A Case of Ehlers-Danlos Syndrome Accompanied by Mitral Valvular Prolapse and Atrial Septal Defect.
10.4070/kcj.1990.20.2.265
- Author:
Jin Woo KIM
;
In Suk JUNG
;
Kyung Soo LIM
;
Yung Mi CHOI
;
Jae Cheol CHOI
;
Jong Han OHK
;
Dong Ryong SHU
- Publication Type:Case Report
- Keywords:
Ehlers-Danlos syndrome;
Mitral valvular prolapse;
Atrial septal defect
- MeSH:
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
- From:Korean Circulation Journal
1990;20(2):265-270
- CountryRepublic of Korea
- Language:Korean
-
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.
