What are the clinical outcomes in patients with KLHL24 cardiomyopathy?
This meta-analysis aims to summarize clinical outcomes in patients with KLHL24 cardiomyopathy, a genetic condition associated with both dilated and hypertrophic cardiomyopathy depending on the specific variant.
Pathogenic variants in Kelch-like family member 24 (as a new cause for skin fragility KLHL24; NM₀17644. 3) were recently identified and cardiomyopathy. KLHL24 is part of a ubiquitin-ligase complex and mediates substrate recognition of intermediate filaments for proteasomal degradation (ie, keratins, 1, 2 vimentin, 2 and desmin3, 4). Several studies have shown that patients with heterozygous gain-of-function variants (HET-GOF), typically born with epidermolysis bullosa simplex, 1, 2 can develop dilated cardiomyopathy (DCM) with desmin-deficiency. 3 Meanwhile, hypertrophic cardiomyopathy (HCM) with desmin-overload has been determined in patients with homozygous loss-of-function variants (HOM-LOF). 4 This meta-analysis aims to summarize the findings of previous patient studies to determine the clinical outcome in KLHL24 cardiomyopathy.
Vermeer et al. (Tue,) studied this question.