Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth disorder with an estimated incidence of 1:13,700 live births. It is caused by a variety of genetic or epigenetic alterations within two domains of imprinted gene on chromosome 11p15. Most of the BWS cases are sporadic (85%). Approximately 15% of the cases are familial forms. BWS is caused by various epigenetic or genetic alterations that regulate imprinted genes on chromosome 11p15.5.
The patients are usually presented in infancy with the symptom triad: exomphalos, macroglossia and gigantism. However, the clinical features of BWS are variable and include viseromegaly, neonatal hypoglycemia, ear creases pits, adrenocortical cytomegaly and renal immaturity. Because of viseromegaly, these patients have an increased risk of embryonal tumor development.
Association of cardiovascular anomalies is rare but can present difficulties during perioperative management. The diagnosis is mainly clinical, and there are no absolute requisites for clinical diagnosis of BWS. It is generally accepted that the presence of at least three major findings, or two major and one minor findings support a clinical diagnosis. Molecular diagnosis is difficult, mostly because of large spectrum of genetic and epigenetic abnormalities. Death may be due to complications arising from hypoglycemia, prematurity, cardiomyopathy, macroglossia or tumors. Some of these patients require surgery for correction of macroglossia and associated abnormalities (e.g. cleft palate, exomphalos or removal of embryonal tumors). Although BWS perse is only rarely associated with neurologic development abnormalities, hypoglycemic period can lead to varying degree of psychomotor retardation. Congenital cardiac problem may need corrective surgery under cardiopulmonary bypass. The main perioperative anaesthetic concern in the treatment of BWS patients is management of a difficult airway, recurrent hypoglycemia and electrolyte imbalance. The underlying cardiac disease may complicate the anaesthesia management further.