ArticleAmerican journal of human genetics2022
The genetic architecture of pediatric cardiomyopathy.
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Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33citing papers in PubMed
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33 citing papers in PubMed, 57 citations in OpenAlex.
- Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.Clinical genetics · 2026Article
- Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry.JACC. Heart failure · 2026Article
- Homozygous PPP1R13L Mutation Associated with Dilated Cardiomyopathy in a 1-Year-Old Child.Life (Basel, Switzerland) · 2026Article
- Pediatric heart failure: A focus on low-income countries.World journal of clinical pediatrics · 2026Review
- Abnormal Lipid Signaling Characterizes Diastolic Dysfunction in Pediatric Cardiomyopathy.JACC. Basic to translational science · 2026Article
- Knowledge graph visualization and retrospective analysis of genetic research on pediatric cardiomyopathy (2000-2024).Frontiers in cardiovascular medicine · 2026Article
- Pediatric heart failure in the era of cardio-immunology: inflammatory-immune context phenotypes, diagnosis, and targeted management.Frontiers in immunology · 2026Review
- Pediatric dilated cardiomyopathy and the progression to heart failure: mechanisms and interventions focusing on the "gene-inflammation-metabolism" axis.Frontiers in cardiovascular medicine · 2026Review
- Infantile Hypertrophic cardiomyopathy: steps towards an evidence-based approach to genetic testing.Pediatric research · 2025Article
- Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy.Journal of medical genetics · 2025Article
- Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.Scientific reports · 2025Article
- Sex-specific response to A1BG loss results in female dilated cardiomyopathy.Biology of sex differences · 2025Article
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Promising But Not Yet the Promised Land.JACC. Basic to translational science · 2025Article
- Genotype-phenotype insights of pediatric dilated cardiomyopathy.Frontiers in pediatrics · 2025Review
- Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.Genome medicine · 2024Article
- Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.European journal of medical genetics · 2024Article
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).American journal of medical genetics. Part A · 2024Article
- Cardiomyopathy-Associated Chronic Heart Failure in Infants Aged <1 Year: A Prospective Observational Cohort Over 5 Years in Northern China.Journal of the American Heart Association · 2024Observational
- Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine.Arquivos brasileiros de cardiologia · 2024Review
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Authors and funding
29 authors at 17 institutions in 2 countries.
Stephanie M WareDepartments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address: stware@iu.edu.
Surbhi BhatnagarDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Electrical Engineering and Computing Sciences, University of Cincinnati, Cincinnati, OH 45229, USA.
Phillip J DexheimerDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
James D WilkinsonDepartment of Pediatrics, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
Arthi SridharDepartments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Xiao FanDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032 USA.
Yufeng ShenDepartments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY 10032, USA.
Muhammad TariqFaculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Kingdom of Saudi Arabia.
Jeffrey A SchubertDepartments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Steven D ColanDepartment of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Ling ShiNew England Research Institutes, Watertown, MA 02472, USA.
Charles E CanterDepartment of Pediatrics, Washington University, St. Louis, MO 63110, USA.
Daphne T HsuAlbert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY 10461, USA.
Neha BansalAlbert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY 10461, USA.
Steven A WebberDepartment of Pediatrics, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.
Melanie D EverittDepartment of Pediatrics, Children's Hospital Colorado, Denver, CO 80045, USA.
Paul F KantorDepartment of Pediatrics, University of Southern California, Keck School of Medicine and Children's Hospital Los Angeles, Los Angeles, CA 90033, USA.
Joseph W RossanoChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elfriede PahlDepartment of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.
Paolo RusconiUniversity of Miami Miller School of Medicine, Miami, FL 33136, USA.
Teresa M LeeDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032 USA.
Jeffrey A TowbinDepartment of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, TN 38103, USA.
Ashwin K LalDepartment of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032 USA.
Erin M MillerDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Bruce AronowDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Lisa J MartinDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Steven E LipshultzDepartment of Pediatrics, Jacobs School of Medicine and Biomedical Sciences at University at Buffalo and John R. Oishei Children's Hospital, Buffalo, NY 14203, USA.
Pediatric Cardiomyopathy Registry Study Group
Cincinnati Children's Hospital Medical Center · USColumbia University Irving Medical Center · USIndiana University School of MedicineAlbert Einstein College of Medicine · USMonroe Carell Jr. Children's Hospital · USBoston Children's Hospital · USChildren's Hospital Colorado · USChildren's Hospital of Philadelphia · USLurie Children's Hospital · USNew England Research Institutes · USUniversity of Miami · USUniversity of Southern California · USUniversity of Tabuk · SAUniversity of Tennessee Health Science Center · USUniversity of Utah · USWashington University in St. Louis · USWomen & Children's Hospital of Buffalo · US
Funding
Genotype-Phenotype Associations in Pediatric CardiomyopathyR01HL111459 · NHLBI · WAYNE STATE UNIVERSITY · PI LIPSHULTZ, STEVEN EDWARD · 2012 to 2015
$8.6MPEDIATRIC CARDIOMYOPATHY REGISTRYR01HL053392 · NHLBI · UNIVERSITY OF ROCHESTER · PI LIPSHULTZ, STEVEN EDWARD · 1995 to 2009
$8.3MCardiac Biomarkers in Pediatric CardiomyopathyR01HL109090 · NHLBI · WAYNE STATE UNIVERSITY · PI ROSS, ROBERT D. · 2012 to 2016
$5.3MPrognostic Significance of microRNA Expression in Children with CardiomyopathyR01HL139968 · NHLBI · WAYNE STATE UNIVERSITY · PI LIPSHULTZ, STEVEN EDWARD, MIYAMOTO, SHELLEY DEANNE · 2018 to 2021
$3.3MCardiac 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
$3.2MDexrazoxane and Prevention of Anthracycline-Related CardiomyopathyR01CA211996 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI CHOW, ERIC JESSEN, LIPSHULTZ, STEVEN EDWARD · 2017 to 2020
$2.7MIdentification and functional analysis of novel infantile cardiomyopathy genesK23HL138231 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEE, TERESA M · 2017 to 2020
$738kNCI NIH HHS R01 CA211996NHLBI NIH HHS K23 HL138231NHLBI NIH HHS R01 HL053392NHLBI NIH HHS R01 HL109090NHLBI NIH HHS R01 HL111459NHLBI NIH HHS R01 HL137558NHLBI NIH HHS R01 HL139968
Abstract
To understand the genetic contribution to primary pediatric cardiomyopathy, we performed exome sequencing in a large cohort of 528 children with cardiomyopathy. Using clinical interpretation guidelines and targeting genes implicated in cardiomyopathy, we identified a genetic cause in 32% of affected individuals. Cardiomyopathy sub-phenotypes differed by ancestry, age at diagnosis, and family history. Infants < 1 year were less likely to have a molecular diagnosis (p < 0.001). Using a discovery set of 1,703 candidate genes and informatic tools, we identified rare and damaging variants in 56% of affected individuals. We see an excess burden of damaging variants in affected individuals as compared to two independent control sets, 1000 Genomes Project (p < 0.001) and SPARK parental controls (p < 1 × 10
Indexed as
ExomeGene Expression RegulationGenotypeInheritance PatternsAge of OnsetCardiomyopathy, DilatedCase-Control StudiesChildCohort StudiesExome SequencingFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenetic TestingGenetic VariationHumansancestrybioinformaticsclinical interpretationexomeheartinfantmolecular diagnosisvariant
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