Severe Aortic Stenosis and ATTRwt Amyloidosis – Beware in the Aging: A Case Report and Review of the Literature

Figures

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  Figure 1. Baseline 12 leads ECG of our patient revealing atrial fibrillation with normal ventricular response (70 beats per minute), pseudoinfarction pattern in the inferior (QS complex in DII, DIII, aVF) and anterior (QS complex in V1-V2) leads, a normal voltage of the QRS complex and secondary changes of ST-T.

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  Figure 2. Echocardiographic evaluation at diagnosis. (A) 2D TTE, parasternal long-axis view in diastole where the maximum wall thickness was measured (24 mm at the level of basal interventricular septum). One can also observe the calcified aortic valve and posterior mitral ring. (B) 2D TTE, apical 4 chambers view in systole showing severe LV hypertrophy, a small cavity of the LV, biatrial enlargement, thickened RV free wall, a small pericardial effusion near the right atrial roof and a posterior mitral ring calcification. (C) 2D TTE, apical triplane imaging of the LV in diastole illustrating the apical 4 chambers, 2 chambers and 3 chambers views where one can confirm the severe LV hypertrophy with the calcified closed aortic valve. (D) Low myocardial systolic and protodiastolic velocities (3 cm/s) measured by TDI from the 2D TTE apical 4 chambers view at the level of the interventricular septum. (E) Automated function imaging derived from the 2D speckle tracking echocardiography revealing severe longitudinal systolic dysfunction of the LV (GLS= −9.1%) with a particular apical sparing pattern of the bull’s eye view which is highly suggestive of CA. (F) 2D TTE, continuous-wave Doppler…

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  Figure 3. 99mTc-HMDP whole-body scintigraphy planar image showing important myocardial uptake of the bone tracer (Perugini grade 3) which is highly suggestive of ATTR cardiac amyloidosis.

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  Figure 4. Contrast enhanced CMR imaging. (A–C) Cine (balanced SSFP) still frames in longitudinal 3 and 4 chambers and in short axis respectively, showing marked LV hypertrophy located predominantly at the base of the heart, with a relatively thinner apical region. (D) Native T1 map in short axis view showing high T1 time measured on 1.5 T scanner. (E, F) Late Gadolinium enhancement imaging with phase-sensitive inversion recovery reconstruction (PSIR) in longitudinal 2 chambers and short-axis views respectively, showing global subendocardial with transmural areas of myocardial hyperenhancement, with a dark blood pool.

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  Figure 5. Transthoracic echocardiography at 1 month after after TAVR. 2D TTE, parasternal long-axis view in diastole (A) and a zoomed image with color Doppler at the level of the aortic valve (B) showing a normal looking biological prosthesis (Eduards Sapien) with no significant paraprosthetic leak. 2D TTE, apical 5 chambers view with spectral Doppler evaluation of transvalvular flow by continuous-wave Doppler (C) and left ventricle outflow tract flow by pulsed-wave Doppler (D) revealing a normal function of the prosthesis (AV peak velocity 1.75 m/s, AV peak and mean pressure gradients 12 and 7 mmHg, respectively, AV velocity time integral 29.5 cm, left ventricle outflow tract velocity time integral 17 cm, AV effective orifice area 2 cm2). 2D TTE, apical triplane imaging of the LV in diastole (E) illustrating the apical 4 chambers, 2 chambers and 3 chambers views and automated function imaging derived from the 2D speckle tracking echocardiography (F) revealing a slight amelioration of the LV longitudinal systolic dysfunction which is still severely impaired (GLS= −11.7%) with the same particular apical sparing pattern of the bull’s eye view.

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  Figure 6. 24h ECG Holter Monitoring showing permanent atrial fibrillation with low heart rates (spontaneous average 24h heart rate 52 bpm and limits between 25–84 beats per minute) and multiple and prolonged pauses (max. 3.9 s) and intermittent periods of complete heart block.

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  Figure 7. Proposed algorithm for cardiac amyloidosis detection in aortic stenosis patients. Abbreviations: AL, light-chain amyloidosis; ATTRv, variant transthyretin amyloidosis; ATTRwt, wild-type transthyretin amyloidosis; ATTR, transthyretin amyloidosis; AV, atrioventricular; DPD, 3,3-diphosphono-1,2-propanodicarboxylic acid; ECV, extracellular volume; EMB, endomyocardial biopsy; HMDP, hydroxymethylene diphosphonate; IAS, interatrial septum; LGE, late Gadolinium enhancement; LVEF, left ventricle ejection fraction; LV, left ventricle; MGUS, monoclonal gammopathy of undetermined significance; MRI, magnetic resonance imaging; PYP, Pyrophosphate; RV, right ventricle; SPIE, serum protein immunofixation electrophoresis; TAVR, transcatheter aortic valve replacement; UPIE, urine protein immunofixation electrophoresis; TTR, transthyretin.