Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

Abstract

Background: Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B. Here we present a young stroke patient who had a novel lamin A/C gene (LMNA) mutation.

Case presentation: This is a 39-year-old man who had slowly progressive proximal muscle weakness and cardiac arrhythmia since adolescent and a family history of similar manifestation. He sustained acute ischemic stroke in the left middle cerebral artery territory. Intravenous recombinant tissue plasminogen activator therapy was given with significant neurological improvement. Additionally, genetic sequencing of the LMNA gene of the patient identified a mutation in c.513+1 G>A that resulted in a splicing aberration.

Conclusion: We suggested that LMNA gene related myopathies should be considered in young stroke patients with long-standing myopathic features.

Figure 1

CT imaging of the patient. (a, b) Reconstructed CT angiography revealed nearly total occlusion of left proximal middle cerebral artery (marked by the arrows). (c, d) CT perfusion study showed prolonged mean transit time (the blue area indicates the area of prolonged transit time) in most of the left cerebral hemisphere, which indicated reduced perfusion. (e, f) Follow-up non-contrast CT one day after the stroke showed a hypodensity in the left basal ganglia and peri-sylvian area, suggestive of a recent infarct. The size was much smaller than the previous perfusion defect.

Figure 2

The results of genetic sequencing of the LMNA gene. In this electropherogram, the green line represents adenine (A), the blue line represents cytosine (C), the black line represents guanine (G), and the red line represents thymine (T). Compared with the wild type (WT, the lower part), our patient carries a heterozygous mutation of “G” to “A” transition at intron 2 (c.513+1 G>A, the upper part).