Separation of HCM and LQT Cardiac Diseases with Machine Learning of Ca 2+ Transient Profiles

Henry Joutsijoki, Kirsi Penttinen, Martti Juhola, Katriina Aalto-Setälä

Research output: Contribution to journalArticleScientificpeer-review

1 Citation (Scopus)


Background Modeling human cardiac diseases with induced pluripotent stem cells not only enables to study disease pathophysiology and develop therapies but also, as we have previously showed, it can offer a tool for disease diagnostics. We previously observed that a few genetic cardiac diseases can be separated from each other and healthy controls by applying machine learning to Ca 2+ transient signals measured from iPSC-derived cardiomyocytes (CMs). Objectives For the current research, 419 hypertrophic cardiomyopathy (HCM) transient signals and 228 long QT syndrome (LQTS) transient signals were measured. HCM signals included data recorded from iPSC-CMs carrying either α-tropomyosin, i.e., TPM1 (HCMT) or MYBPC3 or myosin-binding protein C (HCMM) mutation and LQTS signals included data recorded from iPSC-CMs carrying potassium voltage-gated channel subfamily Q member 1 (KCNQ1) mutation (long QT syndrome 1 [LQT1]) or KCNH2 mutation (long QT syndrome 2 [LQT2]). The main objective was to study whether and how effectively HCMM and HCMT can be separated from each other as well as LQT1 from LQT2. Methods After preprocessing those Ca 2+ signals where we computed peak waveforms we then classified the two mutations of both disease pairs by using several different machine learning methods. Results We obtained excellent classification accuracies of 89% for HCM and even 100% for LQT at their best. Conclusion The results indicate that the methods applied would be efficient for the identification of these genetic cardiac diseases.

Original languageEnglish
Pages (from-to)167-178
Number of pages12
JournalMethods of Information in Medicine
Issue number4-5
Publication statusPublished - 2019
Publication typeA1 Journal article-refereed


  • calcium transient signal
  • genetic cardiac diseases
  • machine learning
  • mutations

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  • Publication forum level 2


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