Literature DB >> 8785453

Ehlers-Danlos syndrome and congenital heart anomalies.

T Maeda1, Y Suzuki, S Haeno, M Asada, R Hiramatsu, F Tanaka, M Okada, T Suzuki.   

Abstract

Two sisters with Ehlers-Danlos syndrome, inherited as an autosomal recessive trait, and congenital heart disease are herein reported. One was a 20-year-old woman with Ehlers-Danlos syndrome and multiple aphthous stomatitis, bronchial asthma, an emphysematous lung, a ventricular septal defect and a bilateral inguinal hernia due to hyperextensibility and joint hypermobility. The other was a 17-year-old girl with the same syndrome and an atrial septal defect, a ventricular septal defect and patent ductus arteriosus. The combination of Ehlers-Danlos syndrome and congenital heart anomalies in these siblings suggest a common genetic defect to be the cause of these diseases.

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Year:  1996        PMID: 8785453     DOI: 10.2169/internalmedicine.35.200

Source DB:  PubMed          Journal:  Intern Med        ISSN: 0918-2918            Impact factor:   1.271


  2 in total

1.  High association of congenital heart disease with indirect inguinal hernia.

Authors:  F Oztürk; B Tander; K Baysal; F Bernay
Journal:  Pediatr Cardiol       Date:  2005 Jan-Feb       Impact factor: 1.655

2.  The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

Authors:  Wuyan Chen; Mimi S Kim; Sujata Shanbhag; Andrew Arai; Carol VanRyzin; Nazli B McDonnell; Deborah P Merke
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

  2 in total

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