Machine learning-based classification and diagnosis of clinical cardiomyopathies

Physiol Genomics. 2020 Sep 1;52(9):391-400. doi: 10.1152/physiolgenomics.00063.2020. Epub 2020 Aug 3.


Dilated cardiomyopathy (DCM) and ischemic cardiomyopathy (ICM) are two common types of cardiomyopathies leading to heart failure. Accurate diagnostic classification of different types of cardiomyopathies is critical for precision medicine in clinical practice. In this study, we hypothesized that machine learning (ML) can be used as a novel diagnostic approach to analyze cardiac transcriptomic data for classifying clinical cardiomyopathies. RNA-Seq data of human left ventricle tissues were collected from 41 DCM patients, 47 ICM patients, and 49 nonfailure controls (NF) and tested using five ML algorithms: support vector machine with radial kernel (svmRadial), neural networks with principal component analysis (pcaNNet), decision tree (DT), elastic net (ENet), and random forest (RF). Initial ML classifications achieved ~93% accuracy (svmRadial) for NF vs. DCM, ~82% accuracy (RF) for NF vs. ICM, and ~80% accuracy (ENet and svmRadial) for DCM vs. ICM. Next, 50 highly contributing genes (HCGs) for classifying NF and DCM, 68 HCGs for classifying NF and ICM, and 59 HCGs for classifying DCM and ICM were selected for retraining ML models. Impressively, the retrained models achieved ~90% accuracy (RF) for NF vs. DCM, ~90% accuracy (pcaNNet) for NF vs. ICM, and ~85% accuracy (pcaNNet and RF) for DCM vs. ICM. Pathway analyses further confirmed the involvement of those selected HCGs in cardiac dysfunctions such as cardiomyopathies, cardiac hypertrophies, and fibrosis. Overall, our study demonstrates the promising potential of using artificial intelligence via ML modeling as a novel approach to achieve a greater level of precision in diagnosing different types of cardiomyopathies.

Keywords: artificial intelligence; cardiomyopathy; heart failure; machine learning; transcriptome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Artificial Intelligence*
  • Cardiomyopathies / classification*
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics
  • Computational Biology / methods
  • Databases, Genetic
  • Heart Failure / classification
  • Heart Failure / diagnosis
  • Heart Failure / genetics
  • Humans
  • Machine Learning*
  • Myocardial Ischemia / classification
  • Myocardial Ischemia / diagnosis
  • Myocardial Ischemia / genetics
  • Transcriptome