Diagnosis of Cardiac Transthyretin Amyloidosis by
Technetium-99m Pyrophosphate Heart Scan,
Confirmed by Genetic Mutations:
Case Report:
Siwaporn Rattanamanee MD¹, Thanyalak Samphantharat MD¹
Affiliation : ¹ Division of Nuclear Medicine, Department of Radiology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Thailand
Amyloid deposition in the myocardium can cause clinically significant heart failure, which is very difficult to diagnose. The present case reported
presented a patient with heart failure, with suspected cause of cardiac amyloidosis, but abdominal fat pad and endomyocardial with Congo red
stain biopsies were negative. Due to high suspicion of cardiac amyloidosis, a technetium-99m pyrophosphate (Tc-99m PYP) heart scan was done,
which was revealed as strongly suggestive for cardiac transthyretin amyloidosis. So, the patient was sent for genetic testing, and a TTR gene
mutation [c.148G>A (p.Val50Met)] was found.
Received 21 June 2021 | Revised 26 October 2021 | Accepted 3 November 2021
doi.org/10.35755/jmedassocthai.2021.11.13092
Keywords : Cardiac amyloidosis; Endomyocardial biopsy (EMB); Technetium-99m pyrophosphate (Tc-99m PYP) heart scan; Transthyretin amyloidosis (TTR)
