Dilated Cardiomyopathy in Epidermolysis Bullosa: A Retrospective, Multicenter Study

Abstract

Dilated cardiomyopathy (DC) has been reported in severe epidermolysis bullosa (EB) subtypes. Poor nutritional status, low carnitine levels, selenium deficiency, chronic iron overload, drugs and viral etiology have been proposed as potential contributors. This was a retrospective, descriptive, multicenter study describing EB patients that developed DC, and determining potential pre-disposing risk factors. Fifteen patients were enrolled in the study; 11 of them were male subjects (73%). Eighty-seven per cent of the participants had dystrophic EB and 13% had junctional EB. Mean age at diagnosis of DC was 12.18 +/- 4.99 years. Chronic anemia was diagnosed in 13 of 15 patients (86.7%). Sixty per cent of patients had prior red blood cell transfusions. At diagnosis, selenium levels were low in 55% of the patients (n = 11) and total carnitine levels were low in 45% of the patients (n = 11). Systolic function was moderately impaired, with a mean shortening fraction of 19.38% (SD = 5.04, n = 8). After a mean follow-up period of 6.3 +/- 4.8 years, six patients were alive without being on any medications (40.0%), two were alive on medications (13.3%) and seven had died (46.7%). Limitations of the study was that it was a retrospective chart review with relatively small sample size. Retrospective chart review, relatively small sample size. This study substantiates the association between DC and EB. Currently, there is no single risk factor identified in EB patients that leads to DC. Further prospective studies are needed.

Left Ventricular Noncompaction Cardiomyopathy and Aortopathy in a Patient With Recessive Dystrophic Epidermolysis Bullosa

“…An association between EB and dilated CM (DCM) has been appreciated for at least 25 years, but a common mechanism of disease has not emerged. 1 In this report, we present a patient with EB and left ventricular noncompaction (LVNC), a newly recognized type of CM. 2 EB is a broad group of diseases characterized by skin fragility and blistering.…”

“…In considering a possible link between EB and LVNC, the extracellular matrix is a compelling area of overlap. The absence of type VII collagen is responsible for all cases of RDEB, 1 and disruption of extracellular matrix is known to lead to CM in both animal models and patients. 3 Although type VII collagen has not been shown to have a role in the heart, its normal function may serve as a major modifier of factors that regulate cardiovascular remodeling and function.…”

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

“…The fragility of the skin and mucous membranes in EB patients results in the involvement of many organs and systems [1-5,11-18] (Tables 1 and 2). In addition, disease manifestations vary upon the age of the patients and the EB type and subtype.…”

Progress in epidermolysis bullosa: summary of a workshop in CILAD‐2010*

“…This need for awareness of cancer risk was emphasized by the fact that aggressively metastasizing SCCs are the major cause of mortality (up to 80%) in older patients with EB, particularly with RDEB. A new observation is that perhaps as many as 30% of RDEB cases have cardiomyopathy with clinical manifestations 6 . The take‐home message of Dr. Mellerio’s presentation was that physicians should have a high suspicion of lesions for SCC, and such lesions should be readily biopsied and rebiopsied.…”