ArticleJACC. Case reports2026
KLHL24-Associated Hypertrophic Cardiomyopathy: When Genotype Outpaces Phenotype.
Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Biallelic KLHL24 Loss-of-Function Variants: Emerging Evidence for Early-Onset Arrhythmias and Hypertrophic Cardiomyopathy.JACC. Case reports · 2026Article
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Authors and funding
4 authors.
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Abstract
backgroundKLHL24 (Kelch-like family member 24)-associated hypertrophic cardiomyopathy (HCM) is a recently recognized genetic disorder characterized by early presentation and a disproportionate risk of malignant ventricular arrhythmias due to impaired cytoskeletal protein turnover. CASE SUMMARY: A 16-year-old asymptomatic young man without a family history of HCM was evaluated after detection of a cardiac murmur. Imaging revealed asymmetric septal hypertrophy with minimal fibrosis and preserved systolic function. Genetic testing identified compound heterozygous truncating KLHL24 variants. Despite low conventional risk markers, genotype-directed assessment indicated high arrhythmic risk, prompting prophylactic implantable cardioverter-defibrillator (ICD) placement. The patient remained clinically stable at follow-up. DISCUSSION: This case illustrates the limitations of phenotype-based risk stratification and highlights the importance of genotype-informed decision-making in arrhythmogenic cardiomyopathies. TAKE-HOME MESSAGES: KLHL24-associated HCM is uniquely arrhythmogenic, with malignant ventricular arrhythmias potentially preceding structural severity. Early genetic testing enables genotype-guided preventive strategies, including timely prophylactic ICD implantation, even in apparently low-risk phenotypes.
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