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Detection of subclinical hypertrophic cardiomyopathy

Nature Reviews Cardiology volume 20, pages 369–370 (2023)Cite this article

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Hypertrophic cardiomyopathy (HCM) is defined by ventricular hypertrophy. However, the broader phenotype includes abnormal cardiomyocyte orientation (disarray), myocardial ischaemia and electrical abnormalities, which seem to manifest before overt hypertrophy. With advances in cascade genetic testing and novel therapeutic agents, the detection of subclinical HCM is a rapidly emerging priority. In this context, we outline the role of novel biomarkers, particularly quantitative perfusion and diffusion tensor MRI.

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References

  1. Ommen, S. R. et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy. Circulation 142, e558–e631 (2020).

    PubMed  Google Scholar 

  2. Garcia-Canadilla, P. et al. Myoarchitectural disarray of hypertrophic cardiomyopathy begins pre-birth. J. Anat. 235, 962–976 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Hughes, R. K. et al. Myocardial perfusion defects in hypertrophic cardiomyopathy mutation carriers. J. Am. Heart Assoc. 10, e020227 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Lehman, S. J., Crocini, C. & Leinwand, L. A. Targeting the sarcomere in inherited cardiomyopathies. Nat. Rev. Cardiol. 19, 353–363 (2022).

    Article  PubMed  Google Scholar 

  5. Ariga, R. et al. Identification of myocardial disarray in patients with hypertrophic cardiomyopathy and ventricular arrhythmias. J. Am. Coll. Cardiol. 73, 2493–2502 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  6. Captur, G. et al. Identification of a multiplex biomarker panel for hypertrophic cardiomyopathy using quantitative proteomics and machine learning. Mol. Cell. Proteomics 19, 114–127 (2020).

    Article  CAS  PubMed  Google Scholar 

  7. Lorenzini, M. et al. Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers. J. Am. Coll. Cardiol. 76, 550–559 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Rudy, Y. Noninvasive mapping of repolarization with electrocardiographic imaging. J. Am. Heart Assoc. 10, e021396 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

  9. Ho, C. Y. et al. The burden of early phenotypes and the influence of wall thickness in hypertrophic cardiomyopathy mutation carriers: findings from the HCMNet study. JAMA Cardiol. 2, 419–428 (2017).

    Article  PubMed  PubMed Central  Google Scholar 

  10. Raman, B. et al. Association between sarcomeric variants in hypertrophic cardiomyopathy and myocardial oxygenation: insights from a novel oxygen-sensitive cardiovascular magnetic resonance approach. Circulation 144, 1656–1658 (2021).

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

G.J. is funded by a British Heart Foundation Clinical Research Training Fellowship (FS/CRTF/21/2469). J.C.M. receives funding directly and indirectly from the NIHR Biomedical Research Centres at University College London Hospitals and Barts Health NHS Trusts. L.R.L. is supported by a Medical Research Council (MRC) UK Research and Innovation (UKRI) Clinical Academic Research Partnership (CARP) award (MR/T005181/1).

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Authors and Affiliations

  1. Institute of Cardiovascular Science, University College London, London, UK

    George Joy, James C. Moon & Luis R. Lopes

  2. Barts Heart Centre, St Bartholomew’s Hospital, London, UK

    George Joy, James C. Moon & Luis R. Lopes

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  1. George Joy
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  2. James C. Moon
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  3. Luis R. Lopes
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Correspondence to George Joy.

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Competing interests

J.C.M is the chief executive officer of Mycardium AI and has served on advisory boards for Genzyme and Sanofi. L.R.L. has received consulting/speaker fees from Bristol Myers Squibb, NovoNordisk and Sanofi, and is funded by a project grant from Bristol Myers Squibb. G.J. declares no competing interests.

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Joy, G., Moon, J.C. & Lopes, L.R. Detection of subclinical hypertrophic cardiomyopathy. Nat Rev Cardiol 20, 369–370 (2023). https://doi.org/10.1038/s41569-023-00853-7

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