Журнал генетических синдромов и генной терапии
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Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Rabah Al-Mehisen, Ramy El Essely, Mouaz Al-Mallah, Maha A Al-Mohaissen and Tarek Kashour

Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.