Echocardiography: A Gatekeeper to Diagnosis

Cardiac amyloidosis (CA), previously considered a rare disorder, is frequently underdiagnosed. The difficulty in making an early diagnosis of CA must be attributed to the heterogeneity in clinical and imaging findings. Echocardiography represents one of the first tools to raise suspicion of CA and start a diagnostic algorithm for this condition. Transthoracic echocardiography typically shows a thickening of left ventricular (LV) walls, and sometimes also of right ventricular free wall and cardiac valves, an increased volume of both atria and possibly pericardial effusion. Flow Doppler and tissue Doppler imaging are particularly relevant as amyloid accumulation in the ventricular myocardium causes several degrees of diastolic dysfunction, which precedes systolic dysfunction. More advanced techniques, such as speckle tracking imaging, have proved useful to show even earlier disease abnormalities, most notably a reduced global longitudinal strain and reduced contractility of basal segments of the LV, but not of apical segments (apical sparing). Finally, the technique of three-dimensional speckle tracking echocardiography, through software for three-dimensional reconstruction of cardiac volumes, can allow an even more accurate characterization of cardiac morphology and function and identify latent systolic dysfunction.