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Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

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Abstract

A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation. During the course of the disease, his mother developed severe dilated cardiomyopathy and died of its complications at 46 years of age. The combination of myopathy and cardiomyopathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree suggested Danon disease (MIM 300257), an X-linked lysosomal storage disorder caused by deficiency of lysosome-associated membrane protein-2 (LAMP2). The diagnosis was confirmed by the identification of a novel mutation, G138A, in the LAMP2gene, leading to the premature stop codon W46X. Conclusion:Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic option.

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Abbreviations

LAMP2 :

lysosome-associated membrane protein-2

SSCP :

single strand conformational polymorphism

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Acknowledgement

We thank Dr. Max A. Spycher, Department of Pathology, Faculty of Medicine, University of Zurich, for his excellent electron microscopic evaluation.

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Authors and Affiliations

  1. Department of Paediatric Cardiology, University Children’s Hospital, Steinwiesstrasse 75, 8032 , Zurich, Switzerland

    Christian Balmer & Urs Bauersfeld

  2. Division of Metabolism and Molecular Paediatrics, University Children’s Hospital, Zurich, Switzerland

    Diana Ballhausen, Nils U. Bosshard & Beat Steinmann

  3. Division of Neurology, University Children’s Hospital, Zurich, Switzerland

    Eugen Boltshauser

  4. Division of Molecular Paediatrics, University Hospital Lausanne (CHUV), Lausanne, Switzerland

    Andrea Superti-Furga

Authors
  1. Christian Balmer
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  2. Diana Ballhausen
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  3. Nils U. Bosshard
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  4. Beat Steinmann
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  5. Eugen Boltshauser
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  6. Urs Bauersfeld
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Correspondence to Christian Balmer.

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Balmer, C., Ballhausen, D., Bosshard, N.U. et al. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur J Pediatr 164, 509–514 (2005). https://doi.org/10.1007/s00431-005-1678-z

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  • DOI: https://doi.org/10.1007/s00431-005-1678-z

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