Key result
Pathogenic KLHL24 mutation triggers severe dilated cardiomyopathy in epidermolysis bullosa simplex requiring heart transplantation.
Why the study?
The co-occurrence of epidermolysis bullosa simplex and dilated cardiomyopathy is rare, with emerging recognition of genotype-associated cardiac involvement such as KLHL24 start-codon variants.
Case Report (n=1)
This case report highlights the association between the KLHL24 start-codon variant in epidermolysis bullosa simplex and severe dilated cardiomyopathy requiring heart transplantation, emphasizing the need for structured cardiac surveillance in high-risk genodermatoses.
Answers are grounded in this paper and cite their sources.
Supports cardiac surveillance in KLHL24 epidermolysis bullosa simplex; leaves open need for prospective validation of risk and screening.
We report a 16-year-old male with a known diagnosis of epidermolysis bullosa simplex (EBS) who developed a rapidly progressive dilated cardiomyopathy (DCM). Initially, he presented with gastrointestinal symptoms and was incidentally found to have severe biventricular systolic (left ventricular ejection fraction of 13%) and severe functional mitral regurgitation. Despite initial stabilization and guideline-directed medical therapy, he developed cardiogenic shock requiring inotropic support and intensive care management. Given the rarity and co-occurrence of EBS and DCM, potential underlying genetic correlations were considered. Genetic review confirmed a pathogenic heterozygous KLHL24 start-codon variant, a mutation increasingly associated with cardiomyopathy in EBS. Due to refractory heart failure, he underwent successful orthotopic heart transplantation. This case highlights the emerging recognition of genotype-associated cardiac involvement in EBS and underscores the importance of structured cardiac surveillance in high-risk genodermatoses.
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Haider et al. (2026) conducted a case report in Dilated cardiomyopathy in epidermolysis bullosa simplex (n=1). Orthotopic heart transplantation was evaluated on Successful orthotopic heart transplantation. A pathogenic KLHL24 start-codon variant in a 16-year-old male with epidermolysis bullosa simplex led to severe dilated cardiomyopathy (LVEF 13%) requiring orthotopic heart transplantation.
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