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Letter to the Editor

First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant

, , &
Article: 2174269 | Received 30 Sep 2022, Accepted 25 Jan 2023, Published online: 03 Feb 2023

Figures & data

Figure 1. (A, B) Electrocardiogram - Atrial flutter and left bundle branch block.

(C, D) Transthoracic echocardiography - Left ventricular hypertrophy (lVSd 12mm, PWd 10mm), along with speckled pattern in the myocardium. (E) Strain echocardiography - Speckled tracking revealed marked diminution of global longitudinal strain (-12) depicted in bulls-eye plot with apical sparing. (F, G) Tissue Doppler study revealed grade 2 left ventricular diastolic dysfunction (E/A mitral ratio 1,3, DT 210ms, E/è13,7). (H) Multiplanar single photon emission computed tomography (SPECT)- Showing myocardial tracer uptake, mostly in the left ventricle and septum with some heterogeneity in uptake intensity. (I) Pretreatment whole body 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy - Showing very high 99mTc -DPD-uptake in the heart, Perugini grade 3.

Figure 1. (A, B) Electrocardiogram - Atrial flutter and left bundle branch block.(C, D) Transthoracic echocardiography - Left ventricular hypertrophy (lVSd 12mm, PWd 10mm), along with speckled pattern in the myocardium. (E) Strain echocardiography - Speckled tracking revealed marked diminution of global longitudinal strain (-12) depicted in bulls-eye plot with apical sparing. (F, G) Tissue Doppler study revealed grade 2 left ventricular diastolic dysfunction (E/A mitral ratio 1,3, DT 210ms, E/è13,7). (H) Multiplanar single photon emission computed tomography (SPECT)- Showing myocardial tracer uptake, mostly in the left ventricle and septum with some heterogeneity in uptake intensity. (I) Pretreatment whole body 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy - Showing very high 99mTc -DPD-uptake in the heart, Perugini grade 3.

Figure 2. Fat tissue with amyloid deposition (arrows in all panels). (A) Hematoxylin eosin stain showing eosinophilic amorphous material. (B) Immunohistochemistry shows a positive reaction for transthyretin in the depositions. (C) Congo red stain is positive with orange color in the depositions and shows (D) green and orange birefringence under polarized light.

Figure 2. Fat tissue with amyloid deposition (arrows in all panels). (A) Hematoxylin eosin stain showing eosinophilic amorphous material. (B) Immunohistochemistry shows a positive reaction for transthyretin in the depositions. (C) Congo red stain is positive with orange color in the depositions and shows (D) green and orange birefringence under polarized light.