Case:

A 71-year old male who was known for several years with asymptomatic moderate concentric left ventricular hypertrophy and a paroxysmal 2nd degree Wenckebach AV-block. He developed heart failure / congestion due to atrial fibrillation with a total AV-block with a junctional rhythm of 45/min. He was admitted and recompensed. The echocardiogram and CMR were very suggestive of amyloid depositions in the heart (see below) with no other signs of amyloidosis (besides a moderate increase in liver size and a slight elevation of free light chains). A cardiac biopsy was done revealing typical findings of amyloid depositions. Staining was positive with regard to the transthyretin immuno staining, fitting TTR amyloidosis.

Conventional ultrasound:

2D imaging shows concentric hypertrophy with a septal wall thickness of 18mm. The right ventricular free wall does not show pronounced hypertrophy. There are no valvular abnormalities. The systolic function, when expressed as the LVEF is preserved (58% by 3D). The diastolic function is severely abnormal: all Doppler parameters fit with restrictive function with an E/E`of 24. The left atrial volume is 45ml/m2. There is no pericardial effusion or pleura effusion seen.

Of note, a “speckled myocardium” or “starry sky aspect” of the myocardium should not be sought using current high end ultrasound machines. Due to second harmonics, this can be appreciated in almost every echocardiographic examination.

Dopper traces suggesting restrictive LV filling properties. The E max velocity is 90 cm/sec and an L-wave is seen. The E/E` is 24 (orange arrow). The pulmonic vein flow shows a S:D ratio of <<1 and a short D-deceleration time (red dashed line).

Deformation imaging:

The bulls-eye plot of the peak systolic strain values in the LV shows the typical appearance of amyloidosis; there is a severe impairment of peak systolic longitudinal strain values in the basal segments with sparing of the apex (normal values).

The images below show several specific findings of deformation characteristics associated with this disease (all can be appreciated in every single image).

The first image below shows the deformation characteristics of the left ventricle in the 4-chamber view. Note the progressive reduction in peak systolic strain from apex towards the base (indicated by the blue arrows). This is not restricted to a single wall, but seen in the entire left ventricle. The apical segments in this patient normal peak systolic values (green circle) and show a progressive decrease towards the base of the heart (orange and red circles).

In the second image we focus on the diastolic deformation pattern. The early filling phase is characterized by a rapid regression of the deformation graph toward the zero-line in alle segments. This fits the diastolic properties we have seen in the Doppler traces above. Due to atrial fibrillation, there is no additional deformation in the late diastolic period.

The third apical view focuses on the absence of post systolic shortening. While the impairment of longitudinal shortening from apex towards base is clearly seen (yellow arrow), we do not see any post systolic shortening in any segment, irrespective of the reduction in systolic strain.. This is a typical finding in this disorder.

A coincidental finding in this patient is the reduction of peak systolic strain values in the right ventricle, mirroring the findings we have seen in the LV.

The images below show the radial strain graphs and values in the base of the heart (top image) and the apex (bottom image). At the base of the heart, the reduction of peak systolic strain values is as pronounced as the longitudinal function. Radial strain values are normalized towards the apex.

The image below shows a reduction in systolic torsion/twist in this patient. Also the rapid diastolic untwisting is absent in this case

CMR:

Magnetic resonance imaging was performed shorty after the echocardiogram. It conformed the concentric LVH (septal thickness 17mm and all other walls 15mm). LVEF was preserved. There was no pericardial effusion and no pleural effusion seen.

The delayed enhancement acquisitions als fit with amyloid depositions: the suppression of myocardial tissue was difficult (the inversion time to null normal myocardial signal in cases of diffuse amyloidosis is difficult since the infiltrative amyloid protein causes T1 prolongation) and there was diffuse subendocardial circumferential delayed enhancement seen in the LV. Finally, a complete transmural enhancement of the left atrial wall was seen, a typical finding is this disease