What is it about?

We identified the first case of hereditary CA with a Pro24Ser TTR mutation in Japan using technetium pyrophosphate scintigraphy.

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Why is it important?

Transthyretin Cardiac Amyloidosis (ATTR‐CA) demonstrates infiltrative cardiomyopathy caused by extracellular deposition of insoluble transthyretin amyloid fibrils in the myocardium. ATTR-CA is progressive and life‐threatening if left untreated, and thus, early diagnosis is critical. However, the development of a proper strategy to reach the correct diagnosis and treatment of ATTR-CM has been long overdue. Herein, we propose that 99mTc-PYP scintigraphy is extremely useful even for an exploratory diagnosis of ATTR-CA.

Perspectives

We will be able to identify ATTR-CA even if isolated cases.

Chief Director Hiroyuki Yamamoto
Narita-Tomisato Tokusyukai Hospital

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This page is a summary of: Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report, Journal of Medical Case Reports, December 2018, Springer Science + Business Media, DOI: 10.1186/s13256-018-1931-5.
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