Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease

Autores
Cianciulli, Tomás F.; Saccheri, María C.; Fernández, Segundo P.; Fernández, Cinthia C.; Rozenfeld, Paula Adriana; Kisinovsky, Isaac
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. Mini-Abstract We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.
Fil: Cianciulli, Tomás F.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
Fil: Saccheri, María C.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
Fil: Fernández, Segundo P.. CIPERCA; Argentina
Fil: Fernández, Cinthia C.. CIPERCA; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Laboratorio de Investigaciones del Sistema Inmune; Argentina
Fil: Kisinovsky, Isaac. Centro para la enfermedad de Fabry; Argentina. Asociación de Estudios y Difusión de las Enfermedades Lisosomales y Fabry en la Argentina; Argentina
Materia
Apical And Mid-Left Ventricular Hypertrophic Cardiomyopathy
Fabry Disease
Mid-Left Ventricular Obstruction
Transthoracic Echocardiography
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/53913
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry diseaseCianciulli, Tomás F.Saccheri, María C.Fernández, Segundo P.Fernández, Cinthia C.Rozenfeld, Paula AdrianaKisinovsky, IsaacApical And Mid-Left Ventricular Hypertrophic CardiomyopathyFabry DiseaseMid-Left Ventricular ObstructionTransthoracic Echocardiographyhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. Mini-Abstract We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.Fil: Cianciulli, Tomás F.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; ArgentinaFil: Saccheri, María C.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; ArgentinaFil: Fernández, Segundo P.. CIPERCA; ArgentinaFil: Fernández, Cinthia C.. CIPERCA; ArgentinaFil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Laboratorio de Investigaciones del Sistema Inmune; ArgentinaFil: Kisinovsky, Isaac. Centro para la enfermedad de Fabry; Argentina. Asociación de Estudios y Difusión de las Enfermedades Lisosomales y Fabry en la Argentina; ArgentinaWiley Blackwell Publishing, Inc2015-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/53913Cianciulli, Tomás F.; Saccheri, María C.; Fernández, Segundo P.; Fernández, Cinthia C.; Rozenfeld, Paula Adriana; et al.; Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease; Wiley Blackwell Publishing, Inc; Echocardiography (mount Kisco, N.y.); 32; 5; 5-2015; 860-8630742-2822CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1111/echo.12900info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/echo.12900info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:37:21Zoai:ri.conicet.gov.ar:11336/53913instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:37:21.572CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
title Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
spellingShingle Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
Cianciulli, Tomás F.
Apical And Mid-Left Ventricular Hypertrophic Cardiomyopathy
Fabry Disease
Mid-Left Ventricular Obstruction
Transthoracic Echocardiography
title_short Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
title_full Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
title_fullStr Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
title_full_unstemmed Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
title_sort Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
dc.creator.none.fl_str_mv Cianciulli, Tomás F.
Saccheri, María C.
Fernández, Segundo P.
Fernández, Cinthia C.
Rozenfeld, Paula Adriana
Kisinovsky, Isaac
author Cianciulli, Tomás F.
author_facet Cianciulli, Tomás F.
Saccheri, María C.
Fernández, Segundo P.
Fernández, Cinthia C.
Rozenfeld, Paula Adriana
Kisinovsky, Isaac
author_role author
author2 Saccheri, María C.
Fernández, Segundo P.
Fernández, Cinthia C.
Rozenfeld, Paula Adriana
Kisinovsky, Isaac
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Apical And Mid-Left Ventricular Hypertrophic Cardiomyopathy
Fabry Disease
Mid-Left Ventricular Obstruction
Transthoracic Echocardiography
topic Apical And Mid-Left Ventricular Hypertrophic Cardiomyopathy
Fabry Disease
Mid-Left Ventricular Obstruction
Transthoracic Echocardiography
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. Mini-Abstract We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.
Fil: Cianciulli, Tomás F.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
Fil: Saccheri, María C.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina
Fil: Fernández, Segundo P.. CIPERCA; Argentina
Fil: Fernández, Cinthia C.. CIPERCA; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Laboratorio de Investigaciones del Sistema Inmune; Argentina
Fil: Kisinovsky, Isaac. Centro para la enfermedad de Fabry; Argentina. Asociación de Estudios y Difusión de las Enfermedades Lisosomales y Fabry en la Argentina; Argentina
description We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy. Mini-Abstract We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.
publishDate 2015
dc.date.none.fl_str_mv 2015-05
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/53913
Cianciulli, Tomás F.; Saccheri, María C.; Fernández, Segundo P.; Fernández, Cinthia C.; Rozenfeld, Paula Adriana; et al.; Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease; Wiley Blackwell Publishing, Inc; Echocardiography (mount Kisco, N.y.); 32; 5; 5-2015; 860-863
0742-2822
CONICET Digital
CONICET
url http://hdl.handle.net/11336/53913
identifier_str_mv Cianciulli, Tomás F.; Saccheri, María C.; Fernández, Segundo P.; Fernández, Cinthia C.; Rozenfeld, Paula Adriana; et al.; Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease; Wiley Blackwell Publishing, Inc; Echocardiography (mount Kisco, N.y.); 32; 5; 5-2015; 860-863
0742-2822
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1111/echo.12900
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/echo.12900
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
publisher.none.fl_str_mv Wiley Blackwell Publishing, Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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