Conclusions
Cardiovascular involvement may be in Alagille syndrome.
Pulmonary hypertension in Alagille syndrome can be seen associated with congenital defects such as pulmonary valve stenosis. In patients with and Alagille syndrome who do not have congenital heart defects; pulmonary hypertension could be associated with NOTCH gene mutations
Figure and Video Legends
Figure 1: Continuous wave doppler image shows estimated pulmonary artery systolic pressure of 71 mmHg from severe tricuspid regurgitation
Figure 2: Cardiac magnetic resonance image of Sievert type 1 bicuspid aortic valve
Supplementary video 1: Color doppler image of severe tricuspid regurgitation from apical 4 chamber window
Supplementary video 2: Color doppler image of eccentric aortic regurgitation from apical 5 chamber window. Due to jets eccentricity cardiac magnetic resonance imaging is performed to determine the severity of regurgitation.
Supplementary video 3: Vegetation on ventricular side of aortic valve is shown in apical 5 chamber window. Patients left ventricle ejection fraction is 35%.
Supplementary video 4: Zoomed view of aortic valve vegetation
Patient Consent
Patient in this case report gave written consent to the publication of his case.
Funding Information
None
Conflict of Interest
None
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Endorsed by: European Association for Cardio-Thoracic Surgery (EACTS), the European Association of Nuclear Medicine (EANM), European Heart Journal, Volume 36, Issue 44, 21 November 2015, Pages 3075–3128, https://doi.org/10.1093/eurheartj/ehv319