Alagille syndrome with pulmonary hypertension

Case contributed by Dr Rachael O'Rourke


Known Alagille syndrome with previous surgery to correct partial anomolous 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: 21
Gender: Male

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 via CTPA

Right ventricular hypertrophy with septal bowing to the left indicates development of associated pulmonary hypertension.


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 imaging 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 does require 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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Case information

rID: 49384
Published: 22nd Nov 2016
Last edited: 14th Aug 2019
Inclusion in quiz mode: Excluded

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