{
  "abstract": "Introduction Non-ischaemic cardiomyopathy (NICM) represents a heterogenous group of myocardial disorders with variable clinical trajectories. Despite advances in the management of cardiomyopathy, the interval between first clinical presentation and progression to end-stage disease varies widely. Some patients experience indolent disease progression over decades, whereas others deteriorate rapidly following initial presentation. This study assessed whether genotype status is associated with mode of initial presentation and time to heart transplantation in NICM.Methods This retrospective longitudinal study included patients with NICM who underwent orthotopic heart transplantation and clinical genetic testing at a national centre between 2010 and 2024. Patients were classified as gene-positive (pathogenic or likely pathogenic variant) or gene-negative. Time from first clinical presentation to transplantation was categorised as <1 year, 1-5 years, or >5 years. Mode of presentation and presence of late gadolinium enhancement (LGE) on cMRI were recorded. Associations were analysed using non-parametric statistical tests.Results Of 171 patients with NICM who underwent heart transplantation, genetic testing was performed in 139 (63% male, median 48 years old). 90 (65%) patients were gene-positive; TTN (26%) and MYH7 (21%) variants were most prevalent. 51 (37%) patients received a transplant within one year of initial presentation, 33 (24%) within one to five years, and 55 (39%) more than five years after initial presentation. Mode of presentation was heart failure (73%), cardiogenic shock (4%), cardiac arrest (2%), ventricular (13%) and atrial (8%) arrhythmias with no differences between gene positive and negative patients. There was a non-significant trend towards a longer interval between presentation and transplantation in gene-positive patients compared with gene-negative patients (p = 0.056). Increasing age at transplantation correlated with longer time to transplantation, while sex and LGE showed no association.Conclusion Genotype status was not associated with mode of presentation or time to heart transplantation in NICM. Larger, gene-specific longitudinal studies are required to improve prognostication in this population.",
  "authors": [
    {
      "affiliations": [
        "University of Glasgow, Glasgow, United Kingdom"
      ],
      "name": "Hannah Ferguey"
    },
    {
      "affiliations": [
        "University of Glasgow, Glasgow, United Kingdom",
        "West of Scotland Inherited Cardiac Conditions Service, Glasgow, United Kingdom"
      ],
      "name": "Simon Hobson"
    },
    {
      "affiliations": [
        "University of Glasgow, Glasgow, United Kingdom"
      ],
      "name": "Noah McDermott"
    },
    {
      "affiliations": [
        "West of Scotland Inherited Cardiac Conditions Service, Glasgow, United Kingdom"
      ],
      "name": "Fiona Moore"
    },
    {
      "affiliations": [
        "University of Glasgow, Glasgow, United Kingdom",
        "West of Scotland Inherited Cardiac Conditions Service, Glasgow, United Kingdom"
      ],
      "name": "Ruth McGowan"
    },
    {
      "affiliations": [
        "University of Glasgow, Glasgow, United Kingdom",
        "West of Scotland Inherited Cardiac Conditions Service, Glasgow, United Kingdom"
      ],
      "name": "Rachel Myles"
    },
    {
      "affiliations": [
        "University of Glasgow, Glasgow, United Kingdom",
        "West of Scotland Inherited Cardiac Conditions Service, Glasgow, United Kingdom"
      ],
      "name": "Caroline Coats"
    }
  ],
  "title": "456 Evaluation of genotype status and progression to heart transplantation in non-ischaemic cardiomyopathy (NICM)",
  "uid": "ffd5ed99-e167-598f-b9b7-09361432f80e"
}