Goldenhar syndrome

• Published in: Schweizerische medizinische Wochenschrift Vol. 109; no. 1; p. 19
• Main Authors: Hess, O M, Steurer, J, Goebel, N H, Kuhlmann, U, Krayenbühl, H P
• Format: Journal Article
• Language: German
• Published: Switzerland 06.01.1979
• Subjects: Adult; Coronary Vessel Anomalies - etiology; Female; Fistula; Goldenhar Syndrome - pathology; Heart Defects, Congenital; Heart Septal Defects, Atrial - etiology; Humans; Hypertension, Pulmonary - etiology; Lung - abnormalities; Mandibulofacial Dysostosis - pathology; Mitral Valve Prolapse - etiology; Scoliosis - etiology; Tricuspid Valve Insufficiency
• ISSN: 0036-7672

The basic features of Goldenhar syndrome are preauricular appendices, epibulbar dermoids, vertebral and cardiac anomalies, and hypoplasia of the lungs. The syndrome appears to be caused by early damage during the first or second month of embryonic development. Prognosis is most often determined by the underlying heart disease. In the present study a 24-year-old female student is reported who exhibited a preauricular appendix on the right side, severe thoracic scoliosis, aplasia of the middle and lower lobes of the right lung, dextropositio cordis and an atrial septal defect with severe pulmonary hypertension. Cineangiocardiography revealed a mitral valve prolapse with slight mitral regurgitation and a dilated right ventricle with severe tricuspid regurgitation. Left and right ventricular function was slightly to moderately reduced. Selective coronary arteriography revealed a coronary fistula from an atrial branch of the left coronary artery to the right atrium. Symptomatic therapy with digitalis, anticoagulation and repeated venesection was initiated because of the severe hemodynamic findings. However, the patient developed syncope at increasingly frequent intervals and died 3 months after the initial examination.