- •The prevalence of the V122I transthyretin (TTR) variant in individuals with African ancestry is 3.2%.
- •In mid-life, carriers of the V122I TTR have subtle cardiac structural differences in comparison with noncarriers.
- •Over time, carriers of V122I have a greater increase in amino terminal pro-B-type natriuretic peptide in comparison with noncarriers.
- •In comparison with noncarriers, carriers of the V122I TTR are at a higher long-term risk of heart failure and death
Methods and Results
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- Natural history, quality of life, and outcome in cardiac transthyretin amyloidosis.Circulation. 2019; 140: 16-26
- Investigators A-AS. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy.N Engl J Med. 2018; 379: 1007-1016
- Transthyretin stabilization by AG10 in symptomatic transthyretin amyloid cardiomyopathy.J Am Coll Cardiol. 2019; 74: 285-295
- (99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses.Circ Cardiovasc Imaging. 2013; 6: 195-201
- Role of cardiac magnetic resonance imaging in the detection of cardiac amyloidosis.JACC Cardiovasc Imaging. 2010; 3: 155-164
- The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.Proc Natl Acad Sci U S A. 2001; 98: 14943-14948
- Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey).J Am Coll Cardiol. 2016; 68: 161-172
- The amyloidogenic V122I transthyretin variant in elderly black Americans.N Engl J Med. 2015; 372: 21-29
- Association of the V122I hereditary transthyretin amyloidosis genetic variant with heart failure among individuals of African or Hispanic/Latino ancestry.JAMA. 2019; 322: 2191-2202
- Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.Hum Mol Genet. 2005; 14: 543-553
- ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: part 1 of 2-evidence base and standardized methods of imaging.J Card Fail. 2019; 25: e1-e39
- Association of concentric left ventricular hypertrophy with subsequent change in left ventricular end-diastolic volume: the Dallas Heart Study.Circ Heart Fail. 2017; 10
- Left ventricular hypertrophy is more prevalent in blacks than whites in the general population: the Dallas Heart Study.Hypertension. 2005; 46: 124-129
- Association between reduced myocardial contraction fraction and cardiovascular disease outcomes: the Multi-Ethnic Study of Atherosclerosis.Int J Cardiol. 2019; 293: 10-16
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Science. 2016; 354
- Second-generation PLINK: rising to the challenge of larger and richer datasets.Gigascience. 2015; 4: 7
- Screening the population for left ventricular hypertrophy and left ventricular systolic dysfunction using natriuretic peptides: results from the Dallas Heart Study.Am Heart J. 2009; 157 (e2): 746-753
- Association of serial measures of cardiac troponin T using a sensitive assay with incident heart failure and cardiovascular mortality in older adults.JAMA. 2010; 304: 2494-2502
- Multimodality strategy for cardiovascular risk assessment: performance in 2 population-based cohorts.Circulation. 2017; 135: 2119-2132
- Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.Amyloid. 2015; 22: 171-174
- Association of the V122I transthyretin amyloidosis genetic variant with cardiac structure and function in middle-aged Black adults: Coronary Artery Risk Development in Young Adults (CARDIA) Study.JAMA Cardiol. 2020; 6: 1-5
- Nonbiopsy diagnosis of cardiac transthyretin amyloidosis.Circulation. 2016; 133: 2404-2412
- A new staging system for cardiac transthyretin amyloidosis.Eur Heart J. 2018; 39: 2799-2806
- Impact of genotype and phenotype on cardiac biomarkers in patients with transthyretin amyloidosis - report from the Transthyretin Amyloidosis Outcome Survey (THAOS).PLoS One. 2017; 12e0173086
- Are classic predictors of voltage valid in cardiac amyloidosis? A contemporary analysis of electrocardiographic findings.Int J Cardiol. 2016; 214: 477-481
- Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system.J Am Coll Cardiol. 2016; 68: 1014-1020