Dataset Information

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

ABSTRACT:

Background

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.

Case summary

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.

Discussion

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.

SUBMITTER: Cruz-Galban A

PROVIDER: S-EPMC8374964 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Testicular choriocarcinoma is a relatively rare malignancy with a highly aggressive nature. Timely diagnosis and treatment can help prolong the survival of patients and even cure them. This case reports a 29-year-old male who presented to the clinic for a month with epigastric pain. On examination, a massive mass of approximately 9*10 cm could be palpated in the upper abdomen. When asked about his previous history, the patient only described a history of a right inguinal hernia that had been repaired 12 years earlier. The admission diagnosis was considered the retroperitoneal tumor, which was found to have metastasized to the liver and lungs after the completion of relevant tests. We then performed a CT-guided lune puncture biopsy on day 8 of admission. The biopsy pathology suggested metastatic cancer was considered. As the symptoms of tumor compression gradually worsened, we performed surgical treatment (retroperitoneal tumor resection + partial duodenal resection + enteroanastomosis) on day 13 of admission. The postoperative pathology was choriocarcinoma. We subsequently conducted a detailed inquiry with the patient's family about his medical history and found a history of inguinal testicle. Through testicular ultrasound examination, it was preliminarily determined to be testicular choriocarcinoma (not yet pathologically confirmed). We wanted to start salvage chemotherapy as soon as possible after surgery. However, the patient's postoperative condition was poor, with rapid progression of hepatopulmonary metastases and gradually increased thyrotoxicosis, and we started salvage chemotherapy (EP regimen: etoposide and cisplatin) on postoperative day 12. However, the patient was forced to stop due to a severe chemotherapy reaction and died of respiratory and cardiac arrest in the hospital. For male patients with retroperitoneal mass, the possibility of germ-cell neoplasm should first be excluded. By inquiring in detail about a history of cryptorchidism and in the initial days of hospitalization, testicular exploration, ultrasounds, and serum tumor markers (AFP, β-HCG) tests can be conducted to rule out the possibility of germ-cell neoplasm, thereby preventing misdiagnosis and treatment delays. If the clinical diagnosis is metastatic germ-cell tumor with severe symptoms of metastatic disease, surgery should never be used as the initial treatment.