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Dilated cardiomyopathy in dystrophic epidermolysis bullosa
R U Sidwell1, R Yates, D Atherton
1Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK.
Insights
Dilated cardiomyopathy (DCM) is a frequent complication in children with severe dystrophic epidermolysis bullosa (DEB). Lower carnitine levels were observed in affected children, suggesting a potential link to this genetic skin disorder.
Area of Science:
- Genetics
- Cardiology
- Dermatology
Background:
- Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder.
- Dilated cardiomyopathy (DCM) has been observed in children with DEB.
- Previous reports noted lethal DCM in two DEB patients.
Purpose of the Study:
- To investigate the incidence of DCM in severe DEB patients.
- To identify potential risk factors for DCM in DEB.
- To recommend cardiac monitoring for DEB patients.
Main Methods:
- Routine screening of severe DEB patients over seven years.
- Yearly clinical review and echocardiography.
- Quantification of plasma selenium and carnitine concentrations.
Main Results:
- Six of 61 children with severe DEB developed DCM.
- Three of these children with DCM have died.
- Lower initial concentrations of free and total carnitine were found in children who developed DCM.
Conclusions:
- DCM is a significant complication of severe recessive DEB.
- Carnitine deficiency may be implicated in DCM development in DEB patients.
- Regular cardiac review, including echocardiography, is recommended for DEB patients.
Background:
Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children.
Methods:
In the past seven years we have routinely screened patients with severe DEB who have been under the care of this hospital by yearly clinical review, echocardiography, and quantification of plasma selenium and carnitine concentrations, as deficiency of these micronutrients is known to be associated with the development of DCM.
Results:
Six of 61 children have developed DCM over the seven year period of this study, four of whom have not been previously reported, and three of whom have since died. We compared the concentrations of selenium and free and total carnitine in the children who developed DCM to concentrations in those with severe DEB who did not. The concentrations of free and total carnitine when first measured were significantly lower in the children with DCM, but the selenium concentrations were not.
Conclusions:
We now believe that DCM is a not infrequent complication of severe recessive DEB, and may be related in part to carnitine concentrations, though the exact mechanism remains unclear. We therefore recommend that patients with this condition should undergo regular cardiac review including echocardiography.