To describe a case of camptocormia and cardiomyopathy with an intronic mutation of the FLNC gene.

Filamin C (FLNC) mutations have been reported in cardiomyopathies, skeletal myopathies, and sudden cardiac death. While FLNC mutations have various clinical presentations, camptocormia has most commonly been described in Parkinsonian disorders.

A 56-year-old man presented with progressive curvature of his spine for the past five years. Patient reported his mother had developed similar spine curvature and passed away suddenly at age 66 from a "cardiac problem." Patient's brother had an aortic dissection at the age of 40.

Exam was notable for significant flexion of the thoracolumbar spine on upright posture, which resolved in the supine position. Cranial nerves were intact, except shoulder shrug was 3/5 bilaterally. Patient's strength was 3/5 for deltoids, biceps, and triceps bilaterally, and 4/5 for hip flexion, knee flexors, and extensors bilaterally. There was significant atrophy of the pectoralis, paravertebral, and hip muscles.

Serum creatinine kinase (CK) 0.70 mg/dL, and electromyography (EMG) showed irritable myopathy in paraspinal muscles with early recruitment deltoid, biceps and hip flexors. On echocardiogram, left ventricular ejection fraction 40%. MRI of the cervical, thoracic, and lumbar spine showed atrophy of periscapular and paraspinal muscles. Genetic panel conducted through PerkinElmer Genomics and revealed a heterozygous mutation c.1210+3A>G in the intron region of FLNC.

Our case reinforces that the FLNC gene operates through various mechanisms, many of which have yet to be fully understood. We illustrate the variability in the genotypic-phenotypic relationship of an FLNC intronic mutation. Although future studies to be conducted to understand the pathogenesis FLNC splice site mutations, we hope this unique clinical presentation will increase awareness of the broad phenotypic spectrum of FLNC mutations.