Korean Circ J.  1990 Jun;20(2):265-270. 10.4070/kcj.1990.20.2.265.

A Case of Ehlers-Danlos Syndrome Accompanied by Mitral Valvular Prolapse and Atrial Septal Defect

Abstract

Ehlers-Danlos Syndrome(EDS) is an inherited disorder of the connective tissue disease that is usually transmitted as autosomal dominant trait. The defect in the biogenesis of collagen results in varying degree of skin hyperextensibility, joint hypermobility, skin fragility and bruising. There have been several reports of cardiac or great vessel abnormalities in patients with the EDS. A 45-year-old Woman was admitted to Maryknoll hospital because of orthopnea, palpitation and epigastric discomfort. Physical examination reveals multiple variable sized bruises and increased hyperelasticity on skin, and hypermobile joint in knee and proximal interphalanges of both hands. Mitral valvular prolapse and atrial septal defect were detected by echocardiography. We report a case of EDS accompanied by mitral valvular prolapse and ostium secundum atral septal defect with brief review of literature.

Keyword

Ehlers-Danlos syndrome; Mitral valvular prolapse; Atrial septal defect

MeSH Terms

Organelle Biogenesis
Collagen
Connective Tissue Diseases
Contusions
Echocardiography
Ehlers-Danlos Syndrome*
Female
Hand
Heart Septal Defects, Atrial*
Humans
Joint Instability
Joints
Knee
Middle Aged
Physical Examination
Prolapse*
Skin
Collagen
Full Text Links
  • KCJ
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr