Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation

Stormy C Keppel; Thomas H Brannagan 3rd; Stephen Helmke; Jeffeny De Los Santos; Leidy J Gonzalez; Raisy Fayerman; Sergio Teruya; Mathew S Maurer

doi:10.1016/j.jaccas.2020.08.030

Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation

JACC Case Rep. 2020 Nov 4;2(13):2063-2067. doi: 10.1016/j.jaccas.2020.08.030. eCollection 2020 Nov.

Authors

Stormy C Keppel¹, Thomas H Brannagan 3rd², Stephen Helmke³, Jeffeny De Los Santos³, Leidy J Gonzalez², Raisy Fayerman², Sergio Teruya³, Mathew S Maurer³

Affiliations

¹ CUNY Medical School, The Sophie Davis School of Biomedical Education, New York, New York.
² Peripheral Neuropathy Center, Department of Neurology, Columbia University Irving Medical Center, New York, New York.
³ Cardiac Amyloidosis Program, Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, New York.

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.).

Keywords: ECG, electrocardiogram; TTR, transthyretin; Thr60Ala, alanine for threonine substitution at amino acid 60; amyloidosis; cardiomyopathy; early-onset; hATTR, hereditary transthyretin amyloidosis; hereditary; polyneuropathy; transthyretin.

Publication types

Case Reports