İç organların malpozisyonu: Erişkinde bir situs ambiguous anomalisi

The interesting points of this patient are that she reached an advanced age without complaint in spite of congenital heart disease, and that the diagnosis was made incidentally during routine examination.

📌 3 Key Takeaways

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Objective & Hypothesis:Situs ambiguous anomaly is a rarely encountered condition in clinical practice that is characterized by the presence of multiple congenital anomalies relevant to intraabdominal organs and the cardiovascular system.

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Key Findings & Data:While this syndrome is mostly diagnosed as a serious cyanotic cardiac disease in the first year of life, only 5% may survive beyond five years of life, and it can be a diagnostic challenge.

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Conclusion & Impact:The interesting points of this patient are that she reached an advanced age without complaint in spite of congenital heart disease, and that the diagnosis was made incidentally during routine examination.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Doğumsal · kalıtsal ve yenidoğan hastalıkları ve anormallikleri · Congenital

Abstract

Situs ambiguous anomaly is a rarely encountered condition in clinical practice that is characterized by the presence of multiple congenital anomalies relevant to intraabdominal organs and the cardiovascular system. While this syndrome is mostly diagnosed as a serious cyanotic cardiac disease in the first year of life, only 5% may survive beyond five years of life, and it can be a diagnostic challenge. In this report, we present an adult case of situs ambiguous anomaly which was diagnosed incidentally. The patient had centrally located liver, multiple splenules, interrupted inferior vena cava with azygos continuation, and bilateral bilobed lungs. Furthermore, she had a history of an atrial septal defect operation 20 years previously. These congenital anomalies were found to be compatible with situs ambiguous anomaly (its polysplenia variant). The interesting points of this patient are that she reached an advanced age without complaint in spite of congenital heart disease, and that the diagnosis was made incidentally during routine examination.

Özet

Situs ambiguous anomalisi, intraabdominal organlara ve kardiyovasküler sisteme ait multipl konjenital anomalilerin varlığı ile karakterize, klinikte uygulamada nadir rastlanılan bir durumdur. Bu sendrom çoğu kez yaşamın ilk 5 yılında ciddi siyanotik kalp hastalığı nedeniyle ortaya çıkmasına rağmen, vakaların %5'i daha ileri yaşlara kadar yaşayabilir ve teşhiste zorluklara neden olabilir. Bu makalede, rastlantısal olarak teşhis edilen bir situs ambiguous vakası sunuyoruz. Hastada santral olarak yerleşmiş bir karaciğer ile birlikte multipl splenuller bulunuyordu, inferior vena cavanın subhepatik kısmı kesintiye uğramıştı ve azygos veni ile devam ediyordu, her iki akciğerde de iki lob bulunuyordu. Ayrıca, hastanın 20 yıl önce atrial septal defekt operasyonu öyküsü mevcuttu. Sayılan bu anomaliler situs ambiguous anomalisinin polispleni varyantı ile uyumlu bulundu. Bu vakanın ilginç tarafı, konjenital kalp hastalığına rağmen herhangi bir şikayeti olmaksızın ileri yaşlara kadar yaşayabilmesi ve rutin muayene esnasında rastlantısal olarak tespit edilmesidir.

Keywords

Doğumsal kalıtsal ve yenidoğan hastalıkları ve anormallikleri Congenital Hereditary and Neonatal Diseases and Abnormalities

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Cite This Article

ABUT, E., ARMAN, A., GÜVELİ, H., BÖLÜKBAŞ, C., KENDİR, T., DALAY, R., ÖVÜNÇ, O. (2003). İç organların malpozisyonu: Erişkinde bir situs ambiguous anomalisi. Turkish Journal of Gastroenterology, Cilt: 14 - Sayı: 2, 151–155. https://ajindex.com/articles/410920

References (12)

Moore KL, Persaud TVN. Formation of germ layers and early tissue and organ differentiation: the third week. In: Moore KL, ed. The Developing Human: Clinically Oriented Embryology. 6th ed. Philadelphia: Saunders, 1998; 63-82
Gutgesell HP, Garson A, Park I. Prognosis for the neonate and young infant with congenital heart disease. Pediatr Cardiol 1982; 2:168-69
Splitt MP, Burn J, Goodship, J. Defects in the determination of left-right asymmetry. J Med Genet 1996; 33: 498- 503
Freed MD. The pathology, pathophysiology, recognition, and treatment of congenital heart disease. In: Fuster V, ed. Hurst's: The Heart 10th ed, Vol
New York: McGraw- Hill, 2001; 1837-904
Rose V, Izukawa T, Moes CAF. Syndromes of asplenia and polysplenia: a review of cardiac and non-cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J 1975; 37: 840-52
Van Praagh R, Weinberg PM, Smith SD, et al. Malpositions of the heart. In: Adams FH, Emmanouilides GC, Riemenschneider TA, eds. Moss' Heart Disease in Infants, Children, and Adolescents. 4th ed. Baltimore: Williams&Wilkins, 1989; 530-80. 8
Bernstein D. Cyanotic congenital heart disease: lesions associated with increased pulmonary blood flow. In: Berhman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 16th ed, Vol 2. Philadelphia: Saunders, 2000; 1395-405. Winer-Muram HT. Adult presentation of heterotaxic syndromes and related complexes. J Thorac Imaging 1995; 10: 43-57. Peoples WM, Moller JH, Edwards JE. Polysplenia: a review of 146 cases. Pediatr Cardiol 1983; 4: 129-37
Fulcher AS, Turner MA. Abdominal manifestations of situs anomalies in adults. Radiographics 2002; 22: 1439-56
Majeski JA, Upshur JK. Asplenia syndrome: a study of congenital anomalies in 16 cases. JAMA 1978; 240: 1508- 10
Stanger P, Rudolph AM, Edwards JEZ. Cardiac malpositions: an overview based on study of 65 necropsy specimens. Circulation 1977; 56: 159-72
Derbekyan VA, Pham C, Emond C, et al. Scintigraphic diagnosis of polysplenia in the adult. Clin Nucl Med 1999; 24: 161-63.