Evidence map›Paper›PMID 38714589›Full record

ArticlePediatric cardiology2025

Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.

Justin Godown, Emily H Kim, Melanie D Everitt, Wendy K Chung, Irene D Lytrivi, Sonya Kirmani, Paul F Kantor, Stephanie M Ware, Jean A Ballweg, Ashwin K Lal and 4 more

Abstract read
In one paragraph

Article in Pediatric cardiology, 2025. 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. 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

14 authors.

Justin GodownDivision of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.
Emily H KimDivision of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.
Melanie D EverittDepartment of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Irene D LytriviDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Sonya KirmaniDepartment of Pediatrics, University of Wisconsin School of Medicine, Madison, WI, USA.
Paul F KantorDepartment of Pediatrics, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Stephanie M WareDepartment of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Jean A BallwegDepartment of Pediatrics, Helen DeVos Children's Hospital, Grand Rapids, MI, USA.
Ashwin K LalDivision of Pediatric Cardiology, University of Utah, Primary Children's Hospital, Salt Lake City, Utah, USA.
Neha BansalDivision of Pediatric Cardiology, Mount Sinai Kravis Children's Hospital, New York, NY, USA.
Jeffrey TowbinHeart Institute, Le Bonheur Children's Hospital, Memphis, TN, USA.
Steven E LipshultzDepartment of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, Clinical and Translational Research Center, University at Buffalo, 875 Ellicott Street, Suite 5018, Buffalo, NY, 14203, USA. slipshul@buffalo.edu.
Teresa M LeeDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.

Funding

PEDIATRIC CARDIOMYOPATHY REGISTRYR01HL053392 · NHLBI · UNIVERSITY OF ROCHESTER · PI LIPSHULTZ, STEVEN EDWARD · 1995 to 2009
$8.3M
Prognostic Significance of microRNA Expression in Children with CardiomyopathyR01HL139968 · NHLBI · WAYNE STATE UNIVERSITY · PI LIPSHULTZ, STEVEN EDWARD, MIYAMOTO, SHELLEY DEANNE · 2018 to 2021
$3.3M
NHLBI NIH HHS HL53392NHLBI NIH HHS R01 HL053392NHLBI NIH HHS R01 HL139968NIH HHS HL139968
6 · The paper itself

Abstract

The use of genetic testing has enhanced the diagnostic accuracy of heritable genetic cardiomyopathies. However, it remains unclear how genetic information is interpreted and incorporated into clinical practice for children with cardiomyopathy. The primary aim of this study was to understand how clinical practice differs regarding sequence variant classifications amongst pediatric cardiologists who treat children with cardiomyopathy. A secondary aim was to understand the availability of genetic testing and counseling resources across participating pediatric cardiomyopathy programs. An electronic survey was distributed to pediatric heart failure, cardiomyopathy, or heart transplantation physicians between August and September 2022. A total of 106 individual providers from 68 unique centers responded to the survey. Resources for genetic testing and genetic counseling vary among large pediatric cardiomyopathy programs. A minority of centers reported having a geneticist (N = 16, 23.5%) or a genetic counselor (N = 21, 31%) on faculty within the division of pediatric cardiology. A total of 9 centers reported having both (13%). Few centers (N = 13, 19%) have a formal process in place to re-engage patients who were previously discharged from cardiology follow-up if variant reclassification would alter clinical management. Clinical practice patterns were uniform in response to pathogenic or likely pathogenic variants but were more variable for variants of uncertain significance. Efforts to better incorporate genetic expertise and resources into the clinical practice of pediatric cardiomyopathy may help to standardize the interpretation of genetic information and better inform clinical decision-making surrounding heritable cardiomyopathies.

Indexed as

CardiomyopathiesGenetic CounselingGenetic TestingPractice Patterns, Physicians'ChildHumansSurveys and QuestionnairesUnited StatesCardiomyopathyGenetic counselingGenetic testingPediatrics

Identifiers

PMID38714589
PMCPMC11903623

What Socratic holds

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LicenceCC BY
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.