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
References
1.Kamath BM, Bason L, Piccoli DA, et al. Consequences of JAG1 mutations.
J Med Genet 2003;40(12):891–5.
2.Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by
mutations in human
Jagged1, which encodes a ligand for Notch1. Nat Genet
1997;16(3):243–51.
3. Kamath BM, Bauer RC, Loomes KM, et al. NOTCH2 mutations in Alagille
syndrome.
J Med Genet 2012;49(2):138–44.
4. Penton AL, Leonard LD, Spinner NB. Notch signaling in human
development and
disease. Semin Cell Dev Biol 2012;23(4):450–7.
5. McElhinney DB, Krantz ID, Bason L, et al. Analysis of cardiovascular
phenotype
and genotype-phenotype correlation in individuals with a JAG1 mutation
and/or
Alagille syndrome. Circulation 2002;106(20):2567–74.
6. Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille
syndrome in 92
patients: frequency and relation to prognosis. Hepatology
1999;29(3):822–9.
7. McGahan RK, Tang JE, Iyer MH, Flores AS, Gorelik LA. Combined Liver
Kidney Transplant in Adult Patient With Alagille Syndrome and Pulmonary
Hypertension. Semin Cardiothorac Vasc Anesth. 2021 Sep;25(3):191-195.
doi: 10.1177/10892532211008742. Epub 2021 Apr 14. PMID: 33853445.
8. Schulte-Bockholt A, Gebel M, Wittekind C, Burdelski M, Schmidt FW.
Das Alagille-Syndrom im Erwachsenenalter [The Alagille syndrome in an
adult]. Dtsch Med Wochenschr. 1990 Aug 24;115(34):1276-9. German. doi:
10.1055/s-2008-1065153. PMID: 2390942.
9. Li X, Zhang X, Leathers R, Makino A, Huang C, Parsa P et al. Notch3
signaling promotes the development of pulmonary arterial hypertension.
Nat Med 2009;15:
1289–1297.
10. Fouillade C, Monet-Leprêtre M, Baron-Menguy C, Joutel A. Notch
signalling in smooth muscle cells during development and disease.
Cardiovasc Res. 2012 Jul 15;95(2):138-46. doi: 10.1093/cvr/cvs019. Epub
2012 Jan 19. PMID: 22266753.
11. Hurst LA, Dunmore BJ, Long L, et al. TNFα drives pulmonary arterial
hypertension by suppressing the BMP type-II receptor and altering NOTCH
signalling. Nat Commun. 2017;8:14079. Published 2017 Jan 13.
doi:10.1038/ncomms14079
12. Li JS, Sexton DJ, Mick N, Nettles R, Fowler VG Jr, Ryan T, Bashore
T, Corey GR. Proposed modifications to the Duke criteria for the
diagnosis of infective endocarditis. Clin Infect Dis. 2000
Apr;30(4):633-8. doi: 10.1086/313753. Epub 2000 Apr 3. PMID: 10770721.
13. Gilbert Habib, Patrizio Lancellotti, Manuel J Antunes, Maria Grazia
Bongiorni, Jean-Paul Casalta, Francesco Del Zotti, Raluca Dulgheru,
Gebrine El Khoury, Paola Anna Erba, Bernard Iung, Jose M Miro, Barbara J
Mulder, Edyta Plonska-Gosciniak, Susanna Price, Jolien Roos-Hesselink,
Ulrika Snygg-Martin, Franck Thuny, Pilar Tornos Mas, Isidre Vilacosta,
Jose Luis Zamorano, ESC Scientific Document Group, 2015 ESC Guidelines
for the management of infective endocarditis: The Task Force for the
Management of Infective Endocarditis of the European Society of
Cardiology (ESC)
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