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Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population
- Source :
- J Card Fail
- Publication Year :
- 2022
- Publisher :
- Elsevier BV, 2022.
-
Abstract
- The V122I variant in transthyretin (TTR) is the most common amyloidogenic mutation worldwide. The aim of this study is to describe the cardiac phenotype and risk for adverse cardiovascular outcomes of young V122I TTR carriers in the general population.TTR genotypes were extracted from whole-exome sequence data in participants of the Dallas Heart Study. Participants with African ancestry, available V122I TTR genotypes (N = 1818) and either cardiac magnetic resonance imaging (n = 1364) or long-term follow-up (n = 1532) were included. The prevalence of V122I TTR carriers (45 ± 10 years) was 3.2% (n/N = 59/1818). The V122I TTR carriers had higher baseline left ventricular wall thickness (8.52 ± 1.82 vs 8.21 ± 1.62 mm, adjusted P = .038) than noncarriers, but no differences in other cardiac magnetic resonance imaging measures (P.05 for all). Although carrier status was not associated with amino terminal pro-B-type natriuretic peptide (NT-proBNP) at baseline (P = .79), V122I TTR carriers had a greater increase in NT-proBNP on follow-up than noncarriers (median 28.5 pg/mL, interquartile range 11.4-104.1 pg/mL vs median 15.9 pg/mL, interquartile range 0.0-43.0 pg/mL, adjusted P = .018). V122I TTR carriers were at a higher adjusted risk of heart failure (hazard ratio 3.82, 95% confidence interval 1.80-8.13, P.001), cardiovascular death (hazard ratio 2.65, 95% confidence interval 1.14-6.15, P = .023), and all-cause mortality (hazard ratio 1.95, 95% confidence interval 1.08-3.51, P = .026) in comparison with noncarriers.V122I TTR carrier status was associated with a greater increase in NT-proBNP, slightly greater left ventricular wall thickness, and a higher risk for heart failure, cardiovascular death, and all-cause mortality. These findings suggest the need to develop amyloidosis screening strategies for V122I TTR carriers.
- Subjects :
- endocrine system
medicine.medical_specialty
medicine.drug_class
Population
Gastroenterology
Article
Cardiac magnetic resonance imaging
Interquartile range
Internal medicine
medicine
Natriuretic peptide
Humans
Prealbumin
education
Heart Failure
education.field_of_study
medicine.diagnostic_test
biology
business.industry
Amyloidosis
nutritional and metabolic diseases
medicine.disease
Black or African American
Transthyretin
Cardiac amyloidosis
Heart failure
Mutation
biology.protein
Cardiology and Cardiovascular Medicine
business
Subjects
Details
- ISSN :
- 10719164
- Volume :
- 28
- Database :
- OpenAIRE
- Journal :
- Journal of Cardiac Failure
- Accession number :
- edsair.doi.dedup.....6094b98e664ade0000671ffd3a5a678e