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Detection of subclinical hypertrophic cardiomyopathy

Nature Reviews Cardiology (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.

Hypertrophic cardiomyopathy (HCM) is defined clinically by left ventricular hypertrophy (LVH) that is not explained by abnormal loading conditions. HCM is a leading cause of heart failure and sudden cardiac death. Each of the approximately 500,000 individuals with HCM in the USA and 1.5 million individuals in Europe (the disease has an estimated prevalence of 1 in 500) at one stage had ‘subclinical’ disease. Cascade screening is increasingly identifying individuals who are carriers of genetic variants that predispose them to developing HCM1. The detection or exclusion of early phenotypic changes — subclinical HCM — in these individuals can affect the frequency of follow-up, influence risk stratification and, importantly, might in the future be a trigger for the implementation of novel therapies (such as myosin inhibitors) to prevent the development of an overt clinical phenotype.

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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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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 (2023). https://doi.org/10.1038/s41569-023-00853-7

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