Negative methylene diphosphonate scintigraphy in biopsy-confirmed hereditary transthyretin Ala117Ser cardiac amyloidosis: a case report

Author:

Wu Zejia1,Xia Shuang1,Ma Dunliang1,Li Liwen1

Affiliation:

1. Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.

Abstract

99mTc-pyrophosphate (99mTc-PYP) scintigraphy is highly sensitive and specific for the diagnosis of transthyretin cardiac amyloidosis (ATTR-CA). Commonly used alternative tracers included 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) and 99mTc-hydroxymethylene diphosphonate (99mTc-HMDP). A 61-year-old Chinese man presented with signs indicative of left ventricular hypertrophy. Genetic testing revealed heterozygous transthyretin Ala117Ser mutation. Scintigraphy using 99mTc-methylene diphosphonate failed to show myocardial uptake. Five months later, the patient underwent permanent pacemaker implantation. Tafamidis was used irregularly, and the patient died 2 years later. 99mTc-methylene diphosphonate may not be appropriate for diagnostic use in ATTR-CA patient with transthyretin Ala117Ser mutation.

Funder

Xinxin Cardiovascular Health Foundation of Suzhou Industrial Park

Guangdong Provincial Key Laboratory of Coronary Heart Disease Prevention

Guangdong Provincial Key Laboratory of Coronary Artery Disease Prevention Fund

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine

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