ECG2Gene: Deep Learning-Based Germline Tumor Susceptibility Gene Risk Assessment Using Electrocardiograms

Clinical interpretation of a 12-lead electrocardiogram (ECG) often requires answering targeted diagnostic questions with clear, quantifiable decisions. We introduce ECGJev, the first ECG framework built on a decision decoder, a pretrained language model trained to return a probability for every listed option. A question-conditioned bridge compresses frozen waveform and spectrogram features into 16 ECG tokens, and a two-stage procedure adapts the bridge and low-rank adapters on the decoder's native option readout using diagnostic labels alone, scoring all options for a question in one forward pass. Evaluated across four ECG benchmarks, ECGJev achieves the highest macro-F1 on CPSC2018 (80.46%), PTB-XL (71.68%) and Chapman (96.86%), and generalizes competitively to the small-sample PTB cohort. Concept probes and perturbation analyses further show that its predictions rely directly on the ECG input, remain stable under option-order and wording variations, and transfer zero-shot to unseen waveform concepts. Our code is available at https://github.com/zhuoyuanli-lab/ECGJev.

Therapy-induced cardiotoxicity is the leading non-oncological cause of treatment interruption in breast cancer patients, yet early, automated risk stratification from routine cardiac imaging remains an unsolved problem. We present EchoRisk, the first curated, multicentre, longitudinal echocardiography dataset with explicit cardiotoxicity labels, released as the primary technical reference for the EchoRisk-MICCAI 2026 challenge. The dataset comprises 422 patients enrolled in the EU-funded CARDIOCARE prospective study across five European sites, yielding 2,159 echocardiography videos across 1,123 clinical exams acquired at up to five longitudinal timepoints, alongside a dedicated cohort of 280 patients with baseline imaging for early cardiotoxicity prediction. Three clinically grounded tasks are defined: automated estimation of left ventricular ejection fraction from cine video (Task 1), classification of LV dysfunction from longitudinal imaging (Task 2), and early prediction of therapy-induced cardiotoxicity from pre-therapy baseline echocardiography alone (Task 3). For each task we specify the evaluation protocol, primary and secondary metrics, and ranking procedure. We establish baseline performance using an R(2+1)D video backbone with LSTM aggregation trained from Kinetics-400 pretrained weights, demonstrating strong discriminative performance for cardiac functional assessment and LV dysfunction classification, while early cardiotoxicity prediction from a single pre-therapy video remains a significant open problem for the community. The dataset, evaluation code, and baseline implementations are publicly available to serve as a benchmark for further collaboration, comparison, and the creation of task-specific architectures in cardio-oncology.

Laboratory measurements are essential for clinical decision making but typically require invasive blood sampling. Recent research suggests that ECG recordings may contain information beyond cardiac rhythm and provide information related to laboratory values. This thesis investigates NT-proBNP prediction from ECG recordings and patient metadata using a multimodal deep learning framework, while considering the physiological plausibility of ECG-based prediction. It also compares a 1-lead configuration using lead II with the corresponding 12-lead configuration. Additional experiments on glucose, hemoglobin, and potassium are presented in the appendix. Regression, binary classification, and three-class classification experiments were conducted using MIMIC-IV, with the three-class task based on clinically established thresholds. The 12-lead configuration consistently achieved better performance. Regression reached a mean absolute error of 534.98 pg/mL for 1-lead and 514.27 pg/mL for 12-lead. Binary classification achieved AUROCs of 0.849 and 0.876, respectively, while three-class classification achieved macro-averaged AUROCs of 0.738 and 0.752. The results indicate that precise NT-proBNP regression remains challenging, whereas broader concentration ranges can be classified more effectively. The findings are consistent with the physiological hypothesis that ECG characteristics and NT-proBNP concentrations reflect shared cardiovascular processes. ECG-based NT-proBNP prediction may therefore provide complementary information, particularly for classifying broader concentration ranges. However, laboratory measurements remain necessary, and validation on independent datasets is required.