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)

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