case_images: PMC10078958_01
case_images: (A) Chest radiography revealed dilatation of both pulmonary arteries. (B) Electrocardiography showed right-axis deviation, increased V1 R wave, and negative T waves in II/III/aVF/V2, indicating right ventricular strain. (C) Echocardiography revealed right ventricular dilation and flattening of the interventricular septum, and the estimated right ventricular systolic pressure was elevated to 64 mmHg. (D) Contrast-enhanced computed tomography of the chest showed centrilobular granular shadows and ground glass opacities in both lungs, and no thrombus was present in the pulmonary arteries. (E) Pulmonary ventilation scintigraphy showed no deficit, and pulmonary blood flow scintigraphy showed mild physiological hypointensity in the upper lobes of both lungs.
case_images: fgene-14-1148067-g001.jpg
case_images: PMC10078958_01_fgene-14-1148067-g001.jpg
case_images: F1
case_images: Chest radiography revealed dilatation of both pulmonary arteries (Figure 1A), and electrocardiography showed right-axis deviation, increased V1 R wave, and negative T waves in II/III/aVF/V2, indicating right ventricular strain (Figure 1B). Echocardiography revealed right ventricular dilation and flattening of the interventricular septum, and the estimated right ventricular systolic pressure was elevated to 64 mmHg (Figure 1C). Contrast-enhanced computed tomography of the chest showed centrilobular granular shadows and ground glass opacities in both lungs, and no thrombus was present in the pulmonary arteries (Figure 1D). Pulmonary ventilation scintigraphy showed no deficit, and pulmonary blood flow scintigraphy showed mild physiological hypointensity in the upper lobes of both lungs (Figure 1E). Whole-exome sequencing was performed on this case and revealed two likely pathogenic null variants, c.2308 + 2T>C and c.3045_3048dupTACC (p.Thr1017TyrfsX54), at the locus of AGL, a known causative gene for GSD-III (see Method and Supplementary Figure S1).