Evidence map›Paper›PMID 42428486›Full record

ArticleFrontiers in cardiovascular medicine2026

Case Report: A novel MYBPC3 gene variant in a Chinese patient with hypertrophic cardiomyopathy and apical ventricular aneurysm, with a concurrent novel KCNJ5 gene variant.

Shan Han, Ying-Yi Zhang, Jie Geng

Abstract readCase Reports
In one paragraph

Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Shan HanDepartment of Cardiology, Chest Hospital, Tianjin University, Tianjin, China.
Ying-Yi ZhangDepartment of Cardiology, Chest Hospital, Tianjin University, Tianjin, China.
Jie GengDepartment of Cardiology, Chest Hospital, Tianjin University, Tianjin, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant primary myocardial disease, primarily caused by pathogenic variants in genes encoding sarcomere-associated proteins. Among these, the cardiac myosin-binding protein C (MYBPC3) gene and the MYH7 gene are the two most common causative genes in patients with HCM, accounting for approximately 70% of cases with positive genetic variants. In patients with HCM, left ventricular aneurysm has been reported in fewer than 5% of cases in the absence of coronary artery disease. Variants in the KCNJ5 gene often lead to familial hyperaldosteronism type III and long QT syndrome type 13. Here, we report a rare case of HCM complicated by an apical ventricular aneurysm, accompanied by novel mutations in MYBPC3 and KCNJ5. This rare case, featuring two novel genetic variants, will help expand research on the genotype-phenotype relationship in hypertrophic cardiomyopathy.

Indexed as

apical ventricular aneurysmcase reporthypertrophic cardiomyopathyKCNJ5 gene variantMYBPC3 gene variant

Identifiers

PMID42428486
PMCPMC13345877

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