1. Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
- Author
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Thomas H. Brannagan, Jeffeny De Los Santos, Mathew S. Maurer, Leidy J. Gonzalez, Stormy C. Keppel, Sergio Teruya, Raisy Fayerman, and Stephen Helmke
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_specialty ,hATTR, hereditary transthyretin amyloidosis ,macromolecular substances ,Afro-Caribbean ,030105 genetics & heredity ,transthyretin ,03 medical and health sciences ,0302 clinical medicine ,stomatognathic system ,medicine ,Diseases of the circulatory (Cardiovascular) system ,Mini-Focus Issue: Cardiomyopathies and Myocarditis ,Early onset ,amyloidosis ,TTR, transthyretin ,Unusual case ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,Thr60Ala, alanine for threonine substitution at amino acid 60 ,medicine.disease ,Amyloid fibril ,nervous system diseases ,Transthyretin ,RC666-701 ,Mutation (genetic algorithm) ,biology.protein ,early-onset ,ECG, electrocardiogram ,Case Report: Clinical Case ,polyneuropathy ,Cardiology and Cardiovascular Medicine ,business ,cardiomyopathy ,hereditary ,Polyneuropathy ,geographic locations ,030217 neurology & neurosurgery - 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.)
- Published
- 2020