Abstract
Amyloid light-chain (AL) amyloidosis is a rare disease with a broad clinical presentation that depends on the affected organ. Cardiac amyloidosis, a rare entity, can present as an isolated form of AL amyloidosis. This isolated form is considered a challenging diagnosis due to its broad nonspecific clinical presentation. In this article, we report a case of an adult male who presented with shortness of breath and was found to have many specific features of cardiac amyloidosis on echocardiography. In absence of other organ involvement, the results of the echocardiography directed us toward the diagnosis of AL cardiac amyloidosis. In addition, we highlight the role of echocardiography in the diagnosis of cardiac amyloidosis.
Highlights
Amyloid light-chain (AL) amyloidosis is the most common form of systemic amyloidosis and is usually associated with an underlying plasma cell disorder [1]
Findings on echocardiography in AL cardiac amyloidosis are considered valuable in the early detection of this disease
We report the case of a male patient who presented with shortness of breath and was found to have echocardiography findings of cardiac amyloidosis
Summary
Amyloid light-chain (AL) amyloidosis is the most common form of systemic amyloidosis and is usually associated with an underlying plasma cell disorder [1]. We report the case of a male patient who presented with shortness of breath and was found to have echocardiography findings of cardiac amyloidosis. The latter revealed moderate concentric hypertrophy with mild global hypokinesia, a reduced left ventricular ejection fraction of 42%, and an elevated left ventricular filling pressure E/A of more than 2.03 (Figures 1-3). Due to the discordance between the degrees of left ventricular thickness on echocardiography and QRS voltage on ECG, and the presence of apical sparing on strain technique, cardiac amyloidosis was considered as a possible etiology for this cardiomyopathy. Our patient was treated with optimal heart failure medication and started on bortezomib 1.3 mg/m2 per dose for two weeks after which the patient's condition stabilized
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