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  • Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome

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Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome
  1. J A Goodship1,
  2. J O'Sullivan2,
  3. P F Chinnery3,
  4. A K Ryan1,
  5. N Ziakas4,
  6. C M Hall5,
  7. M Clarke4
  1. 1Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
  2. 2Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne, UK
  3. 3Department of Neurology, Newcastle University, Newcastle upon Tyne, UK
  4. 4Department of Opthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  5. 5Department of Radiology, Great Ormond Street Hospital, London, UK
  1. Correspondence to:
 Dr J Goodship, Institute of Human Genetics, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK;
 j.a.goodship{at}ncl.ac.uk

https://doi.org/10.1136/jmg.39.3.221

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    We report a young woman with dilated cardiomyopathy, severe visual dysfunction, and short stature secondary to a previously unrecognised skeletal dysplasia. Her mother and sister died before we met the proband; both had had a sudden cardiac death and both also had impaired vision and we include the information gleaned from their hospital records.

    CASE REPORTS

    The proband's mother had attended a school for the partially sighted and was of normal intelligence. Her visual acuities as an adult were 6/60 in her right eye and 3/60 in her left eye. Unfortunately, there is no information regarding the appearance of her optic discs or retinae. She was of average build, with an adult height of 163 cm (50th centile). There was no clinical indication for skeletal radiographs to be taken. She had two pregnancies, leading to the proband and her sister who are described below. A heart murmur noted during childhood had persisted into adult life and an ECG showed frequent ectopic beats. She died suddenly and unexpectedly aged 30, while sitting in a motor vehicle. There was no history of prodromal symptoms or previous episodes of syncope or presyncope. Necropsy showed slight hypertrophy of both ventricles with a congested myocardium. The cardiac histology was consistent with a diagnosis of dilated cardiomyopathy. The proband's father has not been examined by us but has no history of visual, cardiac, or skeletal problems.

    The proband's sister's visual acuities were 4/60 in the right eye and 6/36 in her left eye at 6 years of age. She had nystagmus and a high myopic refractive error. Examination under anaesthesia showed hypoplastic discs with an oblique/inverse appearance and myopic peripapillary atrophy. Her macula and retinal vessels were normal and her electroretinogram (ERG) was within normal limits. She attended a school for the blind from the age of 7 …

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