{
  "abstract": "Background Non-ischaemic dilated cardiomyopathy (DCM) is estimated to be familial in 30–50% of cases. The commonest genetic causes are variants in the Titin gene (TTN) accounting for 20–25% of cases, and the Lamin A/C gene (LMNA) accounting for 5–8%. While diagnostics and management plans are generalised across all causes of DCM, natural history and response to therapy may vary depending on cause.Objectives To compare baseline findings, natural history and response to treatment between cohorts of patients with LMNA and TTN attending a dedicated inherited cardiac conditions service.Methodology The cohorts of LMNA and TTN patients were compared with 1:1 matching. Parameters recorded included LV dimensions and ejection fraction [LVEF], late enhancement on CMR, ECG parameters (arrhythmias, conduction delay). The presence of neurological manifestations was noted, and the occurrence of major adverse cardiac events (MACE): death, transplantation, cardiac device implantation. Prescribed medication and response to same over follow up was recorded ( tables 1 and 2).Results 24 LMNA patients were included, the majority of which were male, with a median age at diagnosis of 34. Mean initial EF was 51% falling to 46% at follow-up (P=0.0049). 33% had 2nd-degree or higher AV-delay. 54% had atrial and 33% ventricular arrhythmia. 54% needed device implantation. In comparison the TTN cohort were older with a median age of 41. Mean EF improved from 40% to 46% at follow-up. There was a significant difference in LVEF at diagnosis (p=0.025) between both cohorts. None of the TTN cohort had 2nd-degree or higher AV-delay (p=0.002), and a lower number of devices were implanted at 25% (p=0.039).Conclusion The LMNA cohort demonstrated a higher rate of device implantation and transplant, and worsening EF compared to the TTN cohort. Confirming genotype early in the clinical course may facilitate early adoption of invasive strategies for LMNA patients.Abstract 80 Table 1Table of p values for interaction between various parameters within the 2 cohorts Parameter LMNA Cohort TTN cohort P Value LVEF at diagnosis (mean) 51% 40% 0.025 T-test LVEF at follow up (mean) 46% 49% 0.497 T-test LMNA cohort LVEF progression (at diagnosis vs on follow up) 51%  46% n/a 0.0049 T-test TTN cohort LVEF progression (at diagnosis vs on follow up) n/a 40%  49% 0.0094 T-test No. of patients with AV block >/= 2nd degree (at diagnosis) 2 0 0.069 Chi Square Test No. of patients with AV block >/= 2nd degree (at follow-up) 8 0 0.002 Chi Square test No. of patients with atrial arrhythmia (at any stage) 13 8 0.129 Chi Square test No. of patients with ventricular arrhythmia (at any stage) 8 8 0.753 Chi Square test Implantation of device (PPM or ICD or CRT-D) 13 5 0.039 Chi Square test Abstract 80 Figure 1Comparison of medication prescription rates between the two cohorts",
  "authors": [
    {
      "affiliations": [
        "Tallaght University Hospital, Dublin, Ireland",
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "M Ahmed"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "C Cawley"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "JL Li"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "M Marcojos"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "E Morgan"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "H Connaughton"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland",
        "Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "H Sulaiman"
    },
    {
      "affiliations": [
        "CRY Unit, Tallaght University Hospital, Dublin, Ireland",
        "Tallaght University Hospital, Dublin, Ireland"
      ],
      "name": "D Ward"
    }
  ],
  "title": "80 Retrospective comparative cohort study of lamniopathies versus titin mutation positive cardiomyopathies – an assessment of response to guideline directed medical therapy for heart failure with reduced ejection fraction",
  "uid": "e5484753-095f-5593-af23-d40d9b088157"
}