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When a Common Presentation of Heart Failure Leads ...
When a Common Presentation of Heart Failure Leads to the Uncommon Diagnosis of Cardiac Amyloidosis Case Reprt
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This case report describes a 65-year-old woman with hyperlipidemia who presented with worsening shortness of breath after being treated for presumed pneumonia. Despite antibiotics, her symptoms progressed, and she was found to be volume overloaded in the emergency department. Initial testing showed elevated BNP, normal white blood cell count, and CT pulmonary angiography negative for pulmonary embolism but notable for cardiomegaly, septal thickening, and bilateral pleural effusions. She was admitted with a working diagnosis of heart failure.<br /><br />Further inpatient evaluation revealed findings concerning for cardiac amyloidosis. Transthoracic echocardiogram showed increased ventricular wall thickness, valvular thickening, effusion, and restrictive diastolic dysfunction. Cardiac MRI demonstrated septal hypertrophy and diffuse non-ischemic fibrosis. Laboratory studies showed markedly elevated light chains, especially lambda free light chains. A myeloma workup, bone marrow biopsy, and nuclear medicine amyloid scan were performed to distinguish AL amyloidosis from multiple myeloma and transthyretin amyloidosis. Ultimately, she was diagnosed with light-chain (AL) cardiac amyloidosis.<br /><br />Her symptoms improved with IV diuresis during hospitalization, but guideline-directed medical therapy for heart failure was not started because of concern for cardiac amyloidosis and its poor tolerance of standard HF medications. After discharge, she was started on chemotherapy, but her disease progressed rapidly. She entered hospice two months later and died shortly afterward.<br /><br />The case highlights several key lessons: avoid anchoring bias when symptoms persist after an initial diagnosis; maintain a high index of suspicion for cardiac amyloidosis in patients with HFpEF and atypical imaging findings; and recognize that early diagnosis is crucial because prognosis and treatment differ greatly from other causes of heart failure. AL amyloidosis carries a particularly poor prognosis, making timely recognition and disease-specific therapy essential.
Asset Subtitle
Tricia Keller
Meta Tag
Author List
Dana Paine, Drew Logan, Tricia Keller
Category
Clinical Vignettes
Concept
Cardiac Amyloidosis
Concept
Heart Failure with Preserved Ejection Fraction
Concept
Heart Failure
Concept
AL Amyloidosis
Concept
Echocardiography
Distinguished
Non-Finalist
Presenter Organization
The Ohio State University Wexner Medical Center, Department of Internal Medicine
Presenting Author
Tricia Keller
Track
Adult
Keywords
cardiac amyloidosis
AL amyloidosis
heart failure
HFpEF
shortness of breath
light chains
lambda free light chains
echocardiogram
cardiac MRI
pleural effusions
Cardiac Amyloidosis
Heart Failure with Preserved Ejection Fraction
Heart Failure
AL Amyloidosis
Echocardiography
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