Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive

Abstract Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis.

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Main Authors: Pinto,Raimundo José Almeida de Oliveira, Santos,Adaílton Araújo dos, Azevedo,Mablo de Castro, Meira,Saulo Sacramento
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Dermatologia 2015
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000700220
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spelling oai:scielo:S0365-059620150007002202015-11-19Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructivePinto,Raimundo José Almeida de OliveiraSantos,Adaílton Araújo dosAzevedo,Mablo de CastroMeira,Saulo Sacramento Cardiomyopathy Hypertrophic Ehlers-Danlos Syndrome Tenascin Abstract Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis.info:eu-repo/semantics/openAccessSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia v.90 n.3 suppl.1 20152015-06-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000700220en10.1590/abd1806-4841.20153824
institution SCIELO
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country Brasil
countrycode BR
component Revista
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databasecode rev-scielo-br
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region America del Sur
libraryname SciELO
language English
format Digital
author Pinto,Raimundo José Almeida de Oliveira
Santos,Adaílton Araújo dos
Azevedo,Mablo de Castro
Meira,Saulo Sacramento
spellingShingle Pinto,Raimundo José Almeida de Oliveira
Santos,Adaílton Araújo dos
Azevedo,Mablo de Castro
Meira,Saulo Sacramento
Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
author_facet Pinto,Raimundo José Almeida de Oliveira
Santos,Adaílton Araújo dos
Azevedo,Mablo de Castro
Meira,Saulo Sacramento
author_sort Pinto,Raimundo José Almeida de Oliveira
title Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
title_short Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
title_full Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
title_fullStr Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
title_full_unstemmed Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
title_sort ehlers-danlos syndrome associated with cardiomyopathy hypertrophic obstructive
description Abstract Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis.
publisher Sociedade Brasileira de Dermatologia
publishDate 2015
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962015000700220
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