Alagille syndrome with pulmonary hypertension

Case contributed by Rachael O'Rourke
Diagnosis certain


Known Alagille syndrome with previous surgery to correct partial anomalous pulmonary venous return (RUL to SVC) with a right upper lobe pulmonary vein to left atrial baffle. Previous surgical enlargement of the left pulmonary artery. Follow-up imaging to assess status of the right pulmonary artery.

Patient Data

Age: 20 years
Gender: Male

Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.

Pulmonary MRA and perfusion study clearly demonstrate left upper lobe pulmonary artery occlusion and right lower lobe segmental stenoses. Multiple segmental and subsegmental stenoses are also discernible within the right upper and left lower lobes. Systemic vessel from the left chest wall and bronchial artery branches supply the underperfused pulmonary lobes. These features are not demonstrated as well on CT pulmonary angiography (CTPA).

Corresponding large left upper lobe pulmonary perfusion defect.

Corresponding large right lower lobe pulmonary perfusion defect.

Sagittal MRA showing multiple left lower lobe subsegmental stenoses, particularly affecting the anterobasal and basolateral segmental arteries.

Cardiac 4 chamber steady state free precession (SSFP) demonstrates right ventricular hypertrophy with septal bowing to the left, which indicates development of associated pulmonary hypertension.

Axial post contrast CT - loss of vessels can be seen with careful observation, with poor visualization of the number, location and morphology of stenoses and occlusions.

Coronal post contrast CT lung windows - perfusion abnormality is discernible with careful observation within the right lower lobe.

Coronal post contrast CT - under appreciates extent of vascular abnormality compared to MRA.

Case Discussion

Alagille syndrome is associated with peripheral pulmonary artery stenosis which can cause pulmonary perfusion defects, leading to systemic recruitment of vessels and pulmonary hypertension. This is well demonstrated in a young patient via cardiac MRI including pulmonary perfusion and MRA, allowing for assessment of the right heart function, pulmonary artery dimensions, disease distribution and severity, without the need for ionizing radiation.

Previous CTPA was reported as mild narrowing of the right main pulmonary artery only. Changes within the left upper lobe and lower lobe segmental vessels were not well demonstrated. In contrast to MRI, CTPA uses ionizing radiation and can underestimate the extent and severity of the disease with no assessment of pulmonary perfusion and right heart function. Cardiac MRI and pulmonary MRA is therefore the modality of choice where available.

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