ArticleFrontiers in cardiovascular medicine2024
Case Report: Avoiding misdiagnosis in amyloidosis-navigating transthyretin genopositivity and monoclonal gammopathy in a patient with advanced heart failure and spinal stenosis.
Article in Frontiers in cardiovascular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Systemic amyloid light-chain amyloidosis beyond ANDROMEDA: Diagnostic challenges and therapeutic updates.CA: a cancer journal for cliniciansReview
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13 authors.
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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 Conclusion: In patients with amyloidosis who have both monoclonal gammopathy and a TTR variant, it is imperative to discern the tissue type of the amyloid to deduce the correct diagnosis. ATTR and AL amyloidosis can both cause spinal stenosis with minimal degenerative changes. The LF tissue must be stained for amyloids and, if present, typing must be performed.
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