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A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant?
MedLine Citation:
PMID:  23126592     Owner:  NLM     Status:  In-Data-Review    
In this report, we describe the clinical features of a transthyretin (TTR) gene mutation (Asp18Asn) in a 54-year-old Liberian male presenting with congestive heart failure due to amyloid cardiomyopathy, in the absence of neurologic impairment. Review of the literature revealed only two other documented cases of this mutation, neither of whom was described in any detail. Follow-up information on these cases revealed that they were of African origin, as was one other unpublished case. We therefore believe that this is the second TTR mutation associated with isolated cardiac manifestations to be described in patients of African origin. It appears to be far less common than the previously described Val122Ile mutation but onset may be at an earlier age, potentially making heart transplantation a viable option should heart failure become severe.
C Cristina Quarta; Rodney H Falk
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis     Volume:  19     ISSN:  1744-2818     ISO Abbreviation:  Amyloid     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-06     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433802     Medline TA:  Amyloid     Country:  England    
Other Details:
Languages:  eng     Pagination:  204-7     Citation Subset:  IM    
Department of Cardiology, Harvard Vanguard Medical Associates, Brigham and Women's Hospital Cardiac Amyloidosis Program, Harvard Medical School , Boston, Massachusetts , USA.
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