The KBG syndrome: Case report

The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies.

A 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was schedules for left ossicular reconstruction under general anaesthesia for bilateral hearing loss. A psycho-motor retardation was associated to morphological anomalies such as short neck, hyperlordosis without neck extension imparirment, craniofacial anomalies and dento-skeletal abnormalities. An echocardiography showed the presence of interatrial defect with left-to-right shunt. The patient was sent to a cardiac surgery centre.

Perioperative evaluation of patients affected by KBG syndrome must take into consideration the management of difficult airways, due to the associated craniofacial dysmorphism. The possible presence of cardiac anomalies in the KBG syndrome is currently being evalueted. In this report the finding of cardiomegaly and congestion of the pulmonary circulation was attributed to presence of an interatrial defect with left-to-right shunt. The risk of cardiopulmonary failure led us to ask for a cardiac surgery consult. Perioperative management of these patients should be extremely accurate, even in the case of minor surgery, and should include also chest X-rays and echocardiography evaluation.