Dilated Cardiomyopathy Complicating a Case of Epidermolysis Bullosa Dystrophica

Abstract

A child with epidermolysis bullosa dystrophica, recessive type (EBDR) developed significant anemia at 9 years of age and was treated with long-term transfusion therapy. At age 17 he had symptoms of congestive heart failure secondary to dilated cardiomyopathy. Treatment with digoxin and vasodilators for the past year has failed to improve his cardiomyopathy significantly. Chronic iron overload and secondary hemosiderosis may have contributed to his problems, and we propose that chelation therapy be used in any child receiving long-term transfusion therapy.

Identification of mutations in theCOL7A1gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency

“…Several cases of dilated cardiomyopathy in children with RDEB have been described. [6][7][8] In addition, mitral valve prolapse, which has a known association with several connective tissue disorders, has also been reported in two patients with RDEB. 9,10 The common pathological mechanism between the valvular anomaly and RDEB was thought to be due to an abnormality of collagen metabolism.…”

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

“…43,44 Chronic anemia is very common in severe EB, and is recognized as a cause of dilated cardiomyopathy in its own right. Iron overload from repeated transfusions has also been suggested as a cause of cardiomyopathy in RDEB, 37 although this has been excluded in other cases. 39 Viral myocarditis has also been proposed as a mechanism, and was the probable cause in an adult with RDEB presenting with flu-like symptoms before the onset of cardiomyopathy that resolved following supportive treatment.…”

“…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.…”

Lethal cardiomyopathy in epidermolysis bullosa associated with amitriptyline

“…R ecessive dystrophic epidermolysis bullosa (RDEB) is a chronic debilitating skin disorder characterised by widespread painful blistering and skin fragility. There are previous reports of dilated cardiomyopathy (DCM) and sudden death in RDEB [1][2][3][4] (see table 1). Many departments, including our own, employ routine echocardiographic screening in this condition.…”

“…Reports of dilated cardiomyopathy in recessive dystrophic epidermolysis bullosaBrook et al (1989) Case report Long term transfusion therapy with secondary iron overloadMelville et al (1996) Case series (n = 2) Selenium deficiencySidwell et al (2000) Case series (n = 6) Carnitine deficiencyMorelli et al (2001) …”