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Órgano Oficial del Instituto Nacional de Pediatría

2021, Number 4

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Acta Pediatr Mex 2021; 42 (4)

Characteristics of cardiovascular disorders in children with Alagille Syndrome

De Rubens-Figueroa J, Vázquez P, Montijo-Barrios E

Language: Spanish
References: 14
Page: 163-169
PDF size: 348.31 Kb.


ABSTRACT

Background: Alagille syndrome is an autosomal recessive disease with mutation in the JAG 1 and NOTCH 2 genes, with manifestations in different organs and systems; one of the most affected is the heart.
Objective: To describe the type of cardiovascular involvement and its evolution in patients with Alagille syndrome.
Material and Methods: Observational, retrospective and descriptive study consisting of a review of the records of patients aged 0 to 18 years with Alagille syndrome seen in the last 10 years at the National Institute of Pediatrics. Age, gender, weight, diagnostic criteria of the disease, type of heart disease, treatment of the heart disease and prognosis were analyzed. Means and proportions were analyzed for age and gender, and frequency percentages for heart disease.
Results: We found 16 patients with Alagille syndrome: 10 male and 6 female. The age at diagnosis of the syndrome had a mean of 21.5 months and a median of 13.5 months. In 14 patients the diagnosis was established with liver biopsy and in 2 with 6 clinical diagnostic criteria. All met at least 3 major criteria. The 3 clinical criteria that coincided in all 16 patients were cholestasis, characteristic facies, and weight and height arrest. Eleven patients (68%) had cardiovascular disease.
Conclusions: Pulmonary branch stenosis is the most frequent cardiovascular alteration found in children with Alagille syndrome. In patients with abnormal facies, cholestasis, growth arrest and heart murmur, Alagille syndrome with cardiovascular alteration should be suspected. Patients with peripheral pulmonary branch stenosis were associated with other cardiac lesions.


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