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Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy
  1. P Sorajja1,*,
  2. M G Sweeney2,
  3. R Chalmers2,
  4. B Sachdev1,
  5. P Syrris3,
  6. M Hanna2,
  7. N D Wood2,
  8. W J McKenna1,
  9. P M Elliott1
  1. 1Department of Cardiological Sciences, St George’s Hospital Medical School, London, UK
  2. 2Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK
  3. 3Department of Medical Genetics, St George’s Hospital Medical School
  1. Correspondence to:
    Dr P M Elliott, Department of Cardiological Sciences, St George’s Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK;

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Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss1 that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases.2 Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complained of palpitations. The aim of this study was to determine the prevalence and nature of cardiac abnormalities in patients with LHON by systematically evaluating cardiac structure and function using echocardiography and adenosine testing.


The study population comprised 24 consecutive patients with LHON diagnosed at Queen Square Hospital, London. The diagnosis of LHON was based on characteristic clinical features of the disease and/or the presence of a primary LHON mutation.3 Cardiovascular examination and investigation were performed at St George’s Hospital, London. The investigation was approved by the local research ethics committee. All patients provided written informed consent before participation in the study.

Each patient underwent an initial clinical assessment and 12 lead ECG. ECG evidence of left ventricular hypertrophy was defined in accordance with Romhilt-Estes criteria. Ventricular pre-excitation was defined as a PR interval < 120 ms, QRS duration …

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  • * Also Mayo Clinic, Rochester, Minnesota, USA