DISCOVERY: a study examining the prevalence of transthyretin mutations in subjects suspected of having cardiac amyloidosis

Olakunle Akinboboye,Herman A Taylor,Verena Karsten,Amir Malik,Karthik Ananthasubramaniam,Mathew S Maurer,Thibaud Damy,Alberta Warner

doi:10.1186/1750-1172-10-s1-o8

Abstract

Background Cardiac amyloidosis (CA) is caused by extracellular myocardial deposition of either immunoglobulin light-chain (AL) or transthyretin (ATTR) fibrils. Two forms of ATTR CA cause life-threatening cardiomyopathy: an inherited form arising from misfolding of mutated ATTR (familial amyloid cardiomyopathy [FAC]) and a sporadic form caused by wild-type ATTR (senile systemic amyloidosis [SSA]). More than half of over 100 reported ATTR mutations are associated with FAC. The most common mutation in the US is Val122Ile found in 3-4% of African Americans (AA). FAC can be difficult to recognize clinically and is likely under diagnosed. The DISCOVERY study aims to determine the prevalence of TTR mutations and FAC diagnosis in a cohort of patients (pts) with clinical features suggestive of CA.

Highlights

Cardiac amyloidosis (CA) is caused by extracellular myocardial deposition of either immunoglobulin light-chain (AL) or transthyretin (ATTR) fibrils
Heart failure signs and symptoms and intraventricular septal thickness (IVS) > 12 mm was reported in 71% and 79% of Val122IIle pts respectively
A total of 14 (10%) pts had a Val122Ile mutation and 1 pt had a novel mutation Arg103His

Summary

Open Access

DISCOVERY: a study examining the prevalence of transthyretin mutations in subjects suspected of having cardiac amyloidosis. Olakunle Akinboboye1*, Karthik Ananthasubramaniam, Amir Malik, Alberta Warner, Verena Karsten, Thibaud Damy, Herman A Taylor, Mathew S Maurer. From First European Congress on Hereditary ATTR amyloidosis Paris, France. From First European Congress on Hereditary ATTR amyloidosis Paris, France. 2-3 November 2015

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