Related Experiment Videos
Goldenhar's syndrome associated with cardiac malformations
Helvetica Paediatrica Acta
|May 1, 1975
Insights
Goldenhar syndrome rarely presents with severe cardiac defects like single ventricle and pulmonary atresia. This rare association highlights the need for thorough cardiac evaluations in affected individuals.
Area of Science:
- Medical Genetics
- Cardiology
- Pediatrics
Background:
- Goldenhar syndrome, also known as oculoauriculovertebral spectrum, is a rare congenital disorder.
- Cardiac malformations are infrequently reported in association with Goldenhar syndrome.
Abstract:
A case of Goldenhar's syndrome associated with cardiac malformations such as single ventricle, atresia of pulmonary artery, and patent ductus arteriosus is described. The association of cardiac malformations with Goldenhar's syndrome is very rare and suggests that it is necessary to perform a careful clinical evaluation in this syndrome whether or not additional malformations may exist in visceral organs.