Fatal cardiomyopathy in dystrophic epidermolysis bullosa

Abstract

Two unrelated children with autosomal recessive dystrophic epidermolysis bullosa (RDEB) developed fatal dilated cardiomyopathy. Both were malnourished and had severe growth problems. We believe that the most likely cause for the cardiomyopathy is a micronutrient deficiency, most probably selenium deficiency, since the serum selenium level was found to be reduced in the case in whom we measured this, and in 14 of 25 other children with dystrophic epidermolysis bullosa. Echocardiographic screening of 18 other patients revealed no evidence of cardiomyopathy. We recommend careful attention to nutrition, with prospective monitoring of vitamins and micronutrients including selenium and carnitine, and regular echocardiographic screening of patients with severe RDEB.

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

“…d Dilated cardiomyopathy is an uncommon complication of RDEB-HS, and may eventually prove fatal, especially in those with concurrent chronic renal failure d The cause may be multifactorial, to include micronutrient (selenium and carnitine) deficiency, transfusion-associated iron overload, and viral myocarditis Dilated cardiomyopathy is an uncommon complication of EB, described predominantly in patients with RDEB-HS, [36][37][38][39][40][41] but it also observed in other RDEB subtypes, including both the non-Herlitz 41 and Herlitz subtypes of JEB (JEB-nH and JEB-H, respectively; J. E. Mellerio, MD, oral communication, August 2008). In most cases, cardiomyopathy has been fatal, although prolonged survival 39 and even recovery 40 have been documented.…”

“…Malnutrition and micronutrient deficiency have been proposed as possible causes, specifically deficiency of selenium 38 and carnitine. 39 Deficiency of either of these nutrients is known to be associated with cardiomyopathy in other clinical settings and may be reversible when the deficiency is corrected.…”

“…The management of EB-associated cardiomyopathy includes the correction of possible nutritional deficiencies, treatment of anemia, avoidance of potentially cardiotoxic drugs, and the use of medications, including angiotensin-converting enzyme inhibitors, diuretics, and digoxin, 38,40 although these drugs may be insufficient to stabilize or reverse cardiac impairment in some patients.…”

Nutrition for Children with Epidermolysis Bullosa

“…34,35 However, it is equally possible that the extreme, globally malnourished state of these children contributed to the development of DCM. An association has been made between concurrent administration of amitriptyline and cisapride and the development of DCM in EB, because both drugs are potentially cardiotoxic.…”

Correction of Nutritional Status in Complex Therapy for Children Suffering From Dystrophic Forms of Innate Epidermolysis Bullosa

“…Помимо коррекции основной части рациона, больные с ВБЭ нуждаются в дополнительной дотации железа, цинка, по данным некоторых авторов -селена и карнитина [10,53], а также кальция и витамина D под медицинским контролем.…”