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Genetic testing in cardiomyopathies: do we need to redefine the UK national testing criteria?

Andrew Chisom Madu1, Anthony David Dimarco1,2, Amy Hardy-Wallace1

  • 1Essex Cardiothoracic Centre, Basildon University Hospital, Basildon, UK.

Open Heart
|January 21, 2026
PubMed

Insights

A significant number of patients with inherited cardiomyopathy and a genetic cause did not meet UK testing criteria. Wider genetic testing (GT) guidelines, focusing on phenotype severity, could benefit at-risk relatives.

Area of Science:

  • Cardiovascular Genetics
  • Genomic Medicine

Background:

  • Inherited cardiac conditions like dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) often have a monogenic cause.
  • Genetic testing (GT) can identify pathogenic gene variants, impacting patient management and family screening.
  • Current UK National Genomic Test Directory (NGTD) criteria for GT are restrictive, contrasting with broader European Society of Cardiology (ESC) recommendations.

Purpose of the Study:

  • To determine the prevalence of pathogenic genotypes in patients with DCM or HCM who did not meet NGTD criteria for genetic testing.
  • To evaluate the diagnostic yield of GT in this cohort and its implications for family members.

Main Methods:

  • Retrospective analysis of 257 patients with confirmed DCM or HCM undergoing GT.
  • Data collected from the Essex Inherited Cardiac Conditions Clinic between January 2023 and January 2025.

Main Results:

  • The diagnostic yield of GT was 19.9% for DCM and 17.4% for HCM.
  • 14.8% of gene-positive DCM patients and 14.3% of gene-positive HCM patients did not meet NGTD criteria, often due to age of onset.
  • All DCM patients not meeting criteria showed myocardial fibrosis, suggesting phenotype severity is a key indicator.

Conclusions:

  • Approximately 1 in 7 patients with cardiomyopathy and a pathogenic genotype fall outside current UK testing criteria.
  • Adopting wider ESC guidelines, emphasizing phenotype severity (e.g., myocardial scarring) over strict age cut-offs, is recommended.
  • Implementing broader GT criteria can facilitate predictive testing for an average of 4 at-risk first-degree relatives per identified patient.
Abstract

Keywords:
CardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, HypertrophicGenetic ServicesGenetics

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