Matsumura Tsuyoshi, Inoue Kimiko, Toyooka Keiko, Inoue Michio, Iida Aritoshi, Saito Yoshihiko, Nishikawa Tatsuya, Moriuchi Kenji, Beck Goichi, Nishino Ichizo, Fujimura Harutoshi
Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan.
Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toneyama 5-1-1, Toyonaka, Osaka 560-8552, Japan.
Neuromuscul Disord. 2021 Dec;31(12):1282-1286. doi: 10.1016/j.nmd.2021.10.002. Epub 2021 Oct 9.
We report a case of a patient presenting with arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors. A 41-year-old woman with a history of hypertrophic cardiomyopathy, diagnosed at 6 years of age, developed scoliosis after puberty. Following spinal surgery to address the scoliosis, she developed recurrent severe arrhythmia and heart failure. She developed hypoventilation at age 29 years. Proximal dominant weakness and mild elevation of serum creatine kinase indicated possible myopathy. Myofibrillar myopathy was diagnosed by muscle biopsy at age 30 year. Acute abdomen was repeatedly reported from age 33 years, eventually leading to a diagnosis of gastric polyp and erosive ulcer. A urinary bladder tumor was found at age 35 years, and breast cancer was diagnosed at age 40 years. Whole exome sequencing detected a heterozygous missense mutation in Filamin C. Recent evidences suggest that filamins are associated with tumors, and this case further highlights the clinical spectrum of filaminopathy.
我们报告了一例患有致心律失常性心肌病、肌原纤维性肌病和多器官肿瘤的患者。一名41岁女性，6岁时被诊断为肥厚型心肌病，青春期后出现脊柱侧弯。在接受脊柱手术治疗脊柱侧弯后，她出现了反复发作的严重心律失常和心力衰竭。她在29岁时出现通气不足。近端优势性肌无力和血清肌酸激酶轻度升高提示可能存在肌病。30岁时通过肌肉活检诊断为肌原纤维性肌病。33岁起反复出现急腹症，最终诊断为胃息肉和糜烂性溃疡。35岁时发现膀胱肿瘤，40岁时诊断为乳腺癌。全外显子组测序检测到细丝蛋白C存在杂合错义突变。最近的证据表明细丝蛋白与肿瘤有关，该病例进一步凸显了细丝蛋白病的临床谱。
