Research Article

A Deep Learning Approach to Classify Fabry Cardiomyopathy from Hypertrophic Cardiomyopathy Using Cine Imaging on Cardiac Magnetic Resonance

Table 5

Comparison of deep learning approaches for cardiac disease diagnosis.

FeatureMadani et al. [36]Zhou et al. [37]Germain et al. [38]MSLVHC (our approach)

Data sourcesEchocardiography images, 2,269 imagesCardiac cine images, 198 imagesCine-CMR images, 241 imagesMRI SAX view cine images, 214 images
PatientsNot specifiedHCM: 198 (genotype (+): 98, genotype (−): 100)Cardiac amyloidosis: 119, LVH of other origins: 122Fabry: 156 HCM: 59
ImagesLVH: 462, normal apical 4 chamber (a4c): 1,807HCM: 198 (genotype (+): 98, genotype (−): 100)Cardiac amyloidosis: 119, LVH of other origins: 122Fabry: 156, HCM: 59
AI methodDeep learningDeep learningDeep learningDeep learning
Model designGenerative adversarial networks (GAN)CNN (InceptionResnetV2)+RNN (LSTM)CNN (VGG)3D CNN (3D ResNet18)
Results-score (0.83), accuracy (0.92), AUC (-)-score (-), accuracy (0.84), AUC (0.84)-score (-), accuracy (0.83), AUC (0.9)-score (0.85), accuracy (0.91), AUC (0.91)
StrengthsThe study proposed data-efficient deep learning for medical imaging, leveraging semisupervised GANs to enhance model performance by utilizing labeled and unlabeled dataThe study assessed the deep learning model’s performance against established genotype prediction scores (Mayo Clinic I and II, Toronto), ensuring a reliable evaluationThe study demonstrated CNN’s performance against experienced human operators in visual analysis, assessing its potential to surpass traditional diagnostic methodsThe study used a 3D ResNet18, well suited for the cardiac MRI data’s inherent 3D nature, effectively capturing spatial and temporal information
WeaknessesThe study recognizes the constraint of a small sample size, urging future research to enhance generalizability through larger and more diverse datasetsThe study excludes patients with HCM phenocopies and poor image quality, which may introduce bias, limiting the model’s relevance to a broader populationThe study was limited to a single institution and a small dataset of cine-CMR images. The generalizability of the deep learning model to other institutions and patient populations is still being determinedThe study acknowledges a limitation in generalization capabilities due to the exclusive use of limited datasets from specific hospitals in Taiwan

HCM: hypertrophic cardiomyopathy; LVH: left ventricular hypertrophy.