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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2024年8月16日

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  • Shusuke Yagi,
  • Ryosuke Miyamoto,
  • Masayoshi Tasaki,
  • Hiroyuki Morino,
  • Ryuji Otani,
  • Muneyuki Kadota,
  • Takayuki Ise,
  • Hiroki Yamazaki,
  • Kenya Kusunose,
  • Koji Yamaguchi,
  • Hirotsugu Yamada,
  • Takeshi Soeki,
  • Tetsuzo Wakatsuki,
  • Daiju Fukuda,
  • Mitsuharu Ueda,
  • Masataka Sata

摘要

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.