A new case has been reported of infective endocarditis along with pulmonary hypertension in a man with Alagille syndrome (ALGS).

The case, published in Authorea, noted this is the first known case of ALGS with pulmonary hypertension without a cardiac defect.

“According to literature, it is seen that pulmonary hypertension generally develops in the setting of pulmonary stenosis in patients with Alagille syndrome,” the authors wrote. “However, recent studies have shown that pulmonary hypertension may develop as a result of disorders in the Notch gene pathway. The NOTCH mutation seen in our patient may have contributed to the development of group 1 pulmonary hypertension without cardiac anomaly.”

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The patient was a 26-year old man who presented with ALGS, end-stage chronic kidney disease, low blood pressure, and coagulase-negative staphylococcus growth in his blood culture. He had group 1 pulmonary hypertension and was undergoing treatment with intravenous epoprostenol + phosphodiesterase 5 inhibitor + endothelin receptor antagonist, which had improved his functional capacity.

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Cardiac magnetic resonance imaging revealed severe global left ventricular hypokinesia (left ventricle ejection fraction, 28%), a severe aortic regurgitation fraction of 50%, mild mitral regurgitation, and severe tricuspid regurgitation. He was also diagnosed with infective endocarditis based on Duke criteria.

The recommended treatment was surgery for emergent aortic valve replacement. However, due to a very high mortality risk (EuroSCORE II over 40%), the patient and his family declined the procedure. They requested he be discharged; he experienced sudden cardiac death 4 months later.

The authors note that in cases of severe acute mitral or aortic regurgitation and heart failure or poor hemodynamic tolerance in the context of infective endocarditis, cardiac surgery is strongly recommended.


Özmen E, Bingol G, Özden Tok Ö, et al. A rare and challenging case: infective endocarditis and pulmonary hypertension in a patient with Alagille Syndrome and bicuspid aortic valve. Authorea. Published online October 24, 2022. doi:10.22541/au.166662401.13586287/v1