Evidence map›Paper›PMID 35614389›Full record

ArticleBMC cardiovascular disorders2022

Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases.

Min Zheng, Hong Huang, Xu Zhu, Harvey Ho, Liling Li, Xiaojuan Ji

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC cardiovascular disorders, 2022. 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
0.3field-weighted citation impact, top 41% of its field
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, 2 citations in OpenAlex.

  1. 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

6 authors at 2 institutions in 2 countries.

Min Zheng *Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China.
Hong Huang *Pediatric Department, North-Kuanren General Hospital of Chongqing, Chongqing, 401121, China.
Xu ZhuChildren's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China.
Harvey HoAuckland Bioengineering Institute, The University of Auckland, Private Bag 92019, Auckland, 1142, New Zealand.
Liling LiChildren's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China.
Xiaojuan JiChildren's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, 136 Zhongshan 2nd Road, Yu Zhong District, Chongqing, 400014, China. jixiaojuan@hospital.cqmu.edu.cn.
China International Science and Technology Cooperation · CNUniversity of Auckland · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRestrictive cardiomyopathy (RCM) presents a high risk for sudden cardiac death in pediatric patients. Constrictive pericarditis (CP) exhibits a similar clinical presentation to RCM and requires differential diagnosis. While mutations of genes that encode sarcomeric and cytoskeletal proteins may lead to RCM, infection, rather than gene mutation, is the main cause of CP. Genetic testing may be helpful in the clinical diagnosis of RCM.

methodsIn this case series study, we screened for TNNI3, TNNT2, and DES gene mutations that are known to be etiologically linked to RCM in four pediatric patients with suspected RCM.

resultsWe identified one novel heterozygous mutation, c.517C>T (substitution, position 517 C → T) (amino acid conversion, p.Leu173Phe), and two already known heterozygous mutations, c.508C>T (substitution, position 508, C → T) (amino acid conversion, p.Arg170Trp) and c.575G>A (substitution, position 575, G → A) (amino acid conversion, p.Arg192His), in the TNNI3 gene in three of the four patients.

conclusionOur findings support the notion that genetic testing may be helpful in the clinical diagnosis of RCM.

Indexed as

Cardiomyopathy, RestrictiveGenetic TestingPericarditis, ConstrictiveAmino AcidsChildDesminHumansMutationTroponin ITroponin TAmino AcidsDesminTroponin ITroponin TConstrictive pericarditisMutationRestrictive cardiomyopathyTNNI3

Identifiers

PMID35614389
PMCPMC9131548
OpenAlexW4281478374

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.