Evidence map›Paper›PMID 33874732›Full record

ArticleCirculation2021

Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.

Rahul Goli, Jian Li, Jeff Brandimarto, Lisa D Levine, Valerie Riis, Quentin McAfee, Steven DePalma, Alireza Haghighi, J G Seidman, Christine E Seidman and 22 more

Open access · bronzeAbstract read
In one paragraph

Article in Circulation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 3 pooled it
16.6field-weighted citation impact, top 1% 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

93 citing papers in PubMed, 3 syntheses or guidelines pooled it, 167 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Article
  6. Women's heart and echocardiography.Journal of cardiovascular imaging · 2026
    Review
  7. Transcriptomic Analysis ofInternational journal of molecular sciences · 2026
    Article
  8. Transcriptomic Analysis ofbioRxiv : the preprint server for biology · 2026
    Article
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  18. Observational
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33 more citing papers are in PubMed but not listed here.

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

32 authors at 19 institutions in 7 countries.

Rahul GoliCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Jian LiCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Jeff BrandimartoCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Lisa D LevineMaternal and Child Health Research Center, Department of Obstetrics and Gynecology (L.D.L., V.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Valerie RiisMaternal and Child Health Research Center, Department of Obstetrics and Gynecology (L.D.L., V.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Quentin McAfeeCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Steven DePalmaDepartment of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
Alireza HaghighiDepartment of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
J G SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
Daniel JacobyYale School of Medicine, Section of Cardiovascular Medicine, New Haven, CT (D.J.).
George MaconesDepartment of Women's Health, Dell Medical School- University of Texas Austin (G.M.).
Daniel P JudgeMedical University of South Carolina, Charleston (D.P.J.).
Sarosh RanaDivision of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Chicago, IL (S.R.).
Kenneth B MarguliesCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Thomas P CappolaCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Rami AlharethiIntermountain Heart Institute, Murray, UT (R.A.).
Julie DampDivision of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN (J.D.).
Eileen HsichHeart and Vascular Institute at the Cleveland Clinic and Cleveland Clinic Lerner College of Medicine of Case Western Reserve University School of Medicine, OH (E.H.).
Uri ElkayamKeck School of Medicine, University of Southern California, Los Angeles (U.E.).
Richard SheppardJewish General Hospital, McGill University, Montreal, Canada (R.S.).
Jeffrey D AlexisDivision of Cardiology, University of Rochester School of Medicine and Dentistry, NY (J.D.A.).
John BoehmerPenn State Milton S. Hershey Medical Center, Hershey, PA (J. Boehmer).
Chizuko KamiyaDepartment of Obstetrics and Gynecology, National Cerebral and Cardiovascular Center, Osaka, Japan (C.K.).
Finn GustafssonDepartment of Cardiology (F.G.), Copenhagen University Hospital Rigshospitalet, Denmark.
Peter DammDepartment of Obstetrics (P.D., A.S.E.), Copenhagen University Hospital Rigshospitalet, Denmark.
Anne S ErsbøllDepartment of Obstetrics (P.D., A.S.E.), Copenhagen University Hospital Rigshospitalet, Denmark.
Sorel GolandDepartment of Cardiology, Kaplan Medical Center, Rehovot, Israel (S.G.).
Denise Hilfiker-KleinerHannover Medical School and Phillips University Marburg, Germany (D.H.-K.).
Dennis M McNamaraUniversity of Pittsburgh Medical Center, PA (D.M.M.).
IMAC-2 and IPAC Investigators
Zolt AranyCardiovascular Institute, and Penn Muscle Institute, Department of Medicine (R.G., J.L., J. Brandimarto, Q.M., K.B.M., T.P.C., Z.A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.
University of Pennsylvania · USHoward Hughes Medical Institute · USUniversity of Copenhagen · DKCleveland Clinic Lerner College of Medicine · USDell Children's Medical Center of Central Texas · USHarvard University · USIntermountain Medical Center · USJeffrey Modell Foundation · AUJewish General Hospital · CAKaplan Medical Center · ILMedical University of South Carolina · USNational Cerebral and Cardiovascular Center · JPPenn State Milton S. Hershey Medical Center · USPhillips University · USTwitter (United States) · USUniversity of Pittsburgh Medical Center · USUniversity of Southern California · USVanderbilt University Medical Center · USYale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4M
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
Integrative genomics of human heart failureR01HL105993 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI ASHLEY, EUAN A, CAPPOLA, THOMAS P. · 2011 to 2014
$8.9M
MTSS1 in Myocardial DiseaseR01HL141232 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI THOMAS P. CAPPOLA, Scott Michael Damrauer · 2019 to 2026
$4.7M
MECHANISMS OF IMPROVED DIASTOLIC FUNCTION IN HUMAN HEARTR01AG017022 · NIA · UNIVERSITY OF PENNSYLVANIA · PI MARGULIES, KENNETH BER · 1998 to 2007
$2.9M
Endogenous Cardiac Repair in HumansR01HL089847 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI MARGULIES, KENNETH BER · 2009 to 2012
$1.9M
Genetic Modulation of Left Ventricular RecoveryR01HL075038 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MCNAMARA, DENNIS M. · 2004 to 2008
$1.8M
sFlt and Metabolic Mechanisms of Peripartium CardiomyopathyR01HL126797 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI ARANY, ZOLTAN P · 2016 to 2019
$1.6M
Immune Activation and Myocardial Recovery in Peripartum CardiomyopathyRC1HL102429 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MCNAMARA, DENNIS M. · 2009 to 2010
$1000k
NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001878NHLBI NIH HHS R01 HL075038NHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL089847NHLBI NIH HHS R01 HL105993NHLBI NIH HHS R01 HL126797NHLBI NIH HHS R01 HL141232NHLBI NIH HHS RC1 HL102429NIA NIH HHS R01 AG017022
6 · The paper itself

Abstract

backgroundPeripartum cardiomyopathy (PPCM) occurs in ≈1:2000 deliveries in the United States and worldwide. The genetic underpinnings of PPCM remain poorly defined. Approximately 10% of women with PPCM harbor truncating variants in

methodsWomen with PPCM were retrospectively identified from several US and international academic centers, and clinical information and DNA samples were acquired. Next-generation sequencing was performed on 67 genes, including

resultsFour hundred sixty-nine women met inclusion criteria. Of the women with PPCM, 10.4% bore TTNtvs (odds ratio=9.4 compared with 1.2% in the reference population; Bonferroni-corrected

conclusionsThis study provides the first extensive genetic and phenotypic landscape of PPCM and demonstrates that predisposition to heart failure is an important risk factor for PPCM. The work reveals a degree of genetic similarity between PPCM and dilated cardiomyopathy, suggesting that gene-specific therapeutic approaches being developed for dilated cardiomyopathy may also apply to PPCM, and that approaches to genetic testing in PPCM should mirror those taken in dilated cardiomyopathy. Last, the clarification of genotype/phenotype associations has important implications for genetic counseling.

Indexed as

AdultCardiomyopathiesFemaleHumansPeripartum PeriodPhenotypePregnancyRetrospective Studiescardiomyopathiesperipartum period

Identifiers

PMID33874732
PMCPMC8113098
OpenAlexW3156144486

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.