{
  "abstract": "Background Testing for genetic causes of cardiomyopathy is useful for diagnosis, guiding treatment and family screening. Historically in the UK, genetic testing was carried out by specialist teams in inherited cardiac conditions (ICC) clinics. ICC and genetics services are not resourced to provide these services to the general heart failure population and so genetic testing for cardiomyopathy has been taken into mainstream heart failure teams. There is little data on the frequency of positive genetic tests in this setting and whether tests are requested appropriately.Methods We retrospectively analysed genetic tests requested by a heart failure team (3 consultants) at a tertiary cardiac centre from March 2024 to February 2025. We excluded patients known to the local ICC team. We explored whether testing followed current NHS national genomic test directory (NGTD) eligibility criteria. Clinical data including LVEF, coronary angiogram and cMRI results were reviewed.Results A total of 62 genetic panels were sent for 57 patients, The mean age was 52 years and comprised of 38 males and 19 females. 31 tests were sent as an inpatient, and 31 as an outpatient. The most common genetic panels were R132 dilated and arrhythmogenic cardiomyopathy DCM/ACM (n=37) and R131 hypertrophic cardiomyopathy HCM (n=20). Other testing (n=5) was performed for familial hypercholesterolaemia, hereditary amyloidosis, Fabry disease, haemochromatosis and thoracic aortic aneurysm.10 positive results and 1 high polygenic risk score were identified. 4 were positive from a clinical phenotype of DCM/ACM R132 (3 for TTN and 1 VCL) and 2 from HCM phenotype R131 (MYBPC3 and CSRP-3). Other positive finding were 2 cases of TTR (amyloid), and one each of APOB (high cholesterol) and HFE (haemochromatosis).59 of the 62 tests followed NGTD criteria, with deviations due to older age or borderline LVEF. 48 patients underwent cMRI, 27 patients underwent coronary angiography.17 (30%) individuals had a significant family history and yielded 5 positive results and one high polygenic risk score. 5 further positives were obtained from the 40 (70%) individuals who had no significant family history. No variants of uncertain significance were identified.Conclusion Mainstreaming of genetic testing for cardiomyopathy is practical and feasible within a heart failure service but does generate significant results which require action. The most common indication is a clinical phenotype of dilated or arrhythmogenic cardiomyopathy (60%) followed by unexplained left ventricular hypertrophy (32%). The rate of positive tests is around 16% and higher in those with a positive family history (30%) compared to those without (12.5%). Education and training of heart failure teams who provide counselling to patients about genetic testing in heart failure is critical to manage these patients and their families optimally.",
  "authors": [
    {
      "affiliations": [
        "Bristol Heart Institute, University Hospitals Bristol and Weston NHS Foundation Trust and University of Bristol Medical School"
      ],
      "name": "Tom Lester"
    },
    {
      "affiliations": [
        "Bristol Heart Institute, University Hospitals Bristol and Weston NHS Foundation Trust and University of Bristol Medical School"
      ],
      "name": "Yasmin Ismail"
    },
    {
      "affiliations": [
        "Bristol Heart Institute, University Hospitals Bristol and Weston NHS Foundation Trust and University of Bristol Medical School"
      ],
      "name": "Howell Williams"
    },
    {
      "affiliations": [
        "Bristol Heart Institute, University Hospitals Bristol and Weston NHS Foundation Trust and University of Bristol Medical School"
      ],
      "name": "Eva Sammut"
    },
    {
      "affiliations": [
        "Bristol Heart Institute, University Hospitals Bristol and Weston NHS Foundation Trust and University of Bristol Medical School"
      ],
      "name": "Angus K Nightingale"
    }
  ],
  "title": "5-025 Mainstreaming genetic testing in a heart failure service",
  "uid": "0712ec91-8faa-5cbd-bd43-a02780927761"
}