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Introduction <p>Heart failure with preserved ejection fraction (HFpEF) represents a&#xa0;heterogeneous syndrome characterised by various underlying aetiologies, such as transthyretin amyloid cardiomyopathy (ATTR-CM). The aim of this study was to determine the true prevalence of ATTR-CM in a&#xa0;Dutch all-comers cohort of HFpEF patients.</p> Methods <p>From 2018 to 2023, all patients diagnosed with HFpEF underwent prospective screening for ATTR-CM. Diagnosis of ATTR-CM was made in accordance with guideline recommendations.</p> Results <p>Of the 202 HFpEF patients included (mean ± standard deviation age: 76 ± 7&#xa0;years; 64% female), 9&#xa0;(5%) showed cardiac uptake on scintigraphy, of whom 6&#xa0;(3%) were subsequently diagnosed with wild-type ATTR-CM. Left ventricular wall thickness (LVWT) was significantly higher in ATTR-CM patients than non-amyloid HFpEF patients (median interventricular septum diameter: 15 mm; interquartile range (IQR): 11–17 vs 10 mm; IQR: 9–11; <i>p</i> &lt; 0.001). Interestingly, 2&#xa0;ATTR-CM patients (33%) did not have increased LVWT at the time of diagnosis. These&#xa0;2&#xa0;patients were in a&#xa0;less advanced prognostic stage.</p> <i>Conclusion</i> <p>This study revealed a&#xa0;low prevalence of ATTR-CM (3%) in an unselected HFpEF cohort. We identified ATTR-CM patients without increased LVWT (33%), who presented at an earlier disease stage. Hence, relying exclusively on LVWT for the diagnosis of ATTR-CM may result in delayed and/or missed diagnoses.</p>

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Prevalence of transthyretin amyloid cardiomyopathy in an unselected cohort with heart failure with preserved ejection fraction

  • 期刊论文

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  • 发表日期：

    2025年4月28日

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  • Anouk Achten,
  • Vanessa P. M. van Empel,
  • Jerremy Weerts,
  • Sanne Mourmans,
  • Hans-Peter Brunner-La Rocca,
  • Sandra Sanders-van Wijk,
  • Christian Knackstedt

摘要

Introduction

Heart failure with preserved ejection fraction (HFpEF) represents a heterogeneous syndrome characterised by various underlying aetiologies, such as transthyretin amyloid cardiomyopathy (ATTR-CM). The aim of this study was to determine the true prevalence of ATTR-CM in a Dutch all-comers cohort of HFpEF patients.

Methods

From 2018 to 2023, all patients diagnosed with HFpEF underwent prospective screening for ATTR-CM. Diagnosis of ATTR-CM was made in accordance with guideline recommendations.

Results

Of the 202 HFpEF patients included (mean ± standard deviation age: 76 ± 7 years; 64% female), 9 (5%) showed cardiac uptake on scintigraphy, of whom 6 (3%) were subsequently diagnosed with wild-type ATTR-CM. Left ventricular wall thickness (LVWT) was significantly higher in ATTR-CM patients than non-amyloid HFpEF patients (median interventricular septum diameter: 15 mm; interquartile range (IQR): 11–17 vs 10 mm; IQR: 9–11; p < 0.001). Interestingly, 2 ATTR-CM patients (33%) did not have increased LVWT at the time of diagnosis. These 2 patients were in a less advanced prognostic stage.

Conclusion

This study revealed a low prevalence of ATTR-CM (3%) in an unselected HFpEF cohort. We identified ATTR-CM patients without increased LVWT (33%), who presented at an earlier disease stage. Hence, relying exclusively on LVWT for the diagnosis of ATTR-CM may result in delayed and/or missed diagnoses.