Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report

Objective: Rare coexistence of disease or pathology Background: Filamin C (FLNC) is an actin crosslinking protein that provides structural support for the sarcomere. The exact function of FLNC is unknown; however, mutations have been reported in myopathies and cardiomyopathies, but rarely both. In this paper, we describe a case of adult-onset camptocormia, proximal myopathy, and car-diomyopathy and an intronic FLNC mutation. Case Report: A 56-year-old man was referred to the neurology clinic for truncal weakness. The patient reported having cur-vature of his spine, which he said his mother also had prior to her dying suddenly due to a "cardiac issue." The patient was found to have fatty infiltration of the periscapular and paraspinal muscles. Additionally, electro-myography revealed irritable myopathy of the paraspinal muscles, and an echocardiogram revealed an ejec-tion fraction of 40%. A genetic panel conducted through PerkinElmer Genomics revealed a heterozygous mu-tation c.1210+3A>G in the intron region of FLNC. Due to his low ejection fraction and family history of sudden cardiac death, he received an implantable cardioverter-defibrillator and began carvedilol. The patient received physical therapy for camptocormia. Conclusions: The variability in genotypic-phenotypic relationships of FLNC mutations is a growing area of research. It is im-portant to increase awareness to further the development of gene-targeted therapies. We hope this unique clinical presentation of co-occurring skeletal and cardiomyopathy secondary to an intronic mutation will in-crease awareness of the broad phenotypic spectrum of FLNC mutations.