Case Report: Beckwith-Wiedemann syndrome with congenital heart disease

Abstract

Background: Beckwith-Wiedemann syndrome (BWS) is caused by a genetic mutation of chromosome defects at 11p15 S. It is seen in 1 in 10,400 to 13,800 cases, and the association between BWS and congenital heart disease (CHD) is not reported; amniocentesis or chorionic villus sampling is a diagnostic tool. Tongue reduction surgery for macroglossia is the treatment of choice. An early psychological assessment has a beneficial effect on long-term consequences. Case presentation: An 11-month-old female Asian Indian child was referred to the pediatric ward for macroglossia, tachypnea, chest retraction, and not feeding correctly with no history of cyanosis or sign of developmental delay. The patient was born via elective cesarean section at 37 weeks and diagnosed with Beckwith-Wiedemann syndrome by clinical examination. The mother narrated that the patient has frequent fever, cold, and cough episodes after two months of life. An echocardiogram test was done, which showed signs of patent ductus arteriosus (PDA). Devise closure was done. The patient was discharged after 15 days after surgery. On follow-up, the patient was observed for the developmental milestone and advised for ultrasonography (USG) of the abdomen every three months. Discussion: Testing for 11p15, a test in the genetic evaluation, should be done, as it is altered in BWS. Macroglossia was present in our case report. Timing for surgery for macroglossia is before age two years to obtain favorable functional and esthetic results. Among CHD, PDA was commonly seen in BWS; BWS is a cancer predisposition syndrome, and the most common type is Wilms tumor. No tumors were seen in the present case report. Conclusions: The mechanism of association of BWS with PDA is unknown. Patients should be monitored for psychosocial and emotional behavior. Physicians should be aware of this condition so intervention can be done effectively.