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; Jeffeny De Los Santos, MD; Leidy J. Gonzalez, MD; Raisy Fayerman, MD; Sergio Teruya, MD; Mathew S. Maurer, MD

JACC: Case Reports (Nov 2020)

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,
Jeffeny De Los Santos, MD,
Leidy J. Gonzalez, MD,
Raisy Fayerman, MD,
Sergio Teruya, MD,
Mathew S. Maurer, MD

Affiliations

Stormy C. Keppel, MD: CUNY Medical School, The Sophie Davis School of Biomedical Education, New York, New York
Thomas H. Brannagan, III, MD: Peripheral Neuropathy Center, Department of Neurology, Columbia University Irving Medical Center, New York, New York
Stephen Helmke, RDCS, MPH: Cardiac Amyloidosis Program, Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, New York
Jeffeny De Los Santos, MD: Cardiac Amyloidosis Program, Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, New York
Leidy J. Gonzalez, MD: Peripheral Neuropathy Center, Department of Neurology, Columbia University Irving Medical Center, New York, New York
Raisy Fayerman, MD: Peripheral Neuropathy Center, Department of Neurology, Columbia University Irving Medical Center, New York, New York
Sergio Teruya, MD: Cardiac Amyloidosis Program, Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, New York
Mathew S. Maurer, MD: Cardiac Amyloidosis Program, Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, New York; Address for correspondence: Dr. Mathew S. Maurer, Cardiac Amyloidosis Program, Columbia University Irving Medical Center, 622 West 168th Street, PH12 Stem Room 134, New York, New York 10032.

Journal volume & issue: Vol. 2, no. 13
pp. 2063 – 2067

Abstract

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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.)

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

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Abstract

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