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

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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.

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