Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
Stormy C. Keppel, MD, Thomas H. Brannagan, III, MD, Stephen Helmke, RDCS, MPH and 5 more
JACC: Case Reports · 2020
doi:10.1016/j.jaccas.2020.08.030 (opens in a new tab)
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Abstract
Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fat pad biopsy. (Level of Difficulty: Intermediate.)
Abstract licence: CC BY-NC-ND
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