Fulltext

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene

Balmer, Christian ; Ballhausen, Diana ; Bosshard, Nils ; Steinmann, Beat ; Boltshauser, Eugen ; Bauersfeld, Urs ; Superti-Furga, Andrea

In: European Journal of Pediatrics, 2005, vol. 164, no. 8, p. 509-514

Ajouter à la liste personnelle
    Titre
    • Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene
    Auteur
    • Balmer, Christian. Department of Paediatric Cardiology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Ballhausen, Diana. Division of Metabolism and Molecular Paediatrics, University Children's Hospital, Zurich, Switzerland
    • Bosshard, Nils. Division of Metabolism and Molecular Paediatrics, University Children's Hospital, Zurich, Switzerland
    • Steinmann, Beat. Division of Metabolism and Molecular Paediatrics, University Children's Hospital, Zurich, Switzerland
    • Boltshauser, Eugen. Division of Neurology, University Children's Hospital, Zurich, Switzerland
    • Bauersfeld, Urs. Department of Paediatric Cardiology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Superti-Furga, Andrea. Division of Molecular Paediatrics, University Hospital Lausanne (CHUV), Lausanne, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • European Journal of Pediatrics, 2005, vol. 164, no. 8, p. 509-514. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:311301
    Summary
    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