Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality

Kamath, B.M; Spinner, M.B; Emerick, E.M

doi:10.1016/j.accreview.2004.06.033

Cited by 86 publications

(139 citation statements)

References 14 publications

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“…In terms of pathophysiology, attention has been given to the possibility that AGS is essentially a defect of vasculogenesis (Kamath et al, 2004). Apart from the frequency of congenital heart disease, it has become clear that other forms of vascular anomaly occur frequently, in up to 9% of AGS patients.…”

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

“…Apart from the frequency of congenital heart disease, it has become clear that other forms of vascular anomaly occur frequently, in up to 9% of AGS patients. In the review of Kamath et al (2004), there were patients with aneurysms of the basilar arteries, middle cerebral arteries, and aorta, and some had structural anomalies of the internal carotid arteries. From a total of 268 patients reviewed, 25 (9%) had significant noncardiac vascular anomalies and a further 9 subjects had intracranial events in the absence of documented intracranial vascular anomalies.…”

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

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Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

145

120

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Abnormal vertebral segmentation (AVS) in man is a relatively common congenital malformation but cannot be subjected to the scientific analysis that is applied in animal models. Nevertheless, some spectacular advances in the cell biology and molecular genetics of somitogenesis in animal models have proved to be directly relevant to human disease. Some advances in our understanding have come through DNA linkage analysis in families demonstrating a clustering of AVS cases, as well as adopting a candidate gene approach. Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD). SCD is characterized by extensive hemivertebrae, trunkal shortening, and abnormally aligned ribs with points of fusion. In familial cases clearly following a Mendelian pattern, autosomal recessive inheritance is more common than autosomal dominant and the genes identified are functional within the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing.

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Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

Section: Alagille Syndrome (Arteriohepatic Dysplasia) Jagged1 and Nomentioning

confidence: 99%

Abnormal vertebral segmentation and the notch signaling pathway in man

Turnpenny

Alman

Cornier

et al. 2007

Developmental Dynamics

145

120

View full text Add to dashboard Cite

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“…A more substantial consideration relates to the possibility that ALGS is primarily a vasculopathy. The vascular anomalies of ALGS are widespread, 29 prompting the notion that at least some of the effects are traceable to abnormalities of angiogenesis and the vascular system. There is evidence that the formation of mature tubular bile ducts follows on from development of the intrahepatic arterial network.…”

Section: Pathogenesismentioning

confidence: 99%

“…29 Intracranial bleeding may occur as a consequence of relatively minor head trauma. Studies have identified anomalies of the basilar, carotid, and middle cerebral arteries, 29,30 and renovascular anomalies, middle aortic syndrome, and Moyamoya syndrome have all been reported. The vascular aspects of ALGS are considered further in the next section.…”

Section: Vascular Eventsmentioning

confidence: 99%

Alagille syndrome: pathogenesis, diagnosis and management

2011

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“…A number of other genetic syndromes have been reported in association with aortic disease, including but not limited to: Weill-Marchesani syndrome (ADAMTS10 and FBN1) [13]; congenital contractural arachnodactyly (resembles MFS, is characterised by crumpled ears, scoliosis, joint contractures and FBN2 mutations) [14]; Noonan syndrome (mutations in the RAS-MAPK signalling pathway) [15,16]; Alagille syndrome (JAG1) [17] ; X-linked dominant periventricular nodular heteropia, EDS variant (FLNA) [18] and Shprintzen-Goldberg syndrome (SK1) [19].…”

Section: Othermentioning

confidence: 99%

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Zentner

West

Adès

2017

Heart, Lung and Circulation

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Key Points1. A number of inherited conditions can predispose the aorta, and less commonly other blood vessels, to dilatation and/ or rupture.2. Broadly speaking, these conditions are recognised as syndromic when accompanied by a number of systemic features or non-syndromic when the aortic dilatation appears to exist in isolation.3. The commonest syndromic aortopathy is Marfan syndrome and the commonest nonsyndromic aortopathy is that which accompanies congenital bicuspid aortic valve.4. Mutations in a number of genes have been identified, particularly in syndromic aortopathy.5. Although genotype-phenotype relationships exist, the phenotypes of the syndromic aortopathies may have significant overlap .6. When a syndromic aortopathy is suspected, review by a clinical geneticist is instrumental in characterising the clinical signs and the family history.7. Confirmation of a diagnosis (either clinically or by gene testing) allows identification of individuals at increased risk of aortic sequelae who will benefit from active medical management.8. Medical management is usually undertaken by a cardiologist with referral to other specialists (eg cardiothoracic surgeons) as appropriate.9. At risk family members should be offered predictive testing if a mutation is identified, and should otherwise be screened in keeping with the presumptive clinical diagnosis and assessment of risk.10. Pregnancy and the post-partum period confer a higher risk for aortic complications: a. Women with a personal or family history of aortopathy need appropriate preconception screening and counseling.b. Intervention may be required pre-conception and they should be managed closely throughout pregnancy, ideally in a high-risk obstetric clinic. A c c e p t e d M a n u s c r i p t 3 pregnancy, beta blockers can be used in pregnancy) and should include involvement of a cardiologist in the management and decision making for delivery.11. A clinical diagnosis of an inherited aortopathy can be made in the absence of a positive genetic test if the systemic features are consistent with a specific syndromic aortopathy. A familial history of aortic dissection in the absence of both a positive gene test and systemic examination findings may be more difficult to manage without a working clinical diagnosis. However, an inherited risk of dissection should nonetheless be considered in this setting, particularly if the process has affected young individuals and/or in the absence of traditional risk factors.

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Vascular anomalies in Alagille Syndrome: a significant cause of morbidity and mortality

Cited by 86 publications

References 14 publications

Abnormal vertebral segmentation and the notch signaling pathway in man

Abnormal vertebral segmentation and the notch signaling pathway in man

Alagille syndrome: pathogenesis, diagnosis and management

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

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