Heterotaxy Syndrome Diagnosed in an Adult


Guney G., Aydinli F., Aksit S., Kadirli K., SALMANOĞLU M.

Ochsner Journal, cilt.24, sa.4, ss.288-297, 2024 (ESCI, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 4
  • Basım Tarihi: 2024
  • Doi Numarası: 10.31486/toj.24.0021
  • Dergi Adı: Ochsner Journal
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.288-297
  • Anahtar Kelimeler: Annular symbolscript symbolscript cardiovascular symbolscript symbolscript heterotaxy symbolscript symbolscript levocardia
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Background: Heterotaxy syndrome, a condition in which the internal organs are abnormally arranged in the thorax or abdomen, is generally diagnosed early in life, often during the neonatal period. Case Report: We present the case of a 42-year-old male who was incidentally diagnosed with polysplenia syndrome and subse-quently diagnosed with heterotaxy syndrome. Upon further investigation, he was determined to have a sinus venosus type atrial septal defect. Furthermore, the patient’s inferior vena cava was interrupted in the infrarenal region and continued as the azygos vein with a coincidental retroaortic left renal vein, an anatomic variation unrelated to heterotaxy syndrome. Because of his minimal cardiac anomalies, the patient remained undiagnosed until adulthood. Conclusion: According to our research, this case is the first report of a patient with heterotaxy syndrome and a sinus venosus type atrial septal defect. This case augments the available information about the variations of this rare syndrome.