologie, Homburg/Saar, Germany

33rd International Congress on Electrocardiology. Cologne, 28.06.-01.07.2006. Düsseldorf, Köln: German Medical Science; 2007. Doc06ice138

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Veröffentlicht: 8. Februar 2007

© 2007 Schwarz et al.
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Danon disease is an X-linked cardiomyopathy, which is characterized by the triad of cardiomyopathy with arrhythmias, mild sceletal myopathy and a mild mental retardation. The primary defect is a deficiency of LAMP-2 (lysosomal associated membrane protein-2) represented by typical autophagic vacuoles in the muscular fibers. Danon disease may be an underrecognized cause of cardiomyopathy showing a progression from hypertophic to dilated cardiomyopathy which is associated with arrhythmias, in particular preexcitation pattern in the ecg and life threatening ventricular and supraventricular tachycardias. In comparison to other forms of cardiomyopathy, Danon disease has a poor prognosis. Most of the male patients die before the age of 25 yrs, while the affected female patients have a less severe course. In a review of the literature 23 male and 26 female cases with Danon disease are presented including two own patients: about 50 % had a preexcitation pattern; other frequent findings were left bundle branch block, atrioventricular block, atrial flutter or fibrillation, supraventricular and ventricular tachycardias. In most cases the arrhythmias were refractory to pharmacologic or electrophysiologic therapy (including ICD implantation) and subsequently caused the poor prognosis of the disease. In conclusion Danon disease should be considered in the setting of cardiomyopathy, preexcitation pattern and complex arrhythmias. Considering the rapid progression and poor outcome despite polypragmatic therapy, heart transplantation should be discussed in early stage of the disease.