Evidence map›Paper›PMID 36058060›Full record

ReviewCurrent opinion in genetics & development2022

From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.

Minu-Tshyeto K Bidzimou, Andrew P Landstrom

Open access · greenAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025
    Review
  5. Review
  6. Article
  7. Review
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

2 authors at 1 institution in 1 country.

Minu-Tshyeto K BidzimouDepartment of Cell Biology, Duke University School of Medicine, Durham, NC, United States. Electronic address: https://twitter.com/@MBidzimou.
Andrew P LandstromDepartment of Cell Biology, Duke University School of Medicine, Durham, NC, United States; Department of Pediatrics, Division of Pediatric Cardiology, Duke University School of Medicine, Durham, NC, United States. Electronic address: andrew.landstrom@duke.edu.
Duke University · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007171 · NIGMS · DUKE UNIVERSITY · PI KONTOS, CHRISTOPHER D · 1985 to 2021
$31.2M
Medical Scientist Training Program Training GrantT32GM145449 · NIGMS · DUKE UNIVERSITY · PI Christopher D Kontos · 2022 to 2026
$6.6M
The Role of PRDM16 in Cardiac Development and CardiomyopathyR01HL149870 · NHLBI · UNIVERSITY OF UTAH · PI BOUDINA, SIHEM · 2020 to 2023
$2.8M
Engineered BacNav and BacCav for Improved Excitability and ContractionR01EB032726 · NIBIB · DUKE UNIVERSITY · PI BURSAC, NENAD · 2022 to 2025
$1.9M
The Role of Junctophilin Type 2 in Cardiac Node AutomaticityK08HL136839 · NHLBI · DUKE UNIVERSITY · PI LANDSTROM, ANDREW P. · 2017 to 2021
$769k
NHLBI NIH HHS K08 HL136839NHLBI NIH HHS R01 HL149870NIBIB NIH HHS R01 EB032726NIGMS NIH HHS T32 GM007171NIGMS NIH HHS T32 GM145449
6 · The paper itself

Abstract

Pediatric sudden cardiac death (SCD) is the sudden unexpected death of a child or adolescent due to a presumed cardiac etiology. Heritable causes of pediatric SCD are predominantly cardiomyopathies and cardiac ion channelopathies. This review illustrates recent advances in determining the genetic cause of established and emerging channelopathies and cardiomyopathies, and how broader genomic sequencing is uncovering complex interactions between genetic architecture and disease manifestation. We discuss innovative models and experimental platforms for resolving the variant of uncertain significance as both the variants and genes associated with disease continue to evolve. Finally, we highlight the growing problem of incidentally identified variants in cardiovascular disease-causing genes and review innovative methods to determining whether these variants may ultimately result in penetrant disease. Overall, we seek to illustrate both the promise and inherent challenges in bridging the traditional role for genetics in diagnosing cardiomyopathies and channelopathies to one of true risk-predictive precision medicine.

Indexed as

CardiomyopathiesChannelopathiesAdolescentChildDeath, Sudden, CardiacDiagnostic Techniques and ProceduresGenetic TestingGenomicsHumansPrecision Medicine

Identifiers

PMID36058060
PMCPMC9733798
OpenAlexW4294216093

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.