AI助力心脏淀粉样变诊断,从筛查到治疗监测全链条应用
Artificial Intelligence Across the Cardiac Amyloidosis Diagnostic Pathway: From Single-Modality Detection to Multimodal Clinical Integration
- 按临床任务组织AI应用,而非按影像模态划分
- 骨显像与SPECT/CT的量化分析已具备外部验证,接近临床落地
- 亚型分类与预后评估仍受限于小样本和标注不一致
心脏淀粉样变性(CA)日益受到关注,但因临床表现和影像特征与常见心肌病重叠而被严重漏诊。明确亚型及管理需整合多模态证据以区分转甲状腺素蛋白型与轻链型。机器学习与深度学习已应用于从心电图、超声心动图、电子病历筛查,到心脏磁共振和核医学影像解读,包括SPECT/CT生物标志物定量、预后建模与治疗反应评估。本叙述性综述按筛查、检测、量化、预后和治疗反应监测等临床任务组织现有研究,而非按输入模态。这种任务导向的梳理揭示了相似AI模型在人群、金标准、评估指标和实施阈值上的差异。证据显示成熟度存在梯度:骨显像与SPECT/CT的二分类检测和量化分析最接近临床转化,已有大样本外部验证,且量化结果可解释并关联预后;而亚型识别、风险分层和治疗反应监测仍处于早期阶段,受限于小样本、回顾性设计、标签异质性、外部验证不充分以及真实流行率下的校准不确定性。各任务中,高区分能力本身不足以为凭。
原文摘要 · Abstract (English)
Cardiac amyloidosis (CA) is increasingly recognized but remains substantially underdiagnosed, because its clinical and imaging phenotype overlaps with more common cardiomyopathies. Definitive subtype assignment and management further require integration of multimodal evidence to distinguish transthyretin from light chain disease. Machine learning and deep learning have been applied across the diagnostic and management pathway. These applications span ECG, echocardiography, and health record-based case finding, as well as CMR and nuclear interpretation, including SPECT/CT biomarker quantification, prognostic modeling, and treatment response assessment. This narrative review synthesizes these studies by clinical tasks, namely screening, detection, quantification, prognosis, and treatment response monitoring, rather than by input modality. This task-based organization clarifies why apparently similar AI models require different cohorts, reference standards, evaluation metrics, and implementation thresholds. The evidence reveals a maturity gradient. Binary detection and AI assisted quantification on bone scintigraphy and SPECT/CT are closest to clinical translation. Detection is supported by large externally validated cohorts, and quantification by interpretable, outcome linked measurement of myocardial tracer burden. By contrast, subtype aware classification, prognostic risk stratification, and treatment response monitoring remain at an early stage. These tasks are limited by small cohorts, enriched retrospective designs, heterogeneous labels, incomplete external validation, and uncertain calibration in realistic prevalence settings. Across tasks, high discrimination alone is insufficient.
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