Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors.

Abstract

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.

• Authors: Tsuyoshi Matsumura, Kimiko Inoue, Keiko Toyooka, Michio Inoue, Aritoshi Iida, Yoshihiko Saito, Tatsuya Nishikawa, Kenji Moriuchi, Goichi Beck, Ichizo Nishino, Harutoshi Fujimura
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 31 Issue 12 Pg. 1282-1286 (12 2021) ISSN: 1873-2364 [Electronic] England
• PMID: 34857437 (Publication Type: Case Reports, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2021 Elsevier B.V. All rights reserved.

Topics

• Adult
• Breast Neoplasms (etiology)
• Cardiomyopathy, Hypertrophic (etiology)
• Female
• Humans
• Muscular Dystrophies (complications)
• Myopathies, Structural, Congenital (etiology)
• Urinary Bladder Neoplasms (etiology)