Dilated cardiomyopathy (DC) is a rare disease in the pediatric population, with an incidence of 0.6 to 0.7 per 10,000 children. The World Health Organization defines DC as the progressive dilatation and impaired contractility of the left or both ventricles. A specific cause is determined in only one-third of patients and may involve idiopathic, familial or genetic, viral or autoimmune, and toxic or drug causes. The largest group is idiopathic DC. The term cardiomyopathy is also used for diseases that are associated with specific cardiac or systemic disorders, previously defined as specific heart muscle diseases, such as inflammatory and metabolic cardiomyopathies (micronutrient deficiencies).

The link between epidermolysis bullosa (EB) and DC has recently been described. Current data provided by the National EB Registry of the United States suggest a cumulative risk of DC of 4.51% in recessive dystrophic EB Hallopeau-Siemens type (RDEB-HS) (in or after the age of 20 years), 1.14% in junctional EB (JEB), and 0.4% in non–RDEB-HS. Although the registry provides valuable information, data are based on patients’ self-reports, and lack cardiac muscle biopsy specimens and echocardiogram diagnostic confirmation.

The first report of a patient with EB who presented with DC and died was made in 1986 by Sharratt and colleagues, but little information was given about the patient’s nutritional status and history. In 1989, Brook and colleagues published a second case of a 17-year-old male patient with RDEB who developed heart failure secondary to DC. Several other case reports and case series have been published since then ( Table 1 ). No clear cause has been identified, but iron overload, low carnitine, low selenium, concomitant viral illness, chronic anemia, and medications have been proposed as possible contributors to the development of DC in the reported cases.

Several observations can be derived from the summary of the published articles. All patients had RDEB and presented with DC at a mean age of 10.0 ± 6.6 years. The ejection fraction was low at diagnosis (9%–37%) with a mean of 20.6% ± 8.5%. The mortality was high (61.5%) and frequently occurred within the first 3 months after diagnosis of DC, suggesting that it may be too late to change the negative outcome if patients are diagnosed when symptomatic. Among the reported cases, low hemoglobin, low selenium, and low carnitine, either alone or in combination with other factors, may have played a role in causing DC.

Similar data were found in the largest retrospective series of patients with EB and DC presented in a poster at the Society of Pediatric Dermatology annual meeting in 2008. Worldwide, a total of 15 patients having EB and with this association were identified. In this report, the mean age at diagnosis of DC was 12.18 ± 4.99 years, and 11 of them were male patients (73%). Eighty-seven percent of these 15 patients had DEB, and 13% had JEB (non-Herlitz subtype). Chronic anemia was diagnosed in 13 of 15 patients (86.7%), all requiring iron supplements. Selenium levels were abnormally low in 55% of patients (n = 11), whereas total carnitine levels were abnormal in 45% of patients at diagnosis (n = 11). Systolic function was moderately impaired, with a mean shortening fraction of 19.38% (standard deviation = 5.04, n = 8). After a mean follow-up period of 6.3 ± 4.8 years, 6 patients were alive on no medications (40.0%), 2 were alive on medications (13.3%), and 7 had died (46.7%).

Both published and unpublished data raise the potential role of micronutrient deficiencies as predisposing factors to the development of DC in patients with EB.