How are Congenital Portosystemic Shunts usually diagnosed?

As a relatively new diagnosis, we still don’t know how often CPSS occur. Intrahepatic porto-hepatic shunts seem to be the most frequent form with a high rate of spontaneous closure during the first months of life. Spontaneous closure is exceptional in the other anatomical forms (patent Ductus Venosus or extrahepatic CPSS).

CPSS are usually diagnosed on imaging, mostly with the US. Circumstances for diagnosis are various. Sometimes they can be diagnosed in patients without any symptoms even prenatally, but they can also be detected based on signs of liver disorder, neuropsychological disorder, gastrointestinal complications, vascular disorders or cardiopulmonary complications.

Signs & symptoms

There is a wide range of complications encountered in patients with CPSS. The following table shows some of them.





	SystemsPresenting signs and symptoms






	LiverAbnormal liver test - Hyperammonemia - Benign or malignant liver tumor - small liver




	Gastrointestinal, renal and abdominalSpleen and kidney malformations - Esophagus and intestine malformations - Kidney malformations - other renal disorders (blood or protein in urine)




	NeuropsychologicalNeurodevelopment delay - Impaired concentration and attention - Seizures




	Cardiac and vascular	Shortness of breath - Loss of consciousness - Cardiomegaly - Enlarged heart




	Other signs and symptoms	Hypothyroidism - Overgrowth- Hypoglycemia- small weight at birth










	SystemsPresenting signs and symptoms






	LiverAbnormal liver test - Hyperammonemia - Benign or malignant liver tumor - small liver




	Gastrointestinal, renal and abdominalSpleen and kidney malformations - Esophagus and intestine malformations - Kidney malformations - other renal disorders (blood or protein in urine)




	NeuropsychologicalNeurodevelopment delay - Impaired concentration and attention - Seizures




	Cardiac and vascular	Shortness of breath - Loss of consciousness - Cardiomegaly - Enlarged heart




	Other signs and symptoms	Hypothyroidism - Overgrowth- Hypoglycemia- small weight at birth

Diagnosis and Follow up

A complete workup to search for complications can be done, especially after 1-year-old.

Imaging technics are very important for the diagnosis and the evaluation of CPSS before treatment. For example, Computed tomography scanner gives important information on the anatomy of the vessels and the malformation, the presence of liver nodules and associated disorders.
Doppler ultrasound
Reconstruction of a computed tomography scanner showing the anatomy of the malformation
Angiography showing the direct opacification of the malformation via a catheter placed in the veins
How are CPSS managed?