Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

Watson, G H; Miller, Vincent T.

doi:10.1136/adc.48.6.459

Cited by 228 publications

(75 citation statements)

References 12 publications

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“…Four patients at a median of 3 years of age underwent biliary diversion procedures for intractable pruritus. 13 These patients are presently 4,8,8, and 20 years old with a mean time from diversion of 6.5 years old. Three of these patients have had sustained relief from their pruritis and xanthomas since their diversion procedure.…”

Section: Resultsmentioning

confidence: 99%

“…) Alagille syndrome (AGS) is an autosomal dominant disorder that involves abnormalities of varying severity in multiple organ systems. [1][2][3][4][5][6] The diagnosis of AGS traditionally has been based on the finding of paucity of the interlobular bile ducts associated with three to five major features: chronic cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype. The phenotypic findings in AGS are highly variable in severity and clinical significance.…”

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confidence: 99%

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Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Emerick¹,

Rand²,

et al. 1999

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We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of clinical manifestations and to correlate the clinical findings with outcome. Liver biopsy specimens showed paucity of the interlobular ducts in 85% of patients. Cholestasis was seen in 96%, cardiac murmur in 97%, butterfly vertebrae in 51%, posterior embryotoxon in 78%, and characteristic facies in 96% of patients. Renal disease was present in 40% and intracranial bleeding or stroke occurred in 14% of patients. The presence of intracardiac congenital heart disease was the only clinical feature statistically associated with increased mortality (P F .001). Initial measures of hepatic function in infancy including absence of scintiscan excretion were not predictive of risk for transplantation or increased mortality. The hepatic histology of these AGS patients showed a significant increase in the prevalence of bile duct paucity (P ‫؍‬ .002) and fibrosis (P F .001) with increasing age. Liver transplantation for hepatic decompensation was necessary in 21% (19 of 92) of patients with 79% survival 1-year posttransplantation. Current mortality is 17% (16 of 92). The factors that contributed significantly to mortality were complex congenital heart disease (15%), intracranial bleeding (25%), and hepatic disease or hepatic transplantation (25%). The 20-year predicted life expectancy is 75% for all patients, 80% for those not requiring liver transplantation, and 60% for those who required liver transplantation. (HEPATOLOGY 1999;29:822-829.)

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Section: Resultsmentioning

confidence: 99%

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confidence: 99%

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Emerick¹,

Rand²,

et al. 1999

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“…3 Vascular anomalies have been noted in AGS from some of the earliest descriptions of this syndrome. 4,5 Indeed, even the alternative name for the condition, arteriohepatic dysplasia, recognizes the vascular contribution. Pulmonary artery involvement is a hallmark feature of the condition and one of the most common manifestations.…”

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confidence: 99%

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

Kamath¹,

Spinner²,

Emerick³

2004

ACC Current Journal Review

132

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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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“…• In the heart: pulmonic valvular stenosis as well as peripheral arterial stenosis • In the bones: abnormal vertebrae (butterfly vertebrae) and decrease in interpediculate distance in the lumbar spine • In the nervous system: absent deep tendon reflexes and poor school performance • In the facies: broad forehead, pointed mandible, and bulbous tip of the nose • In the fingers: varying degrees of foreshortening (41,42) • The syndrome has an autosomal dominant inheritance, and the gene is located at 20p12 (43). Most often, AGS leads to chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%.…”

Section: Renal Cyst and Ocular Abnormalitiesmentioning

confidence: 99%

Eye and Kidney

Izzedine¹,

Bodaghi

Launay-Vacher³

et al. 2003

Journal of the American Society of Nephrology

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Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

Cited by 228 publications

References 12 publications

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

Features of Alagille Syndrome in 92 Patients: Frequency and Relation to Prognosis

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

Eye and Kidney

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