{
  "abstract": "Background LMNA gene-related dilated cardiomyopathy (DCM), or laminopathy, leads to severe heart failure, neuromuscular involvement and ventricular arrhythmia and has been described as the most frequent DCM genetic cause requiring heart transplantation (HTx). However, no study has specifically evaluated outcomes of HTx in patients with laminopathy. We aimed to describe and evaluate the clinical outcomes of this specific population.Methods Data from all consecutive patients with laminopathy who underwent HTx (LMNA-HTx) between 2003 and 2024 in three French centres were retrospectively extracted. Patients in the LMNA-HTx group were compared with patients with matched non-ischaemic DCM who underwent HTx (DCM-HTx) using propensity score matching. The primary endpoints were 1 year and long-term post-HTx survival. Secondary objectives were to describe mortality risk factors and assess the progression and impact of neuromuscular symptoms after HTx.Results 40 patients with laminopathy underwent HTx (median age 45.4 years, 57.5% males). HTx followed electrical storm (ES) in 33% of cases. Post-HTx survival at 3 months, 1 year and 5 years was 90%, 74% and 70%, respectively, comparable to 160 matched patients in the DCM-HTx group (Kaplan-Meier survival analysis: HR: 1.01; 95% CI 0.52 to 1.95; p=0.98). The occurrence of ES in the days preceding HTx emerged as the only factor associated with mortality (Kaplan-Meier survival analysis: HR: 8.46; 95% CI 1.66 to 43.17; p=0.002). Neuromuscular and extracardiac involvement was not associated with mortality and did not worsen after HTx.Conclusions In this first systematic evaluation of HTx in patients with laminopathy, we show that post-transplant survival was comparable between LMNA-HTx and matched DCM-HTx patients and was not associated with neuromuscular involvement. In contrast, ES occurred in one-third of patients prior to HTx and was associated with mortality. These findings support considering HTx early in the disease course, particularly in the setting of arrhythmogenic instability, while mild neuromuscular involvement should not be viewed as a contraindication.",
  "authors": [
    {
      "affiliations": [
        "APHP, Department of Cardiology, Pitié-Salpêtrière Hospital, Paris, France",
        "Sorbonne Université, IHU-ICAN, UMR-S 1166, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Gauthier Giordano"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiac Surgery, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Guillaume Coutance"
    },
    {
      "affiliations": [
        "Paris Cardiomyopathy Center Associated Laboratory, IMAGINE, Paris, France",
        "APHP, Department of Cardiology, Cochin Hospital, Paris, France",
        "FILNEMUS, Centre de Référence des maladies Neuromusculaires Nord-Est-Ile de France, Paris Cité Université, Paris, France"
      ],
      "name": "Karim Wahbi"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiology, Pitié-Salpêtrière Hospital, Paris, France",
        "Sorbonne Université, IHU-ICAN, UMR-S 1166, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Lise Legrand"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiac Surgery, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Shaida Varnous"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiology, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Francoise Pousset"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiology, Pitié-Salpêtrière Hospital, Paris, France",
        "Sorbonne Université, IHU-ICAN, UMR-S 1166, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Richard Isnard"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiology, Unit of severe Heart Failure, Hôpital Européen Georges Pompidou, Paris, France"
      ],
      "name": "Anne-Céline Martin"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiology, Pitié-Salpêtrière Hospital, Paris, France",
        "Sorbonne Université, IHU-ICAN, UMR-S 1166, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Estelle Gandjbakhch"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiac Surgery, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Guillaume Lebreton"
    },
    {
      "affiliations": [
        "APHP, Metabolic Biochemistry Department, Unit Molecular Cardiogenetics, Pitié-Salpétriêre Hospital, Paris, France"
      ],
      "name": "Pascale Richard"
    },
    {
      "affiliations": [
        "Department of Cardiac Surgery, CHRU de Nancy Institut Louis Mathieu, Vandœuvre-lès-Nancy, France"
      ],
      "name": "Juan-Pablo Maureira"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiac Surgery, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Pascal Leprince"
    },
    {
      "affiliations": [
        "APHP, Department of Cardiology, Pitié-Salpêtrière Hospital, Paris, France",
        "Sorbonne Université, IHU-ICAN, UMR-S 1166, Pitié-Salpêtrière Hospital, Paris, France",
        "APHP, Department of Genetic, Centre de référence des maladies cardiaques héréditaires ou rares, Pitié-Salpêtrière Hospital, Paris, France"
      ],
      "name": "Philippe Charron"
    }
  ],
  "title": "Cardiac and extracardiac outcomes after heart transplantation in laminopathies",
  "uid": "c053e627-04a3-5819-8563-b805fd581dd2"
}