Ehlers-Danlos syndrome and congenital heart anomalies.
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.
Maeda
T
T
Department of Clinical Genetics, Kyushu University, Beppu.
Suzuki
Y
Y
Haeno
S
S
Asada
M
M
Hiramatsu
R
R
Tanaka
F
F
Okada
M
M
Suzuki
T
T
D000328:Adult; D001249:Asthma / Q000150:complications; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging; D009679:Nuclear Family; D011656:Pulmonary Emphysema / Q000150:complications; D011859:Radiography; D013281:Stomatitis, Aphthous / Q000150:complications