Ehlers-Danlos syndrome and congenital heart anomalies

被引:4
作者
Maeda, T
Suzuki, Y
Haeno, S
Asada, M
Hiramatsu, RJ
Tanaka, F
Okada, M
Suzuki, T
机构
[1] Department of Clinical Genetics, Institute of Bioregulation, Kyushu University, Beppu
[2] Department of Clinical Genetics, Institute of Bioregulation, Kyushu University, Beppu, Oita, 874
关键词
hereditary connective tissue disease; tissue fragility;
D O I
10.2169/internalmedicine.35.200
中图分类号
R5 [内科学];
学科分类号
1002 [临床医学]; 100201 [内科学];
摘要
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.
引用
收藏
页码:200 / 202
页数:3
相关论文
共 8 条
[1]
Ameson MA, 1980, JAMA-J AM MED ASSOC, V244, P144
[2]
EHLERS-DANLOS SYNDROME AND CARDIOVASCULAR ABNORMALITIES [J].
ANTANI, J ;
SRINIVAS, HV .
CHEST, 1973, 63 (02) :214-217
[3]
INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986 [J].
BEIGHTON, P ;
DEPAEPE, A ;
DANKS, D ;
FINIDORI, G ;
GEDDEDAHL, T ;
GOODMAN, R ;
HALL, JG ;
HOLLISTER, DW ;
HORTON, W ;
MCKUSICK, VA ;
OPITZ, JM ;
POPE, FM ;
PYERITZ, RE ;
RIMOIN, DL ;
SILLENCE, D ;
SPRANGER, JW ;
THOMPSON, E ;
TSIPOURAS, P ;
VILJOEN, D ;
WINSHIP, I ;
YOUNG, I .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03) :581-594
[4]
[5]
BEIGHTON P, 1993, MCKUSICKS HERITABLE, P189
[6]
ANEURYSMAL DILATATION OF PATENT DUCTUS-ARTERIOSUS IN A CASE OF EHLERS-DANLOS SYNDROME [J].
CHANG, JP ;
CHANG, CH ;
SHEIH, MJ .
ANNALS OF THORACIC SURGERY, 1987, 44 (06) :656-657
[7]
SPECTRUM OF CARDIAC DEFECTS IN THE EHLERS-DANLOS SYNDROME, TYPE-I AND TYPE-III [J].
LEIER, CV ;
CALL, TD ;
FULKERSON, PK ;
WOOLEY, CF .
ANNALS OF INTERNAL MEDICINE, 1980, 92 (02) :171-178
[8]
McKUSICK VICTOR A., 1959, BULL NEW YORK ACAD MED, V35, P143