Cardiac Amyloidosis: The Importance of Echocardiography for Early Diagnosis
DOI:
https://doi.org/10.24950/rspmi.2718Keywords:
Amyloidosis/diagnostic imaging, Cardiomyopathies/diagnostic imaging, Cardiomyopathy, Restrictive/diagnostic imaging, EchocardiographyAbstract
Cardiac amyloidosis is an infiltrative and progressive disease that often causes restrictive cardiomyopathy and heart failure with preserved ejection fraction. Two types of protein precursors are responsible for most cardiac amyloidosis cases: transthyretin amyloid (ATTR) and monoclonal immunoglobulin light chains (AL). We present the case of a 75-year-old man admitted in the urgency department with signs and symptoms of heart failure. After performing a transthoracic echocardiogram, the hypothesis of cardiac amyloidosis was raised. The investigation of monoclonal light chains of immunoglobins continued to assess the possibility of AL amyloidosis. Given the negative results, 99mTc di-phosphonate scintigraphy and genetic tests were performed, confirming wild-type ATTR amyloidosis.
We discuss the clinical and diagnostic features of cardiac amyloidosis, with the aim of increasing awareness of this systemic disease so that it can be recognized, diagnosed and treated promptly. We also aim to demonstrate the potential of transthoracic echo-cardiography as a first-line examination.
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