PMC9788895_01
ECG at presentation showing sinus tachycardia and a right axis deviation. P wave duration of 120 ms with deep terminal portion > 1 mm (left atrial component) in V1 indicative of a dilated left atrium. The dilated left atrium is a result of an increased volume load from the severe mitral regurgitation.
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Sinus tachycardia and a right axis deviation were seen on the electrocardiogram (figure 1).
Echocardiogram 5 weeks post imatinib: (a) 2D parasternal long axis view showing dilated left ventricle, left atrium and thickened mitral valve leaflets. (b) 2D apical 4-chamber view showing severe mitral regurgitation on colour doppler.
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Measured left ventricular ejection fraction was 63% (Figure 2).
Bone marrow aspirate morphology and FISH result: (a) Bone marrow aspirate showing (i) eosinophilic myelocyte (ii) eosinophilic metamyelocyte (iii) eosinophilic band (iv) normoblast (b) FISH signal pattern at diagnosis indicative of deletion of CHIC2 gene. FISH signal patterns in nuclei having interstitial deletions of the orange probe target (CHIC2) should be observed as one tri-colour fusion and one green/aqua fusion. (c) FISH signal pattern 3 months post imatinib showing no evidence of CHIC2 deletion.
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No blasts were noted (Figure 3). FISH analysis was positive for deletion of CHIC2 in 67% of interphase cells analysed (Figure 3). Repeat FISH analysis 3 months after starting imatinib showed no evidence of CHIC2 deletion in 100% of the interphase cells analysed (Figure 3).