2 thoughts on “a cause of death question”

  1. Whilst Rubinstein-Taybi syndrome is associated with cardiac anomalies, it is not associated with those shown in this case (see https://rarediseases.org/rare-diseases/rubinstein-taybi-syndrome/ for more info). It also does not appear to be a cause of epilepsy (in the absence of an associated CNS tumour).

    The small vessel disease and associated interstitial myocardial fibrosis is, in my view, sufficient to account for death. Myocardial fibrosis is arrhythmogenic, and cardiac dysrhythmia is the likely mode of death.

    Rubinstein Taybi syndrome can cause sleep apnoea (it is a cause of laryngomalacia) but this does not appear to be the mode of death here. In the presence of a cause of death in the heart I would not ascribe death to epilepsy. In the absence of structural cardiac anomalies associated with it, I would not ascribe death to Rubinstein Taybi syndrome, but there is scope here for an interesting discussion in the report.

  2. Thank you very much indeed, that is very helpful. So would you give a cause of death as small vessel disease (coronary microvascular disease) and not add Rubinstein at all?

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