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

Abstract

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.

Keywords

• Goldenhar syndrome
• epibulbar dermoid
• short QT syndrome

Ailesel Kısa Q-T Sendromu ile Birlikte Görülen Nadir Bir Goldenhar Sendromu Olgusu

Abstract

Goldenhar syndrome ile ailesel Short QT syndrome birlikteliğinin nadir bir örneğini sunmayı ve etkilenen ailelerde kardiyak taramanın önemini vurgulamayı amaçladık. Üç yaşında, bilateral beyaz oküler yüzey lezyonları ile başvuran erkek hasta; ayrıntılı oftalmolojik, sistemik ve kardiyak değerlendirmelerin yanı sıra detaylı aile öyküsü açısından incelendi. Oftalmolojik muayenede, yüksek astigmatizma ile ilişkili bilateral inferotemporal epibulbar dermoidler saptandı ve cerrahi olarak eksize edildi. Ekstraoküler bulgular; mandibular hipoplazi, bilateral auriküler hipoplazi ve preauriküler akrokordonlar ile Goldenhar sendromu ile uyumluydu. Hastanın kardiyak değerlendirmesi normal olmasına rağmen, 11 akrabada implante edilebilir kardiyoverter-defibrilatör uygulanmış olmasıyla dikkat çeken güçlü bir kısa QT sendromu aile öyküsü mevcuttu. Bu olguda Goldenhar sendromu ile ailesel kısa QT sendromunun birlikte bulunması, nadir ancak potansiyel olarak anlamlı bir genetik veya embriyolojik ilişkiye işaret etmektedir. Bulgularımız, Goldenhar sendromuna kardiyak patolojilerin eşlik edebileceğini göstermekte olup, bu nedenle hastaların ve yakınlarının kardiyak açıdan taranmasının hayat kurtarıcı olabileceğini vurgulamaktadır.

Keywords

• Goldenhar sendromu
• oküler dermoid kist
• kısa QT sendromu

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