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Transthyretin Cardiac Amyloidosis

key information

source: Current Cardiology Reports

year: 2017

authors: Anit K. Mankad, Keyur B. Shah

summary/abstract:

Purpose of Review:
Transthyretin (TTR)-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive, hypertrophic heart disease and may go undiagnosed. Transthyretin-derived amyloidosis accounts for 18% of all cases of cardiac amyloidosis. Thus, the study’s purpose is to provide a comprehensive review of transthyretin cardiac amyloidosis.
 
Recent Findings:
Wild-type transthyretin (ATTRwt) protein causes cardiac amyloidosis sporadically, with 25 to 36% of the population older than 80 years of age are at risk to develop a slowly progressive, infiltrative amyloid cardiomyopathy secondary to ATTRwt. In contrast, hereditary amyloidosis (ATTRm) is an autosomal dominant inherited disease associated with more than 100 point mutations in the transthyretin gene and has a tendency to affect the heart and nervous system. Up to 4% of African-Americans carry the Val122Ile mutation in the transthyretin gene, the most prevalent cause of hereditary cardiac amyloidosis in the USA.
 
Summary:

Identifying transthyretin cardiac amyloidosis requires increased awareness of the prevalence, signs and symptoms, and diagnostic tools available for discrimination of this progressive form of cardiomyopathy associated with left ventricular hypertrophy. While there are no FDA-approved medical treatments, investigation is underway on agents to reduce circulating mutated transthyretin.

organization: Hunter Holmes McGuire Veterans Affairs Medical Center, USA; Virginia Commonwealth University, USA

DOI: 10.1007/s11886-017-0911-5

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