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[Goldenhar syndrome]

O M Hess, J Steurer, N H Goebel

    Schweizerische Medizinische Wochenschrift
    |January 6, 1979
    PubMed
    Summary
    This summary is machine-generated.

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    Goldenhar syndrome involves multiple congenital anomalies. This case highlights severe cardiac and pulmonary complications, including a coronary fistula, leading to a fatal outcome despite treatment.

    Area of Science:

    • Genetics and Developmental Biology
    • Cardiology
    • Pulmonology

    Background:

    • Goldenhar syndrome, characterized by craniofacial and vertebral anomalies, often presents with cardiac and pulmonary issues.
    • Early embryonic damage is the suspected cause, with cardiac disease significantly impacting prognosis.

    Observation:

    • A 24-year-old female with Goldenhar syndrome presented with a preauricular appendix, severe thoracic scoliosis, and right lung hypoplasia.
    • Cardiac anomalies included dextroposition, atrial septal defect with pulmonary hypertension, mitral valve prolapse, and tricuspid regurgitation.

    Findings:

    • Cineangiocardiography revealed reduced ventricular function and a coronary fistula from the left coronary artery to the right atrium.
    • The patient exhibited severe hemodynamic compromise necessitating symptomatic therapy.

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    Implications:

    • This case underscores the critical role of comprehensive cardiac and pulmonary evaluation in Goldenhar syndrome.
    • Complex cardiovascular manifestations, such as coronary fistulas, can significantly worsen prognosis and require tailored management strategies.