Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Dec;54(4):338-342.
doi: 10.1182/ject-2200022.

Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution

Ashley C Moore  1 , Kyle N Sieck  1 , Sarah J Lojovich  1 , Roger P Mueller  1 , Jason E Windle  1 , Sameh M Said  2
Affiliations
Case Reports

Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution

Ashley C Moore et al. J Extra Corpor Technol. 2022 Dec.

Abstract

Alagille syndrome is an autosomal dominant disorder that is caused by heterozygous mutation of JAG1 or NOTCH2 gene that impacts several multisystem organs including but may not be limited to the liver, heart, musculoskeletal, skin, and the eyes. The most common congenital heart defect associated with Alagille syndrome is multilevel right ventricular outflow tract obstruction with multiple central and peripheral branch pulmonary arterial stenoses occurring in up to two-thirds of these patients. We report two cases of Alagille syndrome who underwent extensive pulmonary arterial branch rehabilitation and experienced unusual oxygenator failure during cardiopulmonary bypass (CPB). We present lessons learned from these two cases and the changes that we implemented in our practice that facilitated smooth conduct of CPB in other cases that we performed subsequently.

Keywords: Alagille syndrome; oxygenator failure.; pulmonary arterioplasty; pulmonary artery reconstruction.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Branch pulmonary arteries as shown by 3D reconstruction of the computed tomographic (CT) scan (A) preoperatively and (B) after reconstruction.
Figure 2.
Figure 2.
Graph showing the timeline and events for the pump oxygenator in case 1.
Figure 3.
Figure 3.
Branch pulmonary arteries as shown by 3D reconstruction of the computed tomographic (CT) scan (A) preoperatively and (B) after reconstruction.
Figure 4.
Figure 4.
Graph showing the timeline and events for the pump oxygenator in case 2.
See this image and copyright information in PMC

References

    1. Mitchell E, Gilbert M, Loomes KM. Alagille syndrome. Clin Liver Dis. 2018;22:625–41. - PubMed
    1. Turnpenny PD, Ellard S. Alagille syndrome: Pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20:251–7. - PMC - PubMed
    1. Emerick KM, Rand EB, Goldmuntz E, et al. . Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 1999;29:822–9. - PubMed
    1. 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;106:2567–74. - PubMed
    1. Mainwaring RD, Sheikh AY, Punn R, et al. . Surgical outcomes for patients with pulmonary atresia/major aortopulmonary collaterals and Alagille syndrome. Eur J Cardiothorac Surg. 2012;42:235–41. - PubMed

Publication types

MeSH terms