Evidence map›Paper›PMID 34228484›Full record

ArticleCirculation. Genomic and precision medicine2021

Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis.

Amy R Kontorovich, Yingying Tang, Nihir Patel, Zhanna Georgievskaya, Mariya Shadrina, Nori Williams, Arden Moscati, Inga Peter, Yuval Itan, Barbara Sampson and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Genomics of pediatric cardiomyopathy.Pediatric research · 2025
    Review
  5. Review
  6. Article
  7. Review
  8. 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

11 authors at 4 institutions in 1 country.

Amy R Kontorovich *Zena and Michael A. Weiner Cardiovascular Institute (A.R.K.), Icahn School of Medicine at Mount Sinai, New York.
Yingying Tang *Office of the Chief Medical Examiner of New York, New York, NY (Y.T., Z.G., N.W., B.S.).
Nihir PatelThe Mindich Child Health and Development Institute (A.R.K., N.P., M.S., Y.I., B.D.G.), Icahn School of Medicine at Mount Sinai, New York.
Zhanna GeorgievskayaOffice of the Chief Medical Examiner of New York, New York, NY (Y.T., Z.G., N.W., B.S.).
Mariya ShadrinaThe Mindich Child Health and Development Institute (A.R.K., N.P., M.S., Y.I., B.D.G.), Icahn School of Medicine at Mount Sinai, New York.
Nori WilliamsOffice of the Chief Medical Examiner of New York, New York, NY (Y.T., Z.G., N.W., B.S.).
Arden MoscatiDepartment of Genetics & Genomic Sciences (A.M., I.P., Y.I., B.D.G.), Icahn School of Medicine at Mount Sinai, New York.
Inga PeterDepartment of Genetics & Genomic Sciences (A.M., I.P., Y.I., B.D.G.), Icahn School of Medicine at Mount Sinai, New York.
Yuval ItanThe Mindich Child Health and Development Institute (A.R.K., N.P., M.S., Y.I., B.D.G.), Icahn School of Medicine at Mount Sinai, New York.
Barbara Sampson *Office of the Chief Medical Examiner of New York, New York, NY (Y.T., Z.G., N.W., B.S.).
Bruce D Gelb *The Mindich Child Health and Development Institute (A.R.K., N.P., M.S., Y.I., B.D.G.), Icahn School of Medicine at Mount Sinai, New York.
Child Health and Development Institute · USOffice of Chief Medical Examiner · USIcahn School of Medicine at Mount Sinai · USMount Sinai Health System · US

Funding

Pediatric Heart Disease: Getting from Mutations to TherapeuticsR35HL135742 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2017 to 2023
$6.1M
Big Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M
Elucidation of the role of human genetic factors underlying viral myocarditis susceptibilityK23HL140083 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KONTOROVICH, AMY R. · 2018 to 2022
$952k
NHLBI NIH HHS K23 HL140083NHLBI NIH HHS R35 HL135742NIH HHS S10 OD026880
6 · The paper itself

Abstract

backgroundAcute myocarditis (AM) is a well-known cause of sudden death and heart failure, often caused by prevalent viruses. We previously showed that some pediatric AM correlates with putatively damaging variants in genes related to cardiomyocyte structure and function. We sought to evaluate whether deleterious cardiomyopathic variants were enriched among fatal pediatric AM cases in New York City compared with ancestry-matched controls.

methodsTwenty-four children (aged 3 weeks to 20 years) with death due to AM were identified through autopsy records; histologies were reviewed to confirm that all cases met Dallas criteria for AM and targeted panel sequencing of 57 cardiomyopathic genes was performed. Controls without cardiovascular disease were identified from a pediatric database and matched by genetic ancestry to cases using principal components from exome sequencing. Rates of putative deleterious variations (DV) were compared between cases and controls. Where available, AM tissues underwent viral analysis by polymerase chain reaction.

resultsDV were identified in 4 of 24 AM cases (16.7%), compared with 2 of 96 age and ancestry-matched controls (2.1%,

conclusionsDeleterious variants in genes related to cardiomyocyte integrity are more common in children with fatal AM than controls, likely conferring susceptibility. Additionally, genetically mediated AM may progress more rapidly and be more severe.

Indexed as

Databases, Nucleic AcidGenetic VariationAdultChildChild, PreschoolFemaleHumansInfantInfant, NewbornMaleMyocarditisNew York Citycardiomyopathiescardiovascular diseasegenetic variationinflammationmyocarditis

Identifiers

PMID34228484
PMCPMC8373803
OpenAlexW3180076313

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.