Cruveilhier-Baumgarten syndrome

Overview

Cruveilhier-Baumgarten syndrome is a rare clinical condition associated with portal hypertension in the setting of a patent umbilical vein. It is characterized by the presence of prominent abdominal wall veins radiating from the umbilicus (caput medusae), a venous hum heard over the abdomen, and signs of liver dysfunction or cirrhosis. The syndrome is named after Jean Cruveilhier and Paul Clemens von Baumgarten, who described the persistence of the umbilical vein in adults with liver disease.

Causes

The primary cause of Cruveilhier-Baumgarten syndrome is portal hypertension, which develops due to increased resistance to blood flow in the liver, most commonly from cirrhosis. This increased pressure leads to the reopening (recanalization) of the fetal umbilical vein, which normally closes after birth. Causes include:

• Cirrhosis of the liver: Most common underlying condition, often due to chronic alcohol use, hepatitis B or C, or nonalcoholic fatty liver disease

• Portal vein thrombosis: Blockage of the portal vein by a blood clot

• Congenital hepatic fibrosis or other hepatic vascular disorders

Symptoms

The hallmark features of Cruveilhier-Baumgarten syndrome are related to the collateral circulation that develops due to portal hypertension. Common signs and symptoms include:

• Caput medusae: Dilated, tortuous veins radiating from the umbilicus across the abdomen

• Venous hum: A continuous venous murmur heard on auscultation over the abdomen, particularly near the umbilicus

• Signs of chronic liver disease: Jaundice, ascites, hepatomegaly, and splenomegaly

• Gastrointestinal bleeding: Due to esophageal or gastric varices (in severe portal hypertension)

• Fatigue and weight loss: Associated with liver dysfunction

Diagnosis

Diagnosis of Cruveilhier-Baumgarten syndrome involves clinical examination along with imaging and laboratory tests to assess liver function and portal hypertension. Diagnostic steps include:

• Physical exam: Identification of caput medusae and auscultation of a venous hum over the umbilicus

• Ultrasound with Doppler: To visualize a patent umbilical vein and assess portal vein flow

• CT or MRI scans: Detailed imaging of liver structure and vascular anatomy

• Liver function tests: To assess the extent of hepatic dysfunction (e.g., ALT, AST, bilirubin, albumin)

• Endoscopy: To evaluate for varices if gastrointestinal bleeding is suspected

Treatment

Treatment of Cruveilhier-Baumgarten syndrome focuses on managing the underlying portal hypertension and associated complications. Common management strategies include:

• Medical management: Beta-blockers (e.g., propranolol) to reduce portal pressure and prevent variceal bleeding

• Diuretics and sodium restriction: For managing ascites

• Endoscopic therapy: Band ligation or sclerotherapy for bleeding varices

• Transjugular intrahepatic portosystemic shunt (TIPS): A procedure to reduce portal pressure in refractory cases

• Liver transplantation: For end-stage liver disease or decompensated cirrhosis

• Monitoring and supportive care: Regular follow-up, alcohol cessation, antiviral therapy (if applicable), and nutritional support

Prognosis

The prognosis of Cruveilhier-Baumgarten syndrome depends largely on the severity and progression of the underlying liver disease. In patients with well-compensated cirrhosis and controlled portal hypertension, long-term management may be successful. However, those with advanced liver dysfunction face a poorer prognosis and may ultimately require liver transplantation. Early recognition and control of portal hypertension can reduce complications such as variceal bleeding and ascites, improving quality of life and survival.