Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.

Adult Cardiomyopathies / genetics Female Humans Peripartum Period / genetics Phenotype Pregnancy Retrospective Studies
cardiomyopathies peripartum period

Journal

Circulation
ISSN: 1524-4539
Titre abrégé: Circulation
Pays: United States
ID NLM: 0147763

Informations de publication

Date de publication:
11 05 2021
Historique:
pubmed: 21 4 2021
medline: 24 12 2021
entrez: 20 4 2021
Statut: ppublish

Résumé

Peripartum 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 Women 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 Four 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 This 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.

Sections du résumé

BACKGROUND
Peripartum 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
METHODS
Women 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
RESULTS
Four 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
CONCLUSIONS
This 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.

Identifiants

DOI: 10.1161/CIRCULATIONAHA.120.052395 PMID: 33874732 PMC: PMC8113098
pubmed: 33874732
doi: 10.1161/CIRCULATIONAHA.120.052395
pmc: PMC8113098
mid: NIHMS1691298
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1852-1862

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR001878
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL080494
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL105993
Pays : United States
Organisme : NHLBI NIH HHS
ID : RC1 HL102429
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL126797
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL089847
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG017022
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL075038
Pays : United States

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Auteurs

Rahul Goli (R)

Cardiovascular 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 Li (J)

Cardiovascular 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 Brandimarto (J)

Cardiovascular 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 Levine (LD)

Maternal and Child Health Research Center, Department of Obstetrics and Gynecology (L.D.L., V.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

Valerie Riis (V)

Maternal and Child Health Research Center, Department of Obstetrics and Gynecology (L.D.L., V.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

Quentin McAfee (Q)

Cardiovascular 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 DePalma (S)

Department of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
Howard Hughes Medical Institute, Chevy Chase, MD (S.D., A.H., C.E.S.).

Alireza Haghighi (A)

Department of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
Howard Hughes Medical Institute, Chevy Chase, MD (S.D., A.H., C.E.S.).

J G Seidman (JG)

Department of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).

Christine E Seidman (CE)

Department of Genetics, Harvard Medical School, Boston, MA (S.D., A.H., J.G.S., C.E.S.).
Howard Hughes Medical Institute, Chevy Chase, MD (S.D., A.H., C.E.S.).

Daniel Jacoby (D)

Yale School of Medicine, Section of Cardiovascular Medicine, New Haven, CT (D.J.).

George Macones (G)

Department of Women's Health, Dell Medical School- University of Texas Austin (G.M.).

Daniel P Judge (DP)

Medical University of South Carolina, Charleston (D.P.J.).

Sarosh Rana (S)

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Chicago, IL (S.R.).

Kenneth B Margulies (KB)

Cardiovascular 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 Cappola (TP)

Cardiovascular 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 Alharethi (R)

Intermountain Heart Institute, Murray, UT (R.A.).

Julie Damp (J)

Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN (J.D.).

Eileen Hsich (E)

Heart 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 Elkayam (U)

Keck School of Medicine, University of Southern California, Los Angeles (U.E.).

Richard Sheppard (R)

Jewish General Hospital, McGill University, Montreal, Canada (R.S.).

Jeffrey D Alexis (JD)

Division of Cardiology, University of Rochester School of Medicine and Dentistry, NY (J.D.A.).

John Boehmer (J)

Penn State Milton S. Hershey Medical Center, Hershey, PA (J. Boehmer).

Chizuko Kamiya (C)

Department of Obstetrics and Gynecology, National Cerebral and Cardiovascular Center, Osaka, Japan (C.K.).

Finn Gustafsson (F)

Department of Cardiology (F.G.), Copenhagen University Hospital Rigshospitalet, Denmark.
Department of Clinical Medicine, University of Copenhagen, Denmark (F.G., P.D., A.S.E.).

Peter Damm (P)

Department of Obstetrics (P.D., A.S.E.), Copenhagen University Hospital Rigshospitalet, Denmark.
Department of Clinical Medicine, University of Copenhagen, Denmark (F.G., P.D., A.S.E.).

Anne S Ersbøll (AS)

Department of Obstetrics (P.D., A.S.E.), Copenhagen University Hospital Rigshospitalet, Denmark.
Department of Clinical Medicine, University of Copenhagen, Denmark (F.G., P.D., A.S.E.).

Sorel Goland (S)

Department of Cardiology, Kaplan Medical Center, Rehovot, Israel (S.G.).

Denise Hilfiker-Kleiner (D)

Hannover Medical School and Phillips University Marburg, Germany (D.H.-K.).

Dennis M McNamara (DM)

University of Pittsburgh Medical Center, PA (D.M.M.).

Zolt Arany (Z)

Cardiovascular 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.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Genetic and Phenotypic Landscape of Peripartum...
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Cardiomyopathies › Genetic and Phenotypic Landscape of Peripartum...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic and Phenotypic Landscape of Peripartum...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Période de péripartum › Genetic and Phenotypic Landscape of Peripartum...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genetic and Phenotypic Landscape of Peripartum...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Genetic and Phenotypic Landscape of Peripartum...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Genetic and Phenotypic Landscape of Peripartum...