Case Report: Avoiding misdiagnosis in amyloidosis-navigating transthyretin genopositivity and monoclonal gammopathy in a patient with advanced heart failure and spinal stenosis.

ABSTRACT:

Background

A 63-year-old Black woman presented with progressive exertional dyspnea and chronic lower back pain. The course and findings in her case are instructive.

Case report

Family history was notable for cardiac deaths. An echocardiogram demonstrated ventricular wall thickening with diastolic dysfunction. The patient's N-terminal pro b-type natriuretic peptide level was 1,691 pg/ml with a troponin I level of 0.36 ng/ml. Transthyretin (TTR) sequencing detected a heterozygous V122I variant. The patient's free κ light chain level in serum was 664 mg/L with a ratio of 16.5. Bone marrow analysis showed 20%-30% κ-restricted plasma cells with amyloid deposits. A technetium-99m sodium pyrophosphate scan was performed and was negative. Magnetic resonance imaging of the tot

SUBMITTER: Wu X 

PROVIDER: S-EPMC11683122 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature