Wednesday, August 16, 2017

Mechanisms of unexpected death and autopsy findings in Friedreich ataxia

Roger W Byard, , John D Gilbert; Medicine, Science and the Law, First published date: August-13-2017, Doi:10.1177/0025802417723809

A 36-year-old woman with a clinical history of Friedreich ataxia and hypertrophic cardiomyopathy was found unexpectedly dead at her home. Sudden death due to cardiac disease, resulting in presentation for medicolegal autopsy, may be the presenting feature at all ages, including childhood.
The reported case demonstrates sudden death due to cardiac disease in a woman with an established diagnosis of Friedreich ataxia. Death may, however,be due to a wide range of other vascular, pulmonaryor endocrine diseases, which should be checked for at autopsy. Very rarely, sudden cardiac death may be the presenting feature of this condition.