Dilated cardiomyopathy in dystrophic epidermolysis bullosa: a lethal complication of epidermolysis bullosa

Abstract

EDITOR: We read with interest the review article by Iohom and Lyons concerning their experience of patients with epidermolysis bullosa presenting for anaesthesia [1]. We would like to highlight respectfully an omission that, although infrequent, is a serious complication of dystrophic epidermolysis bullosa, and which has significant anaesthetic implications. In 1996, Melville and colleagues reported two cases of fatal dilated cardiomyopathy occurring in recessive dystrophic epidermolysis bullosa; both patients were malnourished and had severe growth problems [2]. It was suggested that the most likely cause for the cardiomyopathy was a micronutrient deficiency, most probably of selenium, since the serum selenium concentration was reduced in one of the two cases and in 14 of 25 other children with dystrophic epidermolysis bullosa. In 2000, Sidwell and colleagues [3], in a review, presented data from the same institution that had accumulated over the preceding 7 yr where patients with dystrophic epidermolysis bullosa were routinely screened by echocardiography for the development of dilated cardiomyopathy. They found that six of the 61 patients with dystrophic epidermolysis bullosa attending hospital developed dilated cardiomyopathy (four of whom had not been previously reported), and three of these subsequently died. In the children who died, there was a rapid deterioration in cardiac function resulting in death within a few months of the diagnosis of dilated cardiomyopathy being made. The cardiac status of two of the other patients had remained stable since this diagnosis, while the remaining patient showed a gradual decline in cardiac function but had not yet required specific therapy. In this report, they also measured the plasma concentrations of both total and free carnitine, and of selenium in the patients who had dilated cardiomyopathy and compared them to those who did not. Those patients who subsequently developed dilated cardiomyopathy had an initial carnitine concentration significantly lower than those who remained normal (P = 0.006). The plasma selenium concentrations were non-significantly lower in those with dilated cardiomyopathy. As a result of these findings, these authors advocate routinely screening patients with dystrophic epidermolysis bullosa for evidence of development of dilated cardiomyopathy. They also highlight the need to maintain adequate plasma carnitine concentrations and consider the need for early gastrostomy. We suggest that this serious and potentially fatal complication should be borne in mind by those asked to provide anaesthesia for these challenging patients, and that any patient with cardiovascular symptoms or signs should undergo echocardiographic investigation before anaesthesia. P. M. D. Cunnington St Helier Hospital, Carshalton; London, UK R. Addison Medway Maritime Hospital, Gillingham; Kent, UK