Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: The Transthyretin Amyloidosis Cardiac Study (TRACS)

Frederick L. Ruberg, Mathew S. Maurer, Daniel P. Judge, Steven Zeldenrust, Martha Skinner, Antony Y. Kim, Rodney H. Falk, Kin N. Cheung, Ayan R. Patel, Arian Pano, Jeffrey Packman, Donna Roy Grogan

Research output: Contribution to journalArticle

Abstract

Background TRACS sought to describe the clinical outcomes and disease progression of transthyretin (TTR) cardiac amyloidosis (ATTR) in an observational study. Clinical course is largely determined by disease type with ATTR categorized as wild-type (ATTRwt) or genetic-variant protein (ATTRm). Prospective data are lacking in the most common TTR mutation, V122I, present in approximately 3.5% of African Americans. Methods Patients with ATTRwt (n = 18) and V122I ATTRm (n = 11) were longitudinally assessed every 6 months for up to 2 years by functional class assessments, biochemical markers, and echocardiography. Results At baseline, no differences in clinical characteristics, biomarkers, or echocardiographic parameters were noted between patients with ATTRwt and patients with ATTRm. After 15.5 ± 8 months, there were 11 deaths and 1 cardiac transplant, with higher mortality (73% vs 22%, P = .03) and cardiovascular hospitalization (64% vs 28%, P = .02) among patients with ATTRm. The median survival from diagno is was 25.6 months for ATTRm vs 43.0 months for ATTRwt (P = .04). nivariate predictors of mortality included disease duration, heart rate ≤70 beats/min, baseline stroke volume, left ventricular ejection fraction b50%, and ATTRm status. For each 6-month increment, the mean 6-minute walk distance declined by 25.8 m, N-terminal pro b-type natriuretic peptide increased by 1,816 pg/mL, and left ventricular ejection fraction fell by 3.2%, for the entire cohort. Conclusions In this prospective study, disease progression, morbidity, and mortality were observed in ATTR cardiomyopathy, particularly due to V122I, over a short duration. Given the prevalence of this mutation, further study of V122I in at-risk African American patients is warranted. (Am Heart J 2012;164:222-228.e1.)

Original languageEnglish (US)
JournalAmerican Heart Journal
Volume164
Issue number2
DOIs
StatePublished - Aug 2012

Fingerprint

Prealbumin
Cardiomyopathies
Amyloid
Morbidity
Mortality
Stroke Volume
African Americans
Disease Progression
Biomarkers
Natriuretic Peptides
Mutation
Observational Studies
Echocardiography
Hospitalization
Heart Rate
Amyloidosis, Hereditary, Transthyretin-Related
Prospective Studies
Transplants
Survival
Proteins

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy : The Transthyretin Amyloidosis Cardiac Study (TRACS). / Ruberg, Frederick L.; Maurer, Mathew S.; Judge, Daniel P.; Zeldenrust, Steven; Skinner, Martha; Kim, Antony Y.; Falk, Rodney H.; Cheung, Kin N.; Patel, Ayan R.; Pano, Arian; Packman, Jeffrey; Grogan, Donna Roy.

In: American Heart Journal, Vol. 164, No. 2, 08.2012.

Research output: Contribution to journalArticle

Ruberg, FL, Maurer, MS, Judge, DP, Zeldenrust, S, Skinner, M, Kim, AY, Falk, RH, Cheung, KN, Patel, AR, Pano, A, Packman, J & Grogan, DR 2012, 'Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: The Transthyretin Amyloidosis Cardiac Study (TRACS)', American Heart Journal, vol. 164, no. 2. https://doi.org/10.1016/j.ahj.2012.04.015
Ruberg, Frederick L. ; Maurer, Mathew S. ; Judge, Daniel P. ; Zeldenrust, Steven ; Skinner, Martha ; Kim, Antony Y. ; Falk, Rodney H. ; Cheung, Kin N. ; Patel, Ayan R. ; Pano, Arian ; Packman, Jeffrey ; Grogan, Donna Roy. / Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy : The Transthyretin Amyloidosis Cardiac Study (TRACS). In: American Heart Journal. 2012 ; Vol. 164, No. 2.
@article{c0687a6af089426d8c140144320b4fe6,
title = "Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: The Transthyretin Amyloidosis Cardiac Study (TRACS)",
abstract = "Background TRACS sought to describe the clinical outcomes and disease progression of transthyretin (TTR) cardiac amyloidosis (ATTR) in an observational study. Clinical course is largely determined by disease type with ATTR categorized as wild-type (ATTRwt) or genetic-variant protein (ATTRm). Prospective data are lacking in the most common TTR mutation, V122I, present in approximately 3.5{\%} of African Americans. Methods Patients with ATTRwt (n = 18) and V122I ATTRm (n = 11) were longitudinally assessed every 6 months for up to 2 years by functional class assessments, biochemical markers, and echocardiography. Results At baseline, no differences in clinical characteristics, biomarkers, or echocardiographic parameters were noted between patients with ATTRwt and patients with ATTRm. After 15.5 ± 8 months, there were 11 deaths and 1 cardiac transplant, with higher mortality (73{\%} vs 22{\%}, P = .03) and cardiovascular hospitalization (64{\%} vs 28{\%}, P = .02) among patients with ATTRm. The median survival from diagno is was 25.6 months for ATTRm vs 43.0 months for ATTRwt (P = .04). nivariate predictors of mortality included disease duration, heart rate ≤70 beats/min, baseline stroke volume, left ventricular ejection fraction b50{\%}, and ATTRm status. For each 6-month increment, the mean 6-minute walk distance declined by 25.8 m, N-terminal pro b-type natriuretic peptide increased by 1,816 pg/mL, and left ventricular ejection fraction fell by 3.2{\%}, for the entire cohort. Conclusions In this prospective study, disease progression, morbidity, and mortality were observed in ATTR cardiomyopathy, particularly due to V122I, over a short duration. Given the prevalence of this mutation, further study of V122I in at-risk African American patients is warranted. (Am Heart J 2012;164:222-228.e1.)",
author = "Ruberg, {Frederick L.} and Maurer, {Mathew S.} and Judge, {Daniel P.} and Steven Zeldenrust and Martha Skinner and Kim, {Antony Y.} and Falk, {Rodney H.} and Cheung, {Kin N.} and Patel, {Ayan R.} and Arian Pano and Jeffrey Packman and Grogan, {Donna Roy}",
year = "2012",
month = "8",
doi = "10.1016/j.ahj.2012.04.015",
language = "English (US)",
volume = "164",
journal = "American Heart Journal",
issn = "0002-8703",
publisher = "Mosby Inc.",
number = "2",

}

TY - JOUR

T1 - Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy

T2 - The Transthyretin Amyloidosis Cardiac Study (TRACS)

AU - Ruberg, Frederick L.

AU - Maurer, Mathew S.

AU - Judge, Daniel P.

AU - Zeldenrust, Steven

AU - Skinner, Martha

AU - Kim, Antony Y.

AU - Falk, Rodney H.

AU - Cheung, Kin N.

AU - Patel, Ayan R.

AU - Pano, Arian

AU - Packman, Jeffrey

AU - Grogan, Donna Roy

PY - 2012/8

Y1 - 2012/8

N2 - Background TRACS sought to describe the clinical outcomes and disease progression of transthyretin (TTR) cardiac amyloidosis (ATTR) in an observational study. Clinical course is largely determined by disease type with ATTR categorized as wild-type (ATTRwt) or genetic-variant protein (ATTRm). Prospective data are lacking in the most common TTR mutation, V122I, present in approximately 3.5% of African Americans. Methods Patients with ATTRwt (n = 18) and V122I ATTRm (n = 11) were longitudinally assessed every 6 months for up to 2 years by functional class assessments, biochemical markers, and echocardiography. Results At baseline, no differences in clinical characteristics, biomarkers, or echocardiographic parameters were noted between patients with ATTRwt and patients with ATTRm. After 15.5 ± 8 months, there were 11 deaths and 1 cardiac transplant, with higher mortality (73% vs 22%, P = .03) and cardiovascular hospitalization (64% vs 28%, P = .02) among patients with ATTRm. The median survival from diagno is was 25.6 months for ATTRm vs 43.0 months for ATTRwt (P = .04). nivariate predictors of mortality included disease duration, heart rate ≤70 beats/min, baseline stroke volume, left ventricular ejection fraction b50%, and ATTRm status. For each 6-month increment, the mean 6-minute walk distance declined by 25.8 m, N-terminal pro b-type natriuretic peptide increased by 1,816 pg/mL, and left ventricular ejection fraction fell by 3.2%, for the entire cohort. Conclusions In this prospective study, disease progression, morbidity, and mortality were observed in ATTR cardiomyopathy, particularly due to V122I, over a short duration. Given the prevalence of this mutation, further study of V122I in at-risk African American patients is warranted. (Am Heart J 2012;164:222-228.e1.)

AB - Background TRACS sought to describe the clinical outcomes and disease progression of transthyretin (TTR) cardiac amyloidosis (ATTR) in an observational study. Clinical course is largely determined by disease type with ATTR categorized as wild-type (ATTRwt) or genetic-variant protein (ATTRm). Prospective data are lacking in the most common TTR mutation, V122I, present in approximately 3.5% of African Americans. Methods Patients with ATTRwt (n = 18) and V122I ATTRm (n = 11) were longitudinally assessed every 6 months for up to 2 years by functional class assessments, biochemical markers, and echocardiography. Results At baseline, no differences in clinical characteristics, biomarkers, or echocardiographic parameters were noted between patients with ATTRwt and patients with ATTRm. After 15.5 ± 8 months, there were 11 deaths and 1 cardiac transplant, with higher mortality (73% vs 22%, P = .03) and cardiovascular hospitalization (64% vs 28%, P = .02) among patients with ATTRm. The median survival from diagno is was 25.6 months for ATTRm vs 43.0 months for ATTRwt (P = .04). nivariate predictors of mortality included disease duration, heart rate ≤70 beats/min, baseline stroke volume, left ventricular ejection fraction b50%, and ATTRm status. For each 6-month increment, the mean 6-minute walk distance declined by 25.8 m, N-terminal pro b-type natriuretic peptide increased by 1,816 pg/mL, and left ventricular ejection fraction fell by 3.2%, for the entire cohort. Conclusions In this prospective study, disease progression, morbidity, and mortality were observed in ATTR cardiomyopathy, particularly due to V122I, over a short duration. Given the prevalence of this mutation, further study of V122I in at-risk African American patients is warranted. (Am Heart J 2012;164:222-228.e1.)

UR - http://www.scopus.com/inward/record.url?scp=84864674714&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84864674714&partnerID=8YFLogxK

U2 - 10.1016/j.ahj.2012.04.015

DO - 10.1016/j.ahj.2012.04.015

M3 - Article

C2 - 22877808

AN - SCOPUS:84864674714

VL - 164

JO - American Heart Journal

JF - American Heart Journal

SN - 0002-8703

IS - 2

ER -