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Sex-specific differences in cardiac transthyretin amyloidosis: addressing the diagnostic gap in women

Title: Sex-specific differences in cardiac transthyretin amyloidosis: addressing the diagnostic gap in women
Authors: Vogel, Julia; Jura, Sophia; Settelmeier, Stephan; Lerchner, Tobias; Buehning, Florian; Yahsaly, Loubna; Carpinteiro, Alexander; Reinhardt, H Christian; Rassaf, Tienush; Michel, Lars
Contributors: Savarese, Gianluigi
Source: European Heart Journal Open ; volume 6, issue 1 ; ISSN 2752-4191
Publisher Information: Oxford University Press (OUP)
Publication Year: 2025
Description: Aims Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure. With a male:female ratio of approximately 10:1, current evidence including diagnostic criteria is largely based on male-dominant collectives. Sex-specific differences may contribute to delayed diagnosis in women. This study investigates these differences in a real-world setting. Methods and results In this retrospective single-centre cohort study, all patients at West German Amyloidosis Center diagnosed with ATTR-CM between 2018 and 2024 were analysed. Clinical, echocardiographic, and laboratory parameters as well as outcomes under transthyretin stabilizer therapy at 6 and 12 months were evaluated. Among 240 patients, 34 (14.2%) were women. Compared to men, women had lower interventricular septal diameter, left ventricular mass, and stroke volume, but higher ejection fraction. Troponin I levels were lower and renal function was worse in women. Diagnostic delay was significantly longer in women (median 750 vs. 86 days, P = 0.022). Despite therapy, sex-specific echocardiographic differences persisted, and functional capacity remained lower in women, although NYHA functional class was comparable. Conclusion Transthyretin amyloid cardiomyopathy presents with persistent sex-specific differences that may contribute to diagnostic delay in women. Current diagnostic thresholds may not adequately reflect female disease patterns, underscoring the need for sex-adapted diagnostic criteria to improve early detection and management.
Document Type: article in journal/newspaper
Language: English
DOI: 10.1093/ehjopen/oeaf175
DOI: 10.1093/ehjopen/oeaf175/66128158/oeaf175.pdf
Availability: https://doi.org/10.1093/ehjopen/oeaf175; https://academic.oup.com/ehjopen/advance-article-pdf/doi/10.1093/ehjopen/oeaf175/66128158/oeaf175.pdf
Rights: https://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.5516F355
Database: BASE