A Rare Case of Goldenhar Syndrome Associated with Familial Short QT Syndrome

We report a rare coexistence of Goldenhar syndrome and familial Short QT syndrome, and to emphasize the importance of cardiac screening in affected families. We describe a three-year-old male patient presenting with bilateral white ocular lesions who underwent comprehensive ophthalmic, systemic, and cardiac evaluations, along with a detailed family history assessment. Ophthalmic examination revealed bilateral inferotemporal epibulbar dermoids associated with high astigmatism, for which surgical excision was performed. Extraocular findings were consistent with Goldenhar syndrome, including mandibular hypoplasia, bilateral auricular hypoplasia, and preauricular acrochordons. Although the patient’s cardiac evaluation was normal, a strong family history of short QT syndrome was identified, with implantable cardioverter-defibrillators placed in 11 relatives. The coexistence of Goldenhar syndrome and familial short QT syndrome in this case suggests a rare but potentially significant genetic or embryologic association. These findings highlight that cardiac pathologies may accompany Goldenhar syndrome; therefore, cardiac screening of affected patients and their relatives may be lifesaving.