TY - JOUR
T1 - Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis
T2 - Insights From THAOS
AU - THAOS Investigators
AU - Caponetti, Angelo Giuseppe
AU - Rapezzi, Claudio
AU - Gagliardi, Christian
AU - Milandri, Agnese
AU - Dispenzieri, Angela
AU - Kristen, Arnt V.
AU - Wixner, Jonas
AU - Maurer, Mathew S.
AU - Garcia-Pavia, Pablo
AU - Tournev, Ivailo
AU - Planté-Bordeneuve, Violaine
AU - Chapman, Douglass
AU - Amass, Leslie
AU - van Cleemput, Johan
AU - Waddington-Cruz, Marcia
AU - Schmidt, Hartmut
AU - Dillmann, Klaus Ulrich
AU - Mølgaard, Henning
AU - Moreno, Juan Gonzalez
AU - Costello, Jose Gonzalez
AU - Beamud, Francisco Munoz
AU - Davila, Lucia Galan
AU - Adams, David
AU - Inamo, Jocelyn
AU - Lairez, Olivier
AU - Vita, Giuseppe
AU - Merlini, Giampaolo
AU - Cirami, Calogero Lino
AU - Luigetti, Marco
AU - Emdin, Michele
AU - Sekijima, Yoshiki
AU - Jeon, Eun Seok
AU - Oh, Jeeyoung
AU - Gonzalez Duarte Briseno, Maria Alejandra
AU - Nienhuis, Hans
AU - Coelho, Teresa
AU - Conceicao, Isabel
AU - Azevedo, Olga
AU - Badelita, Sorina
AU - Press, Rayomand
AU - Parman, Yesim
AU - Shah, Sanjiv
AU - Quan, Dianna
AU - Marburger, Tessa
AU - Polydefkis, Michael
AU - Witteles, Ronald
AU - Gottlieb, Stephen
AU - Sarswat, Nitasha
AU - Drachman, Brian
AU - Tauras, James
N1 - Publisher Copyright:
© 2021 The Authors
PY - 2021/10
Y1 - 2021/10
N2 - Objectives: Because patients with ATTRv cardiomyopathy are more likely to be male, this analysis aimed to increase information on associations between sex and genotype, phenotype, and degree of myocardial involvement in ATTRv amyloidosis. Background: Transthyretin amyloid cardiomyopathy is a progressive, fatal disease that occurs due to accumulation of wild-type or variant (ATTRv) transthyretin amyloid fibrils in the myocardium. Methods: The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing global longitudinal observational survey of patients with ATTR amyloidosis and asymptomatic carriers with TTR mutations. Data from THAOS (data cutoff: January 6, 2020) were analyzed to determine any sex-based differences in genotype, phenotype, and presence of cardiac and neurological symptoms in patients with ATTRv amyloidosis and in patients with ATTRv amyloidosis and cardiomyopathy. Results: There were 2,790 patients with ATTRv amyloidosis enrolled in THAOS, with male patients more likely to have symptoms of cardiac involvement and a cardiac phenotype. Male prevalence was greater in patients with more severe cardiac manifestations of disease, as assessed with N-terminal pro–B-type natriuretic peptide, left-ventricular (LV) ejection fraction, mean LV wall thickness divided by height, and LV mass index divided by height. Sex, age at disease onset, and genotype category were identified by multivariate analyses as risk factors for the development of cardiomyopathy (defined as increased LV septum thickness divided by height). Conclusions: In this analysis, myocardial involvement was more frequent and pronounced in male patients with ATTRv amyloidosis, suggesting that there may be biological characteristics that inhibit myocardial amyloid infiltration in females or facilitate it in males.
AB - Objectives: Because patients with ATTRv cardiomyopathy are more likely to be male, this analysis aimed to increase information on associations between sex and genotype, phenotype, and degree of myocardial involvement in ATTRv amyloidosis. Background: Transthyretin amyloid cardiomyopathy is a progressive, fatal disease that occurs due to accumulation of wild-type or variant (ATTRv) transthyretin amyloid fibrils in the myocardium. Methods: The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing global longitudinal observational survey of patients with ATTR amyloidosis and asymptomatic carriers with TTR mutations. Data from THAOS (data cutoff: January 6, 2020) were analyzed to determine any sex-based differences in genotype, phenotype, and presence of cardiac and neurological symptoms in patients with ATTRv amyloidosis and in patients with ATTRv amyloidosis and cardiomyopathy. Results: There were 2,790 patients with ATTRv amyloidosis enrolled in THAOS, with male patients more likely to have symptoms of cardiac involvement and a cardiac phenotype. Male prevalence was greater in patients with more severe cardiac manifestations of disease, as assessed with N-terminal pro–B-type natriuretic peptide, left-ventricular (LV) ejection fraction, mean LV wall thickness divided by height, and LV mass index divided by height. Sex, age at disease onset, and genotype category were identified by multivariate analyses as risk factors for the development of cardiomyopathy (defined as increased LV septum thickness divided by height). Conclusions: In this analysis, myocardial involvement was more frequent and pronounced in male patients with ATTRv amyloidosis, suggesting that there may be biological characteristics that inhibit myocardial amyloid infiltration in females or facilitate it in males.
KW - ATTRv amyloidosis
KW - myocardial involvement
KW - registry
KW - sex
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U2 - 10.1016/j.jchf.2021.05.005
DO - 10.1016/j.jchf.2021.05.005
M3 - Article
C2 - 34391735
AN - SCOPUS:85115175807
SN - 2213-1779
VL - 9
SP - 736
EP - 746
JO - JACC: Heart Failure
JF - JACC: Heart Failure
IS - 10
ER -