Cardiofacial Syndrome: A Rare Case Report

Cardiofacial syndrome is associated with facial abnormality with congenital heart disease. Here, we report a case of cardiofacial syndrome having anotia and facial nerve palsy on the right side in combination with infundibular pulmonary stenosis and patent ductus arteriosus which is a rare presentation of cardiofacial syndrome. A 6 years old girl presented to department of Cardiac surgery of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh with the complaints of shortness of breath on exertion since 2 years of age. Her physical examination revealed right sided anotia and facial nerve palsy associated harsh ejection systolic murmur in upper left parasternal area. Echocardiography showed critical infundibular pulmonary stenosis with a small patent ductus arteriosus. She underwent ligation of patent ductus arteriosus and excision of infundibular muscular bands and discharged to home without any complication. Any child presented with facial abnormality should be checked for any cardiac abnormality for early intervention and better management of the patient.