Late-Onset Hereditary Transthyretin Amyloidosis Val30Met in an Elderly Person in a Non-Endemic Area

Figures

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  Figure 1. Chest X-ray indicated bilateral pulmonary inflammation and pleural effusion.

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  Figure 2. ECG showed sinus rhythm, left deviation of ECG axis, QRS low voltage on leads of limb, abnormal Q wave of II, III and AVF, and QRS presented as rS pattern in V1-V6 R.

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  Figure 3. (A) Subcostal long-axis view showed the anterior ventricular septum and posterior wall were significantly thickened and a characteristic “granular sparkling” appearance of the thickened cardiac walls. (B) Subcostal 4-chamber view showed the ventricular septum and posterior lateral wall were significantly thickened and a characteristic “granular sparkling” appearance of the thickened cardiac walls. (C) Subcostal short axis view at the level of papillary muscle: all of the basal segments of ventricular wall were significantly thickened with a characteristic “granular sparkling” appearance. (D) The Bull’s eye diagram showed reduced global longitudinal strain (GLS) with apical sparing.

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  Figure 4. Display of chest CT images of the patient. Figure (A–C) were displayed on lung window at the top of the diaphragm at different times. The small calcification shadow on the lung surface at the base of both lungs gradually increased. In additional, they all showed diffuse pulmonary interstitial changes, cystic change and lung consolidation shadows. (D) Mediastinal window on the same plane as figure (A–C): fine sand granular calcification can be seen under the pleura in the lesion of the lower lobe of the left lung, which is clearer than that in the lung window.

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  Figure 5. TTR gene sequencing: A missense mutation c. 148 G-A (p. V50M, Val30Met) was detected in TTR gene.