Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.

Aged Amyloid Neuropathies, Familial / diagnosis Biomarkers / analysis Cardiomyopathy, Hypertrophic / diagnosis Diagnosis, Differential Fabry Disease / diagnosis Female Follow-Up Studies Genetic Testing / methods Glycogen Storage Disease Type IIb / diagnosis Humans Male Middle Aged Multifactorial Inheritance Mutation Noonan Syndrome / diagnosis Prognosis Retrospective Studies
Fabry disease databases, genetic genetic testing genetics humans

Journal

Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113

Informations de publication

Date de publication:
04 2020
Historique:
pubmed: 10 3 2020
medline: 4 6 2021
entrez: 10 3 2020
Statut: ppublish

Résumé

Background Genetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data are available regarding the yield of such testing and its clinical impact. Methods The HCM genetic database at our center was used for identification of patients who underwent HCM-directed genetic testing including at least 1 gene associated with an HCM mimic (

Identifiants

DOI: 10.1161/CIRCGEN.119.002748 PMID: 32150461
pubmed: 32150461
doi: 10.1161/CIRCGEN.119.002748
doi:

Substances chimiques

Biomarkers 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e002748

Commentaires et corrections

Type : CommentIn

Auteurs

Sara Hoss (S)

Division of Cardiology, Peter Munk Cardiac Centre (S.H., M.H., R.H.C., M.H.G., H.R., A.A.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Manhal Habib (M)

Division of Cardiology, Peter Munk Cardiac Centre (S.H., M.H., R.H.C., M.H.G., H.R., A.A.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Josh Silver (J)

Fred A. Litwin and Family Center in Genetic Medicine, University Health Network and Mount Sinai Hospital (J.S., M.C., C.F.M.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Melanie Care (M)

Fred A. Litwin and Family Center in Genetic Medicine, University Health Network and Mount Sinai Hospital (J.S., M.C., C.F.M.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Raymond H Chan (RH)

Division of Cardiology, Peter Munk Cardiac Centre (S.H., M.H., R.H.C., M.H.G., H.R., A.A.), Toronto General Hospital, Canada.

Kate Hanneman (K)

Joint Department of Medical Imaging (K.H.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Chantal F Morel (CF)

Fred A. Litwin and Family Center in Genetic Medicine, University Health Network and Mount Sinai Hospital (J.S., M.C., C.F.M.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Robert M Iwanochko (RM)

University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).
Division of Cardiology, Toronto Western Hospital, ON, Canada (R.M.I.).

Michael H Gollob (MH)

Division of Cardiology, Peter Munk Cardiac Centre (S.H., M.H., R.H.C., M.H.G., H.R., A.A.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Harry Rakowski (H)

Division of Cardiology, Peter Munk Cardiac Centre (S.H., M.H., R.H.C., M.H.G., H.R., A.A.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

Arnon Adler (A)

Division of Cardiology, Peter Munk Cardiac Centre (S.H., M.H., R.H.C., M.H.G., H.R., A.A.), Toronto General Hospital, Canada.
University of Toronto (S.H., M.H., J.S., M.C., K.H., C.F.M., R.M.I., M.H.G., H.R., A.A.).

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Amyloïdose › Amyloïdose familiale › Neuropathies amyloïdes familiales › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Valvulopathies › Maladie de la valve aortique › Cardiomyopathie hypertrophique › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Fabry › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études de suivi › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme glucidique › Glycogénose › Glycogénose de type IIb › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité multifactorielle › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Syndrome de Noonan › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Diagnostic › Pronostic › Genetic Testing for Diagnosis of Hypertrophic...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Genetic Testing for Diagnosis of Hypertrophic...