The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease.

Diagnosis, Differential Echocardiography Fabry Disease / diagnostic imaging Female Fibrosis Humans Hypertrophy, Left Ventricular / diagnostic imaging Magnetic Resonance Imaging Male Myocardium / pathology Patient Selection Predictive Value of Tests Prognosis Ventricular Function, Left Ventricular Remodeling
Anderson-Fabry disease cardiovascular magnetic resonance chaperone therapy echocardiography enzyme replacement therapy

Journal

JACC. Cardiovascular imaging
ISSN: 1876-7591
Titre abrégé: JACC Cardiovasc Imaging
Pays: United States
ID NLM: 101467978

Informations de publication

Date de publication:
Jul 2019
Historique:
received: 14 09 2018
revised: 19 11 2018
accepted: 29 11 2018
entrez: 6 7 2019
pubmed: 6 7 2019
medline: 18 3 2020
Statut: ppublish

Résumé

Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of glycosphingolipids in various cells and organs including the heart. Cardiac involvement is common and results in increased myocardial inflammation, left ventricular hypertrophy (LVH), and myocardial fibrosis. Echocardiography and cardiovascular magnetic resonance (CMR) offer distinctive and often complementary use to assist in the diagnosis and monitoring pharmacologic therapy in AFD, including detection of the AFD cardiac phenotype, differentiation from other forms of LVH, and patient selection for therapeutic intervention. Advanced cardiac imaging holds promise in subclinical detection of AFD-related abnormalities as well as disease staging and prognostication.

Identifiants

DOI: 10.1016/j.jcmg.2018.11.039 PMID: 31272606
pubmed: 31272606
pii: S1936-878X(19)30461-9
doi: 10.1016/j.jcmg.2018.11.039
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1230-1242

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Crown Copyright © 2019. Published by Elsevier Inc. All rights reserved.

Auteurs

Rebecca Perry (R)

College of Medicine, Flinders University of South Australia; Department of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia.

Ranjit Shah (R)

College of Medicine, Flinders University of South Australia; Department of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia.

Madiha Saiedi (M)

College of Medicine, Flinders University of South Australia; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia.

Sanjana Patil (S)

College of Medicine, Flinders University of South Australia.

Anand Ganesan (A)

College of Medicine, Flinders University of South Australia; Department of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia.

Ales Linhart (A)

Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University, General University Hospital in Prague, Czech Republic.

Joseph B Selvanayagam (JB)

College of Medicine, Flinders University of South Australia; Department of Cardiovascular Medicine, Flinders Medical Centre, Southern Adelaide Local Health Network; Cardiac Imaging Research Group, South Australian Health and Medical Research Institute, Adelaide, South Australia. Electronic address: joseph.selvanayagam@flinders.edu.au.

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Classifications MeSH

questionsmedicales.fr › Diagnostic › Diagnostic différentiel › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic cardiovasculaire › Tests de la fonction cardiaque › Échocardiographie › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Fabry › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Fibrose › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Hypertrophie › Cardiomégalie › Hypertrophie ventriculaire gauche › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Myocarde › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Administration des services de santé › Gestion des soins aux patients › Sélection de patients › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Valeur prédictive des tests › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Diagnostic › Pronostic › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiologiques cardiovasculaires › Fonction ventriculaire › Fonction ventriculaire gauche › The Role of Cardiac Imaging in the Diagnosis...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiologiques cardiovasculaires › Fonction ventriculaire › Remodelage ventriculaire › The Role of Cardiac Imaging in the Diagnosis...