Multigene panel analysis has limited additional value compared to transthyretin gene analysis in Dutch patients with suspected cardiac amyloidosis

Milou Berends; Hendrea S A Tingen; Johan Bijzet; Henny H Lemmink; Friso L H Muntinghe; Ewout J Houwerzijl; Peter van der Meer; Riemer H J A Slart; Janet A Gilbertson; Reinold O B Gans; Bouke P C Hazenberg; Hans L A Nienhuis; Paul A van der Zwaag

doi:10.1080/13506129.2025.2469609

Multigene panel analysis has limited additional value compared to transthyretin gene analysis in Dutch patients with suspected cardiac amyloidosis

Amyloid. 2025 Jun;32(2):203-206. doi: 10.1080/13506129.2025.2469609. Epub 2025 Mar 11.

Authors

Milou Berends^{1

2}, Hendrea S A Tingen^{2

3}, Johan Bijzet^{2

4}, Henny H Lemmink^{2

5}, Friso L H Muntinghe^{1

2}, Ewout J Houwerzijl^{1

2}, Peter van der Meer^{2

6}, Riemer H J A Slart^{2

3

7}, Janet A Gilbertson⁸, Reinold O B Gans^{1

2}, Bouke P C Hazenberg^{2

9}, Hans L A Nienhuis^{1

2}, Paul A van der Zwaag^{2

5}

Affiliations

¹ Department of Internal Medicine, University Medical Center Groningen, Groningen, The Netherlands.
² Amyloidosis Center of Expertise, University Medical Center Groningen, Groningen, The Netherlands.
³ Department of Nuclear Medicine and Molecular Imaging, University Medical Center Groningen, Groningen, The Netherlands.
⁴ Department of Laboratory Medicine, University Medical Center Groningen, Groningen, The Netherlands.
⁵ Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
⁶ Department of Cardiology, University Medical Center Groningen, Groningen, The Netherlands.
⁷ Faculty of Science and Technology, Biomedical Photonic Imaging Group, University of Twente, Enschede, The Netherlands.
⁸ Division of Medicine, National Amyloidosis Centre, University College London, Royal Free Hospital London, London, UK.
⁹ Department of Rheumatology & Clinical Immunology, University Medical Center Groningen, Groningen, The Netherlands.

PMID: 40065656
DOI: 10.1080/13506129.2025.2469609

No abstract available

Keywords: Bone scintigraphy; TTR genotyping; cardiac amyloidosis; diagnostic algorithm; hereditary amyloidosis; multigene panel analysis; transthyretin cardiac amyloidosis.