Case:

55-year old male who was known for several years with asymptomatic concentric left ventricular hypertrophy. This condition was also known in his family, although no genetic testing was performed. He developed complaints of heart failure (NYHA functional class III/IV) for which he was admitted. The ECG showed a decrease in QRS voltage compared to earlier and the ultrasound showed a clear progression of LVH (see below). Among other tests, a cardiac biopsy was done revealing typical findings of amyloid depositions. After staining it was classified as light chain (lambda) amyloid.

Conventional ultrasound:

2D imaging shows severe concentric hypertrophy with a septal wall thickness of 21mm. The right ventricular free wall also shows pronounced hypertrophy. Upon close inspection of the valves, we also see a thickening of the valve leaflets as well as the subvalvular apparatus. The systolic function, when expressed as the LVEF is preserved (53% by 3D). The diastolic function is severely abnormal: all Doppler parameters fit with restrictive function. There is a trace of pericardial effusion and a large body of pleura effusion seen. An interesting finding is the almost absent A-wave in the pulsed-wave Doppler recording of the mitral valve inflow while a distinct P-wave on the ECG was seen. All these findings are typical for cardiac involvement with amyloidosis.

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.

The systolic function, when expressed as the LVEF, is preserved (53% by 3D).

Dopper traces suggesting restrictive LV filling properties. The E/A ratio is 4.5 with a remarkable blunted A-wave (blue arrow), the E/E` 45 (orange arrow). The pulmonic vein flow shows a S:D ratio of <<1 and a short D-deceleration time (green arrow).

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 a relative sparing of the apex.

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 show a moderate reduced value (green circle) and decrease towards zero at 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. In the late diastolic period there is no additional deformation. Indeed, during the P-wave on the ECG, we see no “lengthening” of the myocardium. This implies mechanical atrial standstill.

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.

Note the absence of post systolic strain in the most affected segments (i.e. base of the heart).

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 circumferential 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 less pronounced when comparing to the registrations above, suggesting that the longitudinal function is more impaired than the circumferential function. This is most likely the explanation of the preservation of the LVEF. Nevertheless, the peak circumferential strain is impaired at the base and normalized towards the apex.

The image below shows the absence of any torsion/twist in this patient.

CMR:

Magnetic resonance imaging was performed at a different institution and not all images were available. The severe LV en RV hypertrophy is clearly seen on the provided short axis and long axis cine image stills. The calculated LVEF was 55%. The large amount of bilateral pleural effusion is clearly seen (indicated by the blue star).  The delayed gadolinium enhancement images are unfortunately unavailable. Nevertheless, no clear delayed enhancement was seen in the left ventricle with a remark in the report that there were technical difficulties in suppressing the myocardium, also a typical observation in these patients.