title: A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant?
abstract: 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 Follow-up information on these cases revealed that they were of African origin, as was one other unpublished case.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.
authors.affiliation: Department of Cardiology, Harvard Vanguard Medical Associates, Brigham and Women's Hospital Cardiac Amyloidosis Program, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: C Cristina
authors.initials: CC
authors.lastname: Quarta
authors.forename: Rodney H
authors.initials: RH
authors.lastname: Falk
mesh_terms: D000686:Amyloidosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006333:Heart Failure / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin