Article
A transthyretin variant, Asp18Asn, associated with amyloid cardiomyopathy: a new African-American variant?
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2012
Quarta C Cristina, Falk Rodney H
Abstract excerpt
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...
Topics
- Amyloidosis
- Cardiomyopathies
- Heart Failure
- Humans
- Male
- Middle Aged
- Mutation
- Prealbumin