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Updated: May 29, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Artificial intelligence-based cardiac transthyretin amyloidosis detection and scoring in scintigraphy imaging:
Yazdan Salimi1, Isaac Shiri2, Zahra Mansouri1
1Division of Nuclear Medicine and Molecular Imaging, Geneva University Hospital, Geneva, CH-1211, Switzerland.
Introduction:
Providing tools for comprehensively evaluating scintigraphy images could enhance transthyretin amyloid cardiomyopathy (ATTR-CM) diagnosis. This study aims to automatically detect and score ATTR-CM in total body scintigraphy images using deep learning on multi-tracer, multi-scanner, and multi-center datasets.
Methods:
In the current study, we employed six datasets (from 12 cameras) for various tasks and purposes. Dataset #1 (93 patients, 99mTc-MDP) was used to develop the 2D-planar segmentation and localization models. Dataset #2 (216 patients, 99mTc-DPD) was used for the detection (grade 0 vs. grades 1, 2, and 3) and scoring (0 and 1 vs. grades 2 and 3) of ATTR-CM. Datasets #3 (41 patients, 99mTc-HDP), #4 (53 patients, 99mTc-PYP), and #5 (129 patients, 99mTc-DPD) were used as external centers. ATTR-CM detection and scouring were performed by two physicians in each center. Moreover, Dataset #6 consisting of 3215 patients without labels, was employed for retrospective model performance evaluation. Different regions of interest were cropped and fed into the classification model for the detection and scoring of ATTR-CM. Ensembling was performed on the outputs of different models to improve their performance. Model performance was measured by classification accuracy, sensitivity, specificity, and AUC. Grad-CAM and saliency maps were generated to explain the models' decision-making process.
Results:
In the internal test set, all models for detection and scoring achieved an AUC of more than 0.95 and an F1 score of more than 0.90. For detection in the external dataset, AUCs of 0.93, 0.95, and 1 were achieved for datasets 3, 4, and 5, respectively. For the scoring task, AUCs of 0.95, 0.83, and 0.96 were achieved for these datasets, respectively. In dataset #6, we found ten cases flagged as ATTR-CM by the network. Out of these, four cases were confirmed by a nuclear medicine specialist as possibly having ATTR-CM. GradCam and saliency maps showed that the deep-learning models focused on clinically relevant cardiac areas.
Conclusion:
In the current study, we developed and evaluated a fully automated pipeline to detect and score ATTR-CM using large multi-tracer, multi-scanner, and multi-center datasets, achieving high performance on total body images. This fully automated pipeline could lead to more timely and accurate diagnoses, ultimately improving patient outcomes.
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