Literature DB >> 26312722

Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.

Raimundo José Almeida de Oliveira Pinto1, Adaílton Araújo dos Santos1, Mablo de Castro Azevedo1, Saulo Sacramento Meira1.   

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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Year:  2015        PMID: 26312722      PMCID: PMC4540556          DOI: 10.1590/abd1806-4841.20153824

Source DB:  PubMed          Journal:  An Bras Dermatol        ISSN: 0365-0596            Impact factor:   1.896


  4 in total

Review 1.  Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects.

Authors:  Manon C Zweers; Alan J Hakim; Rodney Grahame; Joost Schalkwijk
Journal:  Arthritis Rheum       Date:  2004-09

2.  A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

Authors:  J Schalkwijk; M C Zweers; P M Steijlen; W B Dean; G Taylor; I M van Vlijmen; B van Haren; W L Miller; J Bristow
Journal:  N Engl J Med       Date:  2001-10-18       Impact factor: 91.245

3.  Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.

Authors:  Elena Makareeva; Wayne A Cabral; Joan C Marini; Sergey Leikin
Journal:  J Biol Chem       Date:  2006-01-05       Impact factor: 5.157

4.  Ventricular arrhythmias and left ventricular hypertrophy in hypertrophic cardiomyopathy.

Authors:  Beatriz Piva e Mattos; Marco Antonio Rodrigues Torres; Valéria Centeno de Freitas; Fernando Luís Scolari; Melina Silva de Loreto
Journal:  Arq Bras Cardiol       Date:  2013-04-12       Impact factor: 2.000

  4 in total

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