Evidence map›Paper›PMID 37767697›Full record

ArticleCirculation. Genomic and precision medicine2023

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.

Yuri Kim, Oddný Brattberg Gunnarsdóttir, Anissa Viveiros, Daniel Reichart, Daniel Quiat, Jon A L Willcox, Hao Zhang, Huachen Chen, Justin J Curran, Daniel H Kim and 7 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

5 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. 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

17 authors at 7 institutions in 5 countries.

Yuri KimDivision of Cardiovascular Medicine, Brigham and Women's Hospital (Y.K., B.M., C.E.S.).ORCID 0000-0001-5978-5779
Oddný Brattberg GunnarsdóttirDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).ORCID 0000-0002-7625-0976
Anissa ViveirosDepartment of Medicine (A.V., H.Z., H.C., D.H.K., G.Y.O.), University of Alberta.
Daniel ReichartDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).
Daniel QuiatDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).ORCID 0000-0002-4224-7277
Jon A L WillcoxDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).ORCID 0000-0002-3782-4770
Hao ZhangDepartment of Medicine (A.V., H.Z., H.C., D.H.K., G.Y.O.), University of Alberta.
Huachen ChenDepartment of Medicine (A.V., H.Z., H.C., D.H.K., G.Y.O.), University of Alberta.
Justin J CurranDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).
Daniel H KimDepartment of Medicine (A.V., H.Z., H.C., D.H.K., G.Y.O.), University of Alberta.ORCID 0000-0001-9673-5631
Simon UrschelDepartment of Pediatrics (S.U.), University of Alberta.
Barbara McDonoughDivision of Cardiovascular Medicine, Brigham and Women's Hospital (Y.K., B.M., C.E.S.).ORCID 0000-0002-4257-8623
Joshua GorhamDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).ORCID 0000-0001-5969-4690
Steven R DePalmaDepartment of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).ORCID 0000-0002-0381-5016
Jonathan G Seidman *Department of Genetics, Harvard Medical School, Boston, MA (Y.K., O.B.G., D.R., D.Q., J.A.L.W., J.J.C., J.G., S.R.D., J.G.S., C.E.S.).ORCID 0000-0002-9082-3566
Christine E Seidman *Division of Cardiovascular Medicine, Brigham and Women's Hospital (Y.K., B.M., C.E.S.).ORCID 0000-0001-6380-1209
Gavin Y Oudit *Department of Medicine (A.V., H.Z., H.C., D.H.K., G.Y.O.), University of Alberta.ORCID 0000-0002-9154-9028
Capital District Health Authority · CAJacobson Holman (United States) · USBrigham and Women's Hospital · USHarvard University · USBoston Children's Hospital · USHoward Hughes Medical Institute · USUniversity of Alberta · CA

Funding

RESEARCH METHODS IN PEDIATRICS HEART DISEASET32HL007572 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI Sarah D DE FERRANTI, Jane W. Newburger · 1985 to 2026
$13.0M
Defining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4M
Institutional Career Development CoreKL2TR002542 · NCATS · HARVARD MEDICAL SCHOOL · PI BREDELLA, MIRIAM ANTOINETTE, RUTKOVE, SEWARD B. · 2018 to 2022
$8.7M
Molecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9M
Development of strategies to enhance titin (TTN) expression and treat dilated cardiomyopathy caused by TTN haploinsufficiencyK08HL164885 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI Yuri Kim · 2023 to 2026
$676k
Howard Hughes Medical InstituteNCATS NIH HHS KL2 TR002542NHLBI NIH HHS K08 HL164885NHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553NHLBI NIH HHS T32 HL007572
6 · The paper itself

Abstract

backgroundMany cardiovascular disorders propel the development of advanced heart failure that necessitates cardiac transplantation. When treatable causes are excluded, studies to define causes are often abandoned, resulting in a diagnosis of end-stage idiopathic cardiomyopathy. We studied whether DNA sequence analyses could identify unrecognized causes of end-stage nonischemic cardiomyopathy requiring heart transplantation and whether the prevalence of genetic causes differed from ambulatory cardiomyopathy cases.

methodsWe performed whole exome and genome sequencing of 122 explanted hearts from 101 adult and 21 pediatric patients with idiopathic cardiomyopathy from a single center. Data were analyzed for pathogenic/likely pathogenic variants in nuclear and mitochondrial genomes and assessed for nonhuman microbial sequences. The frequency of damaging genetic variants was compared among cardiomyopathy cohorts with different clinical severity.

resultsFifty-four samples (44.3%) had pathogenic/likely pathogenic cardiomyopathy gene variants. The frequency of pathogenic variants was similar in pediatric (42.9%) and adult (43.6%) samples, but the distribution of mutated genes differed (

conclusionsPathogenic variants and viral myocarditis were identified in 45.9% of patients with unexplained end-stage cardiomyopathy. Damaging gene variants are significantly more frequent among transplant compared with patients with ambulatory cardiomyopathy. Genetic analyses can help define cause of end-stage cardiomyopathy to guide management and risk stratification of patients and family members.

Indexed as

CardiomyopathiesCardiomyopathy, DilatedHeart FailureHeart TransplantationAdultChildHumanscardiomyopathiesgeneticsheart failuretransplantationwhole exome sequencingwhole genome sequencing

Identifiers

PMID37767697
PMCPMC10715239
OpenAlexW4387115180

What OpenQuestion holds

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Registered trials

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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.