Evidence map›Paper›PMID 41440845›Full record

ArticleJournal of cardiovascular development and disease2025

Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.

Guofeng Xing, Li Chen, Lizhi Lv, Guanyi Xu, Yabing Duan, Jiachen Li, Xiaoyan Li, Qiang Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of cardiovascular development and disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Guofeng XingDepartment of Pediatric Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Li ChenDepartment of Pediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Lizhi LvDepartment of Pediatric Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Guanyi XuDepartment of Pediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Yabing DuanDepartment of Pediatric Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Jiachen LiDepartment of Pediatric Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Xiaoyan LiBeijing Institution of Heart Lung and Blood Vassal Diseases, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.
Qiang WangDepartment of Pediatric Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Street, Chaoyang District, Beijing 100029, China.

Funding

Capital's Funds for Health Improvement and Research CRF-2024-1-2062Noncommunicable Chronic Diseases-National Science and Technology Major Project 2023ZD0514400Science and Technology Innovation Fund-Major Science and Technology Innovation Research and Development Special Project KCZD202202
6 · The paper itself

Abstract

This study examines pediatric cardiomyopathies by analyzing genetic and clinical data from 55 patients (2021-2024) at Beijing Anzhen Hospital. Four subtypes were studied: dilated (DCM, 24), hypertrophic (HCM, 22), arrhythmogenic right ventricular (ARVC, 7), and restrictive (RCM, 2). Clinical data, imaging, labs, and family histories were collected, with whole-exome sequencing (WES) identifying disease-causing variants classified via ACMG guidelines. Statistical analysis revealed a median age of 11 years, a proportion of 58% male participants, and ethnic diversity (21 northern Han, 29 southern Han, 5 minorities). In the cohort, 13 cases had an LVEF below 35%. Pathogenic/likely pathogenic (P/LP) variants were found in 21.8% of the patients, and variants of uncertain significance (VUS) were present in 38.2%, with

Indexed as

cardiomyopathiesgenotype–phenotype correlationpediatricWSE

Identifiers

PMID41440845
PMCPMC12733931

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.