Sudden death in goldenhar syndrome

Abstract

Goldenhar syndrome (GS) is a rare congenital disorder that is characterized by incomplete development of the ear, eye, nose, soft palate, lip, and jaw. It is also called oculo-auriculo-vertebral syndrome of Goldenhar, the name describes the common structural problems seen with the eyes, ears, and vertebrae. The outlook for children with GS varies but is generally very positive. Most children can expect to live a healthy life once treatments have been administered. However, certain congenital heart defects seen in this syndrome such as ventricular septal defect (VSD), persistence of arterial conduct, tetralogy of Fallot, and big vessel transposition can lead to sudden death during childhood. These defects are usually diagnosed during intrauterine life by means of fetal echography, leading to termination of such pregnancy or necessary corrective measures after the birth of such child. If such a child dies, it will be certified by the treating pediatrician. Thus, an autopsy pathologist rarely comes across such deaths. One such case of a 45-day-old female infant suffering from craniofacial deformity who became breathless, cyanotic, and died on the way to the hospital is being discussed here. The right ventricle showed double outlets, arising from it were the pulmonary artery and aorta. A small subaortic VSD was seen. Generalized hypoplasia of all internal viscera on the right side was observed.