Document Detail

Coexistent asymptomatic myeloma and hereditary cardiac amyloidosis: an unusual case of heart failure.
MedLine Citation:
PMID:  22083004     Owner:  NLM     Status:  In-Data-Review    
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.
Lydia Lee; Michael Aziz; Ashutosh Wechalekar; Neil Rabin
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  British journal of hospital medicine (London, England : 2005)     Volume:  72     ISSN:  1750-8460     ISO Abbreviation:  Br J Hosp Med (Lond)     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-11-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101257109     Medline TA:  Br J Hosp Med (Lond)     Country:  England    
Other Details:
Languages:  eng     Pagination:  630-1     Citation Subset:  IM    
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