Dilated Cardiomyopathy in Pediatric Patients with Dystrophic Epidermolysis Bullosa: Retrospective, Cross-Sectional (Registry) Study
Year: 2025
Type: article
Abstract: Background. One of the most severe forms of epidermolysis bullosa (EB) is its dystrophic form (DEB). This disease is caused by mutations in the COL7A1 gene, leading to skin fragility and blistering, it is characterized typically by severe course of skin lesions and systemic manifestations. One of the challenging systemic complications in patients with DEB is dilated cardiomyopathy (DCM) aggravating DEB clinical course and significantly affecting morbidity and mortality. However, there is no data on any correlation between DEB severity and anthropometric, osteodensimetry, and laboratory results, as well as with echocardiography (EchoCG) parameters among children with EB in Russian Federation. Objective. The aim of the study is to analyze the clinical and laboratory profile of patients with DEB and DCM, as well as to identify possible markers associated with high disease severity and risk of mortality in children with DEB in Russian Federation. Methods. The severity of EB course via Birmingham Epidermolysis Bullosa Severity score (BEBS) (from 15.0 to 64.0); anthropometric measures (WAZ, HAZ, BAZ) and bone mineral density status (BMD, Z-score); laboratory parameters (hemoglobin, ferritin, albumin, iron, vitamin D, etc.); EchoCG parameters (ejection fraction (EF), cardiac chambers dimensions, regurgitation); presence of comorbidities and lethal outcomes were evaluated. Results. 491 children with EB were registered in Russian Federation according to the data from the “Register of genetic and other rare diseases” of charitable foundation “BELA. Butterfly Children” as at 2025. There is data on 7 patients (4 girls and 3 boys) with severe DEB and comorbid DCM. Patients’ age was from 4 to 17 years (mean age 13.4 ± 5.1 years). Higher BEBS values (> 50) were associated with severe weight deficit (BAZ < –5), low bone mineral density (Z-score up to –5.3), severe anemia (Hb < 90 g/L), and severe myocardial changes (reduced EF, dilated chambers, multiple regurgitations). 3 girls out of these 7 patients died. They had maximum BEBS score ( 46), severe malnutrition, and the most significant changes according to EchoCG. Conclusion. DEB severity (according to BEBS) has negative correlation with anthropometric and osteodensimetry parameters (WAZ, BAZ, Z-score) and is directly related to the risk of severe cardiomyopathy and death. All patients suffering from EB with suspected DCM require complex management, including nutritional support, anemia correction, vitamin D replacement, and regular cardiac monitoring.
Source: Вопросы современной педиатрии
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4414352118