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Hypertrophic Cardiomyopathy

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Abstract

Purpose of Review

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition with potential for severe complications including sudden cardiac death. Early diagnosis allows appropriate risk stratification and prompt intervention to minimise the potential for adverse outcomes. The implications of poorly coordinated screening are significant, either missing relatives at high-risk or burdening low-risk individuals with a diagnosis associated with reduced life expectancy. We aim to guide clinicians through the diagnostic pathway through to novel treatment options. Several conditions mimic the condition, and we discuss the phenocopies and how to differentiate from HCM.

Recent Findings

We summarise the latest developments informing clinical decision making in the modern era of myosin inhibitors and future gene editing therapies. Early identification will enable prompt referral to specialist centres.

Summary

A diagnostic flowchart is included, to guide the general cardiology and heart failure clinician in important decision making regarding the care of the HCM patient and importantly their relatives at risk. We have highlighted the importance of screening because genotype-positive/phenotype-negative patients are likely to have the most to gain from novel therapies.

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Authors and Affiliations

  1. Essex Cardiothoracic Centre, Nethermayne, Basildon, Essex SS16 5NL, UK

    Jason N. Dungu, Amy Hardy-Wallace, Anthony D. Dimarco & Henry O. Savage

  2. Anglia Ruskin University, Chelmsford, UK

    Jason N. Dungu & Henry O. Savage

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All authors contributed to the manuscript text and revision.

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Correspondence to Jason N. Dungu.

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JND received a fee from Bristol Myers Squibb to attend an advisory board meeting.

AHW, ADD, and HOS declare that they have no conflict of interest.

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Dungu, J.N., Hardy-Wallace, A., Dimarco, A.D. et al. Hypertrophic Cardiomyopathy. Curr Heart Fail Rep (2024). https://doi.org/10.1007/s11897-024-00654-0

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