Atypical presentation of scimitar syndrome with severe hepatomegaly: a case report

Scimitar syndrome is a rare congenital disease characterized by partial or total anomalous pulmonary venous return from the right lung into the systemic venous system, and accounts for 0.5-2% of all congenital heart disease. Severe forms of the disease are diagnosed in childhood. However, because of the benign form of the syndrome in adults, many are asymptomatic, or present only mild symptoms including exertional dyspnoea, arrhythmias, and respiratory infections. We report an atypical presentation with hepatomegaly.

A 24-year-old woman was evaluated for abdominal discomfort. Physical examination revealed a remarkable hepatomegaly. Chest X-ray revealed dextroversion, enlargement of the right cavities, and a curvilinear opacity known as 'scimitar sign'. A transthoracic echocardiography demonstrated right ventricular dilation and a venous collector draining into right suprahepatic vein, which was severely dilated, with large hepatomegaly. Scimitar syndrome was confirmed by magnetic resonance imaging (MRI). Therefore, the patient underwent surgery, redirecting the pulmonary venous return to left atrium. Three months later, the patient remained asymptomatic and both the hepatomegaly and the right chamber volumes normalized.

Abdominal discomfort, as in our clinical case, is a highly atypical presentation of scimitar syndrome. It is important for physicians to be aware that diagnostic suspicion can be established from a chest X-ray, on which the scimitar sign can be distinguished in many cases. The diagnosis must be confirmed with other imaging modalities, such as echocardiography, MRI, or computed tomography. Corrective surgery may relieve the symptoms related to liver congestion at follow-up.