Evidence map›Paper›PMID 42385441›Full record

ArticleJACC. Basic to translational science2026

A Preventable Congenital Heart Malformation Syndrome Caused by a Mutation in the Glycolytic Gene PFKP.

Siyao Zhang, Hairui Sun, Xu Zhi, Xiaoyan Hao, Jiaqi Fan, Hongmei Xia, Ruimin Liu, Taoyan Liu, Pengyun Gong, Tong Yi and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Basic to translational science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. A Glycolytic Gatekeeper in Developmental Cardiomyopathy.JACC. Basic to translational science · 2026
    Article
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

20 authors.

Siyao ZhangMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Beijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China.
Hairui SunMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Beijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China; Cardiovascular Basic and Translational Medicine Center, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China.
Xu ZhiState Key Laboratory of Female Fertility Promotion, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China; National Clinical Research Center for Obstetrics and Gynecology, Beijing, China; Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, China; National Clinical Key Specialty Construction Program, P. R. China (2023), Beijing, China.
Xiaoyan HaoMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Beijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China.
Jiaqi FanMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China.
Hongmei XiaDepartment of Ultrasound, Xinqiao Hospital, Army Medical University, Chongqing, China.
Ruimin LiuMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Beijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China.
Taoyan LiuInstitute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, China.
Pengyun GongMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Beijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China.
Tong YiMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China.
Ye ZhangMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China.
Xiaoyan GuMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China.
Jiancheng HanMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China.
Xiaowei LiDepartment of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Hankui LiuBGI-Genomics, BGI-Shenzhen, Shenzhen, China.
LiYing YanCardiovascular Basic and Translational Medicine Center, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China; State Key Laboratory of Female Fertility Promotion, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China; National Clinical Research Center for Obstetrics and Gynecology, Beijing, China; Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, China.
Feng LanBeijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; MOE Key Laboratory of Biomedical Engineering for Cardiovascular Disease Research, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Hongjia ZhangBeijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China; Department of Cardiovascular Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Jie QiaoCardiovascular Basic and Translational Medicine Center, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China; State Key Laboratory of Female Fertility Promotion, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China; National Clinical Research Center for Obstetrics and Gynecology, Beijing, China; Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education, Beijing, China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, China; Beijing Advanced Innovation Center for Genomics, Beijing, China; Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China. Electronic address: jie.qiao@263.net.
Yihua HeMaternal-Fetal Medicine Center in Fetal Heart Disease, Capital Medical University, Beijing Anzhen Hospital, Beijing, China; Beijing Lab for Cardiovascular Precision Medicine, Capital Medical University, Beijing, China; Laboratory of Basic and Clinical Medicine, Capital Medical University, Beijing, China. Electronic address: heyihua0503@mail.ccmu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study reports a congenital heart disease, characterized by ventricular wall thinning and septal defects, caused by a heterozygous missense mutation (R755 W) in the glycolytic gene PFKP (platelet isoform of phosphofructokinase-1). The pathogenic mechanism involves the PFKP mutation impairing enzyme activity, which inhibits cardiomyocyte proliferation and leads to the thinning of the compact myocardium. In the mouse model, we found that administering the downstream metabolite, fructose-1,6-bisphosphate, reversed the myocardial hypoplasia in fetal mice, providing proof-of-concept for in utero intervention. Clinically, we successfully prevented the transmission of the disease using preimplantation genetic testing, resulting in the birth of a healthy infant.

Indexed as

cardiomyocyte proliferationcongenital heart diseaseglycolysismyocardial developmentPFKP

Identifiers

PMID42385441
PMCPMC13352075

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 Socratic graph.