Author + information
- Mathew S. Maurer,
- Violaine Planté-Bordeneuve,
- Teresa Coelho,
- Rajiv Mundayat,
- Onur Karayal and
- Claudio Rapezzi
Transthyretin (TTR) amyloidosis is a genotype- and phenotype-heterogeneous disease. We describe TTR amyloidosis phenotypes in the global Transthyretin Amyloidosis Survey (THAOS)patient registry.
Symptomatic patients were categorized into one of three phenotypes: (a) Cardiac: those with heart failure, dyspnea or cardiac rhythm disturbance and minimal or no neurologic or gastrointestinal (GI) symptoms; (b) Neurologic: those with neurologic symptoms, including walking disability, or GI symptoms of any severity; (c) Mixed: those not meeting either cardiac or neurologic criteria. Characteristics of each group were examined.
The cardiac group (n=188) was the oldest at age of disease onset (mean ± standard deviation 61.5 ± 14.3 years; neurologic, n=561, 44.7 ± 14.3 years; mixed, n=256, 58.4 ± 15.5 years). The most common genotypes within the cardiac phenotype were wild-type (WT; 44.1%), V122I (30.5%) and V30M (28.6%). Most neurologic patients had the V30M mutation (82.6%). Common mutations among mixed patients were V30M (59.8%), WT (10.5%) and V122I (7.9%). Kaplan-Meier curves show better survival for patients without cardiac involvement (Figure; cardiac vs. neurologic P<0.001; mixed vs. neurologic P<0.001).
Cardiac involvement with or without neurologic involvement is associated with reduced survival in a large cohort with TTR amyloidosis. Data for this abstract are derived from the THAOS registry, which is sponsored by Pfizer Inc.
Poster Sessions, Expo North
Saturday, March 09, 2013, 3:45 p.m.-4:30 p.m.
Session Title: What Is Unfolding in Cardiac Amyloidosis Research?
Abstract Category: 23. Pericardial/Myocardial Disease
Presentation Number: 1163-148
- 2013 American College of Cardiology Foundation