Key result
A missense mutation in the GPD1L gene was identified in a 16-year-old male with insulin-dependent diabetes who died suddenly at night, suggesting a link to occult Brugada syndrome.
Case Report (n=1)
Molecular autopsy in a case of diabetic dead-in-bed syndrome revealed a GPD1L gene mutation linked to Brugada syndrome, suggesting a cardiac ion channelopathy etiology triggered by insulin and a full stomach.
May implicate GPD1L variants in diabetic dead-in-bed syndrome; hypothesis-generating and should not yet change practice.
Sudden unexpected nocturnal death among patients with diabetes occurs approximately ten times more commonly than in the general population. Malignant ventricular arrhythmia due to Brugada syndrome has been postulated as a cause, since a glucose-insulin bolus can unmask the Brugada electrocardiographic signature in genetically predisposed individuals. In this report we present a 16-year-old male with insulin-dependent diabetes who died suddenly at night. His diabetes had been well controlled, without significant hypoglycaemia. At autopsy, he had a full stomach and a glucose level of 7 mmol/L in vitreous humor, excluding hypoglycaemia. Genetic analysis of autopsy DNA revealed a missense mutation, c.370A>G (p.Ile124Val), in the GPD1L gene. A parent carried the same mutation and has QT prolongation. Mutations in this gene have been linked to Brugada syndrome and sudden infant death. The patient may have died from a ventricular arrhythmia, secondary to occult Brugada syndrome, triggered by a full stomach and insulin. The data suggest that molecular autopsies are warranted to investigate other cases of the diabetic dead-in-bed syndrome.
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Skinner et al. (2014) conducted a case report in Diabetic dead-in-bed syndrome (n=1). GPD1L gene mutation (c.370A>G) was evaluated on Sudden unexpected nocturnal death. A missense mutation in the GPD1L gene was identified in a 16-year-old male with insulin-dependent diabetes who died suddenly at night, suggesting a link to occult Brugada syndrome.