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. 2025 Feb 15:237:60-64.
doi: 10.1016/j.amjcard.2024.11.019. Epub 2024 Nov 23.

The Impact of Active Ascertainment on Sex-Specific Differences in the Prevalence and Phenotype of Transthyretin Cardiac Amyloidosis: The Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations Study

Nicholas Chan  1 , Andrew J Einstein  2 , Sergio Teruya  1 , Carlos Rodriguez  1 , Stephen Helmke  1 , Margaret Cuomo  1 , Denisse Santana  1 , Michelle Castillo  1 , Dia Smiley  1 , Natalia Sabogal  3 , Sendy Lamour  3 , Morgan Winburn  3 , Denise Fine  3 , Cinthia de Freitas  4 , Cesia Gallegos Kattan  4 , Edward J Miller  4 , Mathew S Maurer  1 , Frederick L Ruberg  5
Affiliations

The Impact of Active Ascertainment on Sex-Specific Differences in the Prevalence and Phenotype of Transthyretin Cardiac Amyloidosis: The Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations Study

Nicholas Chan et al. Am J Cardiol. .

Abstract

Transthyretin cardiac amyloidosis (ATTR-CA) is disproportionately diagnosed in older men. However, studies suggest that the true prevalence of ATTR-CA in women may be greater than previously reported. The Screening for Cardiac Amyloidosis with Nuclear Imaging in Minority Populations (SCAN-MP) study uses nuclear scintigraphy to identify ATTR-CA in self-identified Black and Caribbean Hispanic participants ≥60 years old with heart failure and left ventricular hypertrophy. We characterized the sex distribution and phenotypic characteristics of ATTR-CA in this active ascertainment cohort in comparison with a population of patients with ATTR-CA who were referred to a tertiary care academic center outpatient clinic. The active ascertainment SCAN-MP cohort had a greater proportion of women than did the referral clinic cohort (31.3% vs 13.3%, p = 0.016). This was mainly attributed to the greater proportion of women with wild-type ATTR-CA (27.8% vs 7.1%, p = 0.012). Women with ATTR-CA in the active ascertainment cohort exhibited higher left ventricular ejection fraction than did those in the referral cohort (61% vs 50%, p = 0.011), lower left ventricular mass index (110 vs 148 g/m2, p = 0.014), and smaller posterior wall thickness (1.4 vs 1.6 cm, p = 0.01). An active ascertainment strategy for ATTR-CA identification showed a greater proportion of women than did a referral cohort, driven predominantly by the greater proportion of women with wild-type ATTR-CA, and echocardiographic evidence of a less severe phenotype. In conclusion, efforts for early identification of ATTR-CA in women are critical for reducing sex disparities in this clinically treatable disease.

Keywords: SCAN-MP; sex disparities; transthyretin cardiac amyloidosis; women.

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Conflict of interest statement

Declaration of competing interest Dr. Einstein is supported by National Institutes of Health (NIH) R01 HL139671, and reports receiving a speaker's fee from Ionetix, consulting fees from W. L. Gore & Associates and Artrya, authorship fees from Wolters Kluwer Healthcare—UpToDate, and serving on a scientific advisory board for Canon Medical Systems USA; his institution has grants/grants pending from Attralus, BridgeBio, Canon Medical Systems USA, GE HealthCare, Intellia Therapeutics, Ionis Pharmaceuticals, Neovasc, Pfizer, Roche Medical Systems, and W. L. Gore & Associates. Dr. Miller is a consultant for Eidos, Pfizer, Siemens, Alnylam, and Roivant; and has received grant support from Eidos, Pfizer, and Argospect. Dr. Ruberg is supported by NIH R01 HL139671 and acknowledges institutional research grant support from Akcea/Ionis Therapeutics, Anumana, Alnylam Pharmaceuticals, and Pfizer, and consulting fees from AstraZeneca and Attralus. Dr. Maurer has grant support from NIH R01 HL139671 and R01 AG 081582; consulting income from BridgeBio, Astra Zeneca, Novo Noridisk, Roche, Attralus, Ionis, Alnylam, and Intellia; and institutional support in the form of clinical trial funding from Attralus, Intellia, Pfizer, Alexion, Ionis, Eidos, and Alnylam. The remaining authors have no competing interests to declare.

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