Giresun Syndrome

Giresun syndrome is a rare medical condition characterized by total situs inversus (SIT), liver cirrhosis, and cardiac ascites resulting from heart failure. It was first described by the Department of Gastroenterology, Faculty of Medicine, Giresun University in Türkiye and has been recorded in medical literature under the name “Giresun syndrome.” This syndrome, recognized as the first case in the literature in which SIT coexisted with cardiac ascites, is defined by the mirror-image reversal of all abdominal organs and associated liver failure.

SIT is a congenital anomaly characterized by the mirror-image displacement of internal organs. While SIT alone is rare, the simultaneous reversal of all organs and the subsequent development of cirrhosis is exceedingly uncommon. Giresun syndrome was identified through the observation of this combined clinical picture, with the first documented case recorded in 2024.

Clinical Findings

In Giresun syndrome, patients exhibit abdominal fluid accumulation and tenderness, pretibial edema in the legs, dyspnea, weakness, and fatigue.

Laboratory findings vary depending on the patient’s condition; the initial reported case showed the following results:^【1】

• White blood cell count: 7,290/mm³
• Hemoglobin: 9.9 g/dL
• Platelets: 401,000/mm³
• Liver enzymes (AST/ALT): 20/15 U/L
• Total protein/Albumin: 8.0/3.5 g/dL
• Bilirubin: 1.43 mg/dL
• Prothrombin time: 15.3 seconds
• BNP (proBNP): 3,883 pg/mL
• Ferritin: 150 ng/mL
• Ceruloplasmin: 29 ng/dL
• α1-antitrypsin: 230 mg/dL

Additionally, serological markers for hepatitis B and C, autoimmune hepatitis, and other liver diseases were negative.

Imaging and Diagnostic Findings

In the first documented case, transthoracic echocardiography revealed dextrocardia, biatrial dilation, moderate tricuspid regurgitation, and a left ventricular ejection fraction of 35%. Abdominal ultrasonography demonstrated the liver located in the left upper quadrant and the spleen in the right upper quadrant, confirming the mirror-image reversal of these organs. Chest radiography showed mild cardiomegaly, dextrocardia, and bilateral pleural effusions. Paracentesis revealed moderate ascites, with a serum-ascites albumin gradient (SAAG) of 1.4 g/dL and total protein of 4.6 g/dL. No signs of neutrophilic peritonitis were observed. Based on laboratory and radiological data, the diagnosis of cardiac ascites was confirmed.

Visualization of the Body in Giresun Syndrome (YouTube)

Pathophysiology

Giresun syndrome involves the organ displacement caused by SIT, leading to impaired function of the cardiac and hepatic systems. The mirror-image rearrangement of organs compromises the normal physiological roles of the heart and liver. Hepatic dysfunction gradually progresses to cirrhosis. If untreated, cirrhosis can become life-threatening and may necessitate liver transplantation.

Treatment and Management

The treatment of Giresun syndrome is symptomatic and supportive. Fluid accumulation in the abdomen is managed through sodium restriction and diuretic therapy. If heart failure is present, appropriate cardiological interventions are implemented. Liver function is monitored regularly. Conservative treatment aims to alleviate symptoms. Management is planned through interdisciplinary team collaboration.

Place in the Literature

Giresun syndrome has been documented in the literature as the first reported case of SIT occurring with cardiac ascites. The initial case involved a 27-year-old male patient. This description contributes to the clinical, laboratory, and imaging characterization of a rare syndrome. It was introduced to the medical literature by the Department of Gastroenterology, Faculty of Medicine, Giresun University, through presentations at national and international congresses.

Doctors Prof. Dr. Ahmet Cumhur Dülger and Dr. Gökhan Aydın from the Department of Gastroenterology, Faculty of Medicine, Giresun University (Giresun Education and Research Hospital)

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