{
  "abstract": "Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 gene. Whilst SMA predominantly affects motor neurons, there is an association of cardiac manifestations. SMN2 modifiers like Risdiplam may impact the cardiovascular system and requires monitoring for QT prolongation.Aims Audit of all SMA patients on disease modifying drugs across three regional centres (St George’s, Salford and Sheffield) to assess the outcomes of cardiac monitoring.Methods A 24-month retrospective review of clinical notes and investigations across centres. All ECGs were reviewed by a cardiac electrophysiologist.Results A total of 78 patients were identified. 71 (91%) had ECGs to review and of these 16 (23%) demonstrated an abnormality. 24% SMA type 2 (mean age 35) and 17% SMA type 3 (mean age 42). 17 (22%) patients required cardiology assessment for their ECG/symptomatology. There was one case of long QTc which was found to be familial and not taking Risdiplam. Echocardiograms demonstrated 2 structural abnormalities.Conclusion We have demonstrated over a fifth of SMA patients across 3 regional centres exhibit ECG abnormalities and across a 2-year period over a fifth required a formal Cardiology assessment. With the advent of disease modifying therapy differentiating age-related vs primary SMA-associated cardiac manifestations becomes challenging.clare.galtrey@stgeorges.nhs.uk",
  "authors": [
    {
      "affiliations": [
        "St George’s Hospital"
      ],
      "name": "Byrne Calum"
    },
    {
      "affiliations": [
        "St George’s Hospital"
      ],
      "name": "Galtrey Clare M"
    },
    {
      "affiliations": [
        "St George’s Hospital"
      ],
      "name": "Tanzi Rosa"
    },
    {
      "affiliations": [
        "St George’s Hospital"
      ],
      "name": "Specterman Mark"
    },
    {
      "affiliations": [
        "Salford Royal Hospital"
      ],
      "name": "Kaul Ahaan"
    },
    {
      "affiliations": [
        "Salford Royal Hospital"
      ],
      "name": "Lilleker James B"
    },
    {
      "affiliations": [
        "Sheffield Teaching Hospitals NHS Foundation Trust"
      ],
      "name": "Hewamadduma Channa"
    }
  ],
  "title": "56 Cardiac involvement in adults with spinal muscular atrophy: a multi-centre audit of cardiac monitoring",
  "uid": "cd9a98f1-a645-50f2-9545-a8bb70c44e9f"
}