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Coexistent asymptomatic myeloma and hereditary cardiac amyloidosis: an unusual case of heart failure. (Record no. 75372)

MARC details
000 -LEADER
fixed length control field 01654cam a2200217 4500
001 - CONTROL NUMBER
control field NMDX5855
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 120401t2011 xxu||||| |||| 00| 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 17508460
100 ## - MAIN ENTRY--PERSONAL NAME
Personal name Lee, L.
240 ## - UNIFORM TITLE
Uniform title <a href="British Journal of Hospital Medicine">British Journal of Hospital Medicine</a>
245 ## - TITLE STATEMENT
Title Coexistent asymptomatic myeloma and hereditary cardiac amyloidosis: an unusual case of heart failure.
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT)
Date of publication, distribution, etc. 2011
500 ## - GENERAL NOTE
General note NMUH Staff Publications
500 ## - GENERAL NOTE
General note 72
520 ## - SUMMARY, ETC.
Summary, etc. A 76-year-old Afro-Caribbean man presenting with heart failure was diagnosed with isolated cardiac amyloid. He had evidence of myeloma on bone marrow biopsy suggesting AL amyloid, the commonest type of systemic amyloidosis, as the underlying cause. He had no other myeloma-related organ damage. However, endocardial biopsy revealed amyloid fibrils composed of transthyretin and genetic typing established heterozygozity for the valine to isoleucine mutation at position 122 (Val122Ile). The diagnosis was therefore hereditary systemic amyloidosis as a result of a genetic transthyretin variant (ATTR) causing cardiac amyloidosis and coexistent asymptomatic myeloma. This requires symptomatic treatment of heart failure only. This article discusses a rare cause of heart failure and uses this case to illustrate that histological confirmation of the amyloid-causing protein is essential. Mistaken assumption of AL amyloid could have resulted in inappropriate cytotoxic therapy targeting the plasma cell clone.
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Aziz, M.
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Wechalekar, A.
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Rabin, N.
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://www.ncbi.nlm.nih.gov/pubmed/22083004">https://www.ncbi.nlm.nih.gov/pubmed/22083004</a>
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="http://ferriman.wufoo.com/forms/r7x3a7/">http://ferriman.wufoo.com/forms/r7x3a7/</a>
Holdings
Withdrawn status Lost status Damaged status Not for loan Collection code Home library Current library Shelving location Date acquired Total Checkouts Date last seen Price effective from Koha item type
        Staff publications for NMDX Ferriman information and Library Service (North Middlesex) Ferriman information and Library Service (North Middlesex) Online 07/06/2022   07/06/2022 07/06/2022 UNKNOWN
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