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<p>Variant transthyretin amyloidosis is a systemic disease. In Sweden, the Val30Met variant is the most prevalent. Val30Met presents in two phenotypes: an early-onset form dominated by polyneuropathy and a late-onset form frequently accompanied by cardiomyopathy. These phenotypes are associated with two amyloid fibril types. Type A fibrils, contain both fragmented and full-length transthyretin, whereas type B fibrils contain only full-length transthyretin. Fibril type has been linked to differences in cardiac tracer uptake on 99mTc-DPD scintigraphy. A total of 152 patients with confirmed variant transthyretin amyloidosis evaluated at Umeå University Hospital, Sweden, were included. Age at disease onset and cardiac involvement, investigated by echocardiography, Troponin-T, and NT-proBNP, were assessed in relation to fibril type in abdominal fat and scintigraphic findings. Eighty-five patients had type A fibrils and sixty-seven had type B fibrils. Type A patients were older at diagnosis and had pathologic scintigraphies and more severe cardiac involvement. A subset of type B patients (15%) exhibited cardiac tracer uptake and had cardiac characteristics and age at disease onset similar to those with type A fibrils. Even though there was a strong correlation with findings in abdominal fat pad biopsies, results from 99mTc-DPD scintigraphy correlated better with clinical phenotype.</p>

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Cardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月16日

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  • Viktor Löfbacka,
  • Jonas Wixner,
  • Per Westermark,
  • Justina Damjanovic Vesterlund,
  • Intissar Anan,
  • Björn Pilebro

摘要

Variant transthyretin amyloidosis is a systemic disease. In Sweden, the Val30Met variant is the most prevalent. Val30Met presents in two phenotypes: an early-onset form dominated by polyneuropathy and a late-onset form frequently accompanied by cardiomyopathy. These phenotypes are associated with two amyloid fibril types. Type A fibrils, contain both fragmented and full-length transthyretin, whereas type B fibrils contain only full-length transthyretin. Fibril type has been linked to differences in cardiac tracer uptake on 99mTc-DPD scintigraphy. A total of 152 patients with confirmed variant transthyretin amyloidosis evaluated at Umeå University Hospital, Sweden, were included. Age at disease onset and cardiac involvement, investigated by echocardiography, Troponin-T, and NT-proBNP, were assessed in relation to fibril type in abdominal fat and scintigraphic findings. Eighty-five patients had type A fibrils and sixty-seven had type B fibrils. Type A patients were older at diagnosis and had pathologic scintigraphies and more severe cardiac involvement. A subset of type B patients (15%) exhibited cardiac tracer uptake and had cardiac characteristics and age at disease onset similar to those with type A fibrils. Even though there was a strong correlation with findings in abdominal fat pad biopsies, results from 99mTc-DPD scintigraphy correlated better with clinical phenotype.