Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.

Cardiomyopathy, Dilated / diagnosis Evidence-Based Medicine / methods Expert Testimony / methods Genetic Predisposition to Disease / genetics Genetic Testing / methods Humans
cardiomyopathy genetics

Journal

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

Informations de publication

Date de publication:
06 07 2021
Historique:
pubmed: 6 5 2021
medline: 29 12 2021
entrez: 5 5 2021
Statut: ppublish

Résumé

Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted. An international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The panel used the Clinical Genome Resource semiquantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories on the basis of the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated. Fifty-one genes with human genetic evidence were curated. Twelve genes (23%) from 8 gene ontologies were classified as having definitive ( In the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.

Sections du résumé

BACKGROUND
Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. To clarify this, a systematic curation of evidence to establish the relationship of genes with DCM was conducted.
METHODS
An international panel with clinical and scientific expertise in DCM genetics evaluated evidence supporting monogenic relationships of genes with idiopathic DCM. The panel used the Clinical Genome Resource semiquantitative gene-disease clinical validity classification framework with modifications for DCM genetics to classify genes into categories on the basis of the strength of currently available evidence. Representation of DCM genes on clinically available genetic testing panels was evaluated.
RESULTS
Fifty-one genes with human genetic evidence were curated. Twelve genes (23%) from 8 gene ontologies were classified as having definitive (
CONCLUSIONS
In the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.

Identifiants

DOI: 10.1161/CIRCULATIONAHA.120.053033 PMID: 33947203 PMC: PMC8247549
pubmed: 33947203
doi: 10.1161/CIRCULATIONAHA.120.053033
pmc: PMC8247549
mid: EMS124249
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

7-19

Subventions

Organisme : British Heart Foundation
ID : SP/17/11/32885
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL128857
Pays : United States
Organisme : Wellcome Trust
ID : 107469
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : K08 HL133491
Pays : United States
Organisme : Medical Research Council
ID : MR/S003754/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_1102/20
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U24 HG009650
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG009650
Pays : United States

Commentaires et corrections

Type : CommentIn

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Auteurs

Elizabeth Jordan (E)

Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.

Laiken Peterson (L)

Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.

Tomohiko Ai (T)

Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.

Babken Asatryan (B)

Department for Cardiology, Inselspital, Bern University Hospital, University of Bern, Switzerland (B.A.).

Lucas Bronicki (L)

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada (L.B., O.J.).
Department of Laboratory and Pathology Medicine, University of Ottawa, Ontario, Canada (L.B., O.J.).

Emily Brown (E)

Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (E.B., C.A.J., B.M.).

Rudy Celeghin (R)

Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (R.C., K.P.).

Matthew Edwards (M)

Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom (M.E.).

Judy Fan (J)

Department of Medicine, University of California, Los Angeles (J.F., J. Wang).

Jodie Ingles (J)

Cardio Genomics Program at Centenary Institute, University of Sydney, Australia (J.I.).

Cynthia A James (CA)

Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (E.B., C.A.J., B.M.).

Olga Jarinova (O)

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada (L.B., O.J.).
Department of Laboratory and Pathology Medicine, University of Ottawa, Ontario, Canada (L.B., O.J.).

Renee Johnson (R)

Victor Chang Cardiac Research Institute, Sydney, Australia (R.J.).
Department of Medicine, University of New South Wales, Sydney, Australia (R.J.).

Daniel P Judge (DP)

Division of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston (D.P.J.).

Najim Lahrouchi (N)

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam Universitair Medische Centra, University of Amsterdam, the Netherlands (N.L., R.W.).

Ronald H Lekanne Deprez (RH)

Department of Clinical Genetics, Amsterdam University Medical Center location Academic Medical Center, the Netherlands (R.H.L.D.).

R Thomas Lumbers (RT)

Institute of Health Informatics, University College London, London, UK (R.T.L.).
Health Data Research UK London, University College London, UK (R.T.L.).
University College London British Heart Foundation Research Accelerator, London, United Kingdom (R.T.L.).

Francesco Mazzarotto (F)

Cardiovascular Research Center, Royal Brompton and Harefield Hospitals, National Health Service Foundation Trust, London, United Kingdom (F.M., J. Ware).
National Heart and Lung Institute, Imperial College London, United Kingdom (F.M., J. Ware).
Department of Clinical and Experimental Medicine, University of Florence, Italy (F.M.).
Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy (F.M.).

Argelia Medeiros Domingo (A)

Swiss DNAlysis Cardiogenetics, Dübendorf, Switzerland (A.M.D.).

Rebecca L Miller (RL)

Cardiovascular Genomics Center, Inova Heart and Vascular Institute, Falls Church, VA (R.L.M., P. Shah).

Ana Morales (A)

Invitae Corp, San Francisco, CA (A.M.).

Brittney Murray (B)

Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD (E.B., C.A.J., B.M.).

Stacey Peters (S)

Department of Cardiology and Genomic Medicine, Royal Melbourne Hospital, Australia (S.P.).

Kalliopi Pilichou (K)

Department of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Italy (R.C., K.P.).

Alexandros Protonotarios (A)

Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom (A.P., P. Syrris).

Christopher Semsarian (C)

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Australia (C.S.).

Palak Shah (P)

Cardiovascular Genomics Center, Inova Heart and Vascular Institute, Falls Church, VA (R.L.M., P. Shah).

Petros Syrris (P)

Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom (A.P., P. Syrris).

Courtney Thaxton (C)

Department of Genetics, University of North Carolina, Chapel Hill (C.T.).

J Peter van Tintelen (JP)

Department of Genetics, University Medical Center Utrecht, University of Utrecht, The Netherlands (J.P.v.T.).

Roddy Walsh (R)

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam Universitair Medische Centra, University of Amsterdam, the Netherlands (N.L., R.W.).

Jessica Wang (J)

Department of Medicine, University of California, Los Angeles (J.F., J. Wang).

James Ware (J)

Cardiovascular Research Center, Royal Brompton and Harefield Hospitals, National Health Service Foundation Trust, London, United Kingdom (F.M., J. Ware).
National Heart and Lung Institute, Imperial College London, United Kingdom (F.M., J. Ware).
Medical Research Council London Institute for Medical Sciences, Imperial College London, United Kingdom (J. Ware).

Ray E Hershberger (RE)

Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Division of Cardiovascular Medicine (R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Laminopathies › Cardiomyopathie dilatée › Evidence-Based Assessment of Genes in Dilated...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine factuelle › Evidence-Based Assessment of Genes in Dilated...
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