Right-sided aortic arch in Goldenhar syndrome

Case contributed by Brenda Gabriela Medina
Diagnosis certain

Presentation

Chronic chest pain and gastroesophageal reflux. The patient has Goldenhar syndrome already diagnosed.

Patient Data

Age: 8 years
Gender: Female

The heart has increased dimensions of both ventricles with a cardiothoracic index of 0.57. The right aortic arch with an aberrant left subclavian artery behind the esophagus is observed. Additionally, there is an increase in the density of anterior mediastinal fat related to thymic remains.

3D reconstruction where thirteen bilateral costal arches are observed. The left first costal arch shows duplication of the articular facet and abnormal articulation with C7 and T1. There is also an abnormal articulation of the second left costal arch. The thoracic vertebrae have abnormal intervertebral articulation between C7-T1 with the right articular facet towards the dorsal aspect and fusion of the vertebral bodies and posterior elements of T3-T4.

Case Discussion

Goldenhar syndrome is a rare condition, occurring due to a defect in the development of first and second branchial arches. Is characterized by a combination of various anomalies involving the face, eyes, ears, and vertebrae and less frequently cardiac and vascular malformations The etiology is not fully known.

Right aortic arch occurs in approximately 0.01 to 0.1 percent of the general population. In general, they are not directly cause any cardiovascular problems. However, in some patients, right aortic arches can be associated with other congenital heart defects, vascular rings, and chromosomal abnormalities.

This is a rare case of the right aortic arch with an aberrant left subclavian artery plus the common vertebrae anomalies well known in Goldenhar syndrome.

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