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

Autor:	Thomas H. Brannagan, Jeffeny De Los Santos, Mathew S. Maurer, Leidy J. Gonzalez, Stormy C. Keppel, Sergio Teruya, Raisy Fayerman, Stephen Helmke
Rok vydání:	2020
Předmět:	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
Zdroj:	JACC Case Reports JACC: Case Reports, Vol 2, Iss 13, Pp 2063-2067 (2020)
ISSN:	2666-0849
DOI:	10.1016/j.jaccas.2020.08.030
Popis:	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.)
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce531da4842d1b71f9feeb2c52eead1d https://doi.org/10.1016/j.jaccas.2020.08.030 Zobrazit plný text záznamu