The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality
Open accessAbstract
Background—Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to characterize the nature and spectrum of vascular anomalies in AGS. Methods and Results—Retrospective chart review of 268 individuals with AGS was performed. Twenty-five patients (9%) had noncardiac vascular anomalies or events. Sixteen patients had documented structural vascular abnormalities. Two had basilar artery aneurysms, 7 had internal carotid artery anomalies, and another had a middle cerebral artery aneurysm. Moyamoya disease was described in 1 patient. Three of the 16 patients had aortic aneurysms, and 2 had aortic coarctations. One of the patients with a basilar artery aneurysm also had coarctation of the aorta. One of the individuals with an internal carotid artery anomaly also had renal artery stenosis. Nine more patients had intracranial events without documented vessel abnormalities. Vascular accidents accounted for 34% of the mortality in this cohort. Conclusions—The vascular anomalies described in our cohort of AGS individuals identify an underrecognized and potentially devastating complication of this disorder. It is a major cause of morbidity and mortality in this population, accounting for 34% of the mortality. We have also reviewed the body of evidence supporting a role for Jagged1 and the Notch signaling pathway in vascular development.
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Cites
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cécillion, M., Maréchal, E., et al. (1996) · Nature · doi:10.1038/383707a0 · Cited by 2,068
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-243 · Cited by 1,284
Self-citationNotch signaling is essential for vascular morphogenesis in mice
Krebs, L. T., Xue, Y., Norton, C. R., Shutter, J. R., Maguire, M., Sundberg, J. P., Gallahan, D., Closson, V., Kitajewski, J., Callahan, R., et al. (2000) · Genes & Development · doi:10.1101/gad.14.11.1343 · Cited by 1,060
Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged1
Xue, Y., Gao, X., Lindsell, C. E., Norton, C. R., Chang, B., Hicks, C., Gendron-Maguire, M., Rand, E. B., Weinmaster, G., & Gridley, T. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.723 · Cited by 762
Alagille, D., Estrada, A., Hadchouel, M., Gautler, M., Odièvre, M., & Dommergues, J. P. (1987) · The Journal of Pediatrics · doi:10.1016/s0022-3476(87)80153-1 · Cited by 662
Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis
Emerick, K. M., Rand, E. B., Goldmuntz, E., Krantz, I. D., Spinner, N. B., & Piccoli, D. A. (1999) · Hepatology · doi:10.1002/hep.510290331 · Cited by 660
Self-citationDll4, a novel Notch ligand expressed in arterial endothelium
Shutter, J. R., Scully, S., Fan, W., Richards, W. G., Kitajewski, J., Deblandre, G. A., Kintner, C. R., & Stark, K. L. (2000) · Genes & Development · doi:10.1101/gad.14.11.1313 · Cited by 519
Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels
Villa, N., Walker, L., Lindsell, C. E., Gasson, J., Iruela-Arispe, M. L., & Weinmaster, G. (2001) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00469-5 · Cited by 429
Schoenberg, B. S., Mellinger, J. F., & Schoenberg, D. G. (1978) · Neurology · doi:10.1212/wnl.28.8.763 · Cited by 421
Vascular patterning defects associated with expression of activated Notch4 in embryonic endothelium
Uyttendaele, H., Ho, J., Rossant, J., & Kitajewski, J. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.091584598 · Cited by 287
Cited by
Notch signaling in human development and disease
Penton, A. L., Leonard, L. D., & Spinner, N. B. (2012) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2012.01.010 · Cited by 332
Self-citationFirst international consensus on the diagnosis and management of fibromuscular dysplasia
Gornik, H. L., Persu, A., Adlam, D., Aparicio, L. S., Azizi, M., Boulanger, M., Bruno, R. M., De Leeuw, P., Fendrikova-Mahlay, N., Froehlich, J., et al. (2019) · Journal of Hypertension · doi:10.1097/hjh.0000000000002019 · Cited by 113
Metadata
- Authors
- Kamath, B. M., Spinner, N. B., Emerick, K. M., Chudley, A. E., Booth, C., Piccoli, D. A., & Krantz, I. D.
- Venue
- Circulation
- Published
- 2004-03-23
- Volume
- 109
- Issue
- 11
- Pages
- 1354-1358
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2157244334
- Cited by
- 361
- References
- 20
- FWCI
- 15.15
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality. https://app.cochat.ai/papers/10.1161/01.cir.0000121361.01862.a4
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- Kamath, B. M., Spinner, N. B., Emerick, K. M., Chudley, A. E., Booth, C., Piccoli, D. A., & Krantz, I. D. (2004). Vascular Anomalies in Alagille Syndrome: A Significant Cause of Morbidity and Mortality. Circulation. https://doi.org/10.1161/01.cir.0000121361.01862.a4
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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