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Ehlers-Danlos syndrome and congenital heart anomalies
Internal Medicine (Tokyo, Japan)
|March 1, 1996
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.