Evidence map›Paper›PMID 42758059›Full record

ArticleJACC. Heart failure2026

Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry.

Elfriede Pahl, Stephanie M Ware, Ling Shi, Steven D Colan, Melanie D Everitt, Lynn A Sleeper, Arthi Sridhar, Jeffrey A Schubert, Charles E Canter, Daphne T Hsu and 15 more

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JACC. Heart failure, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01873963 (Genotype-Phenotype Associations in Pediatric Cardiomyopathy), which is not on this map. Not yet cited in PubMed.

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

NCT01873963 completednot on this map

Genotype-Phenotype Associations in Pediatric Cardiomyopathy

TypeobservationalSponsorWayne State UniversityRan2013 to 2018Enrolled544ConditionsDilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Restrictive Cardiomyopathy
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

25 authors.

Elfriede PahlNorthwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Stephanie M WareIndiana University School of Medicine, Indianapolis, Indiana, USA. Electronic address: stware@iu.edu.
Ling ShiUniversity of Massachusetts, Boston, Massachusetts, USA.
Steven D ColanDepartment of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Melanie D EverittChildren's Hospital Colorado, Aurora, Colorado, USA.
Lynn A SleeperDepartment of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Arthi SridharIndiana University School of Medicine, Indianapolis, Indiana, USA.
Jeffrey A SchubertChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Charles E CanterWashington University School of Medicine, St. Louis, Missouri, USA.
Daphne T HsuChildren's Hospital at Montefiore, Bronx, New York, USA.
Steven A WebberMonroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA.
Paul F KantorKeck School of Medicine of the University of Southern California, Children's Hospital Los Angeles, Los Angeles, California, USA.
Joseph W RossanoChildren's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Wendy K ChungDepartment of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Teresa M LeeColumbia University Medical Center, New York, New York, USA.
Jeffrey A TowbinLe Bonheur Children's Hospital, Memphis, Tennessee, USA.
Ashwin K LalUniversity of Utah, Salt Lake City, Utah, USA.
Muhammad TariqUniversity of Tabuk, Tabuk, Saudi Arabia.
Surbhi BhatnagarUniversity of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Phillip J DexheimerUniversity of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Bruce J AronowUniversity of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Lisa J MartinUniversity of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Erin M MillerUniversity of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Neha BansalHassenfeld Children's Hospital at NYU Langone Health, New York, New York, USA.
Steven E LipshultzDepartment of Pediatrics, University at Buffalo Jacobs School of Medicine and Biomedical Sciences, Buffalo, New York, USA.

Funding

PHACS - Data and Operations CenterU01HD052102 · NICHD · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI WILLIAMS, PAIGE L · 2005 to 2019
$242.7M
Zebrafish Screens for Genetic Modifiers and Human Application in T-ALLP01CA068484 · NCI · DANA-FARBER CANCER INSTITUTE · PI GILLILAND, GARY L. · 1995 to 2010
$31.9M
Pediatric HIV/AIDS Cohort Study (PHACS): Understanding Maternal HIV Disease through Pregnancy and the Postpartum Period and its Role in Child Health OutcomesU01HD052104 · NICHD · TULANE UNIVERSITY OF LOUISIANA · PI VAN DYKE, RUSSELL B. · 2005 to 2019
$15.7M
Genotype-Phenotype Associations in Pediatric CardiomyopathyR01HL111459 · NHLBI · WAYNE STATE UNIVERSITY · PI LIPSHULTZ, STEVEN EDWARD · 2012 to 2015
$8.6M
PEDIATRIC CARDIOMYOPATHY REGISTRYR01HL053392 · NHLBI · UNIVERSITY OF ROCHESTER · PI LIPSHULTZ, STEVEN EDWARD · 1995 to 2009
$8.3M
Cardiovascular Status of HAART-Exposed Infants/ChildrenR01HL072705 · NHLBI · UNIVERSITY OF ROCHESTER · PI LIPSHULTZ, STEVEN EDWARD · 2002 to 2006
$5.6M
Cardiac Biomarkers in Pediatric CardiomyopathyR01HL109090 · NHLBI · WAYNE STATE UNIVERSITY · PI ROSS, ROBERT D. · 2012 to 2016
$5.3M
TRAINING PROGRAMS IN CARDIOVASCULAR PHARMACOLOGYT32HL007188 · NHLBI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SZCZESNA-CORDARY, DANUTA · 1985 to 2011
$3.8M
Women and Infants Transmission Study IVU01AI050274 · NIAID · UNIVERSITY OF ILLINOIS AT CHICAGO · PI RICH, KENNETH C · 2001 to 2005
$3.6M
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
Cardiac Toxicity in Perinatally HIV-Infected Adolescents and Young Adults, a Longitudinal StudyR01HL137558 · NHLBI · WAYNE STATE UNIVERSITY · PI LIPSHULTZ, STEVEN EDWARD, VAN DYKE, RUSSELL B. · 2017 to 2020
$3.2M
Dexrazoxane and Prevention of Anthracycline-Related CardiomyopathyR01CA211996 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI CHOW, ERIC JESSEN, LIPSHULTZ, STEVEN EDWARD · 2017 to 2020
$2.7M
NCI NIH HHS P01 CA068484NCI NIH HHS R01 CA127642NCI NIH HHS R01 CA211996NHLBI NIH HHS F31 HL094100NHLBI NIH HHS K30 HL004537NHLBI NIH HHS R01 HL053392NHLBI NIH HHS R01 HL072705NHLBI NIH HHS R01 HL078522NHLBI NIH HHS R01 HL087000NHLBI NIH HHS R01 HL095127NHLBI NIH HHS R01 HL109090NHLBI NIH HHS R01 HL111459NHLBI NIH HHS R01 HL137558NHLBI NIH HHS R01 HL139968NHLBI NIH HHS R13 HL087708NHLBI NIH HHS T32 HL007188NIAID NIH HHS U01 AI050274NICHD NIH HHS U01 HD052102NICHD NIH HHS U01 HD052104
6 · The paper itself

Abstract

backgroundGenotype-phenotype correlations in pediatric hypertrophic cardiomyopathy (HCM) are not well established. Determining whether specific genes or variants correlate with disease severity may impact clinical care.

objectivesThis study aims to identify associations between pathogenic genetic variants in pediatric HCM and echocardiographic maximal left ventricular wall thickness.

methodsChildren with primary HCM from pediatric cardiomyopathy centers were recruited for research-based exome sequencing. Associations between genetic findings, imaging, and clinical outcomes were assessed. Genetic variants in established HCM genes were classified according to established guidelines. Left ventricular hypertrophy (LVH) at enrollment was classified as mild (z-score <12), moderate (z-score ≥12), or severe (z-score ≥17) based on LV septal or posterior wall thickness z-scores measured by a core echocardiography laboratory.

resultsSeverity of LVH was determined in 143 children with adequate echocardiograms. The median age at enrollment was 11.5 years (range: 3.8-14.4 years). Overall, 51% had a pathogenic variant, of which 93% were in sarcomeric genes. Children with severe LVH (n = 40, 28%) were diagnosed at younger ages than those with mild LVH (n = 78, 55%) at a median of 6.4 vs 12.9 years, P = 0.005. Those with severe LVH were more likely to have pathogenic variants; this association was driven by variants in MYBPC3 (OR: 4.1; 95% CI: 1.7-9.9). Missense variants in MYBPC3 predominated over stop, insertion-deletion, or splicing variants in severe cases.

conclusionsIn this population of children with primary HCM, severe LVH was associated with a younger age at enrollment and a higher likelihood of harboring a pathogenic variant in MYBPC3. (Genotype-Phenotype Associations in Pediatric Cardiomyopathy [PCM GENES]; NCT01873963).

Indexed as

genetic variantgenotypingnonsyndromic hypertrophic cardiomyopathyprimary cardiomyopathyseptal hypertrophy

Identifiers

PMID42758059
PMCPMC13592512

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.