• Internal medicine · Aug 2024

    Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) gene: A Case Report.

    • Yoichiro Nakagawa, Kenshi Hayashi, Takayasu Tada, Miwako Asakawa, Shohei Yoshida, Akihiro Nomura, Kenji Miwa, Hiroshi Furusho, Masayuki Takamura, and Toshihiko Yasuda.
    • Department of Cardiology, Ishikawa Prefectural Central Hospital, Japan.
    • Intern. Med. 2024 Aug 8.

    AbstractDanon disease (DD) is a rare lysosomal storage disorder resulting from pathogenic variants of the lysosome-associated membrane protein type 2 (LAMP-2) gene. The disease is characterized by severe cardiomyopathy, which rapidly progresses to end-stage heart failure. This case, with DD caused by a missense variant, exhibited slow progressive cardiomyopathy and survived for an extended period despite being a male. A pathological analysis revealed that only a minority of the samples exhibited autophagic vacuoles with unique sarcolemmal features (AVSFs), which are typical of DD. Importantly, LAMP-2 expression was absent and the myocardial tissue contained a substantial amount of p62-positive aggregates.

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