Author(s): Hamed Abbasizade Ghoroghchi*, Soodeh Hooshmandi, Amir Khaujuei, Seyed Mohammad Hoseini and Mohsen Soosanabadi Farahani
Tetralogy of Fallot (TOF) is the most common cyanotic disease in the world. Anatomic heart defects that occur in this disease cause hypoxia and shortness of breath in the patient. Early diagnosis and treatment by surgery is necessary for infants. Snijders Blok Syndrome is a rare syndrome that affects nose, skull bones, ears and development of CNS, etc. Patients with this syndrome are often at the risk of seizure, FTT, etc. This case report emphasizes the importance of recognizing and managing the coexistence of Snijders Blok syndrome and TOF. The unique clinical presentation and genetic findings in this patient provide valuable insights into the complexity of overlapping genetic disorders and congenital heart defects. Further studies are needed to expand our knowledge and improve clinical management strategies for individuals with similar comorbidities. This comorbidity was not report before according to our best knowledge.
