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2023, Number 1

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Acta Pediatr Mex 2023; 44 (1)

Congenital heart disease in kabuki syndrome. Study of 13 patients

De Rubens-Figueroa J, Gómez Díaz-Barreiro R, Yokoyama E

Language: Spanish
References: 15
Page: 1-6
PDF size: 224.60 Kb.


ABSTRACT

Introduction: Kabuki syndrome (KS) is a rare genetic condition characterized by multiple congenital malformations, neurodevelopmental delay, short stature, characteristic facial dysmorphism, congenital heart disease, and skeletal abnormalities. A frequency of 1 in 32,000 live births is estimated.
Objective: The propose of the study is to see the frequency of presentation of heart disease and the type of heart disease that occurs more frequently in patients with KS.
Materials and Methods:A retrospective, cross-sectional and observational review of the last 10 years of the records was carried out, where age, gender, clinical and cardiological characteristics, treatment and evolution were reviewed. Descriptive statistics were performed, using simple and median frequencies in the continuous variables.
Results: Thirteen patients were found with clinical manifestations of Kabuki syndrome. The main clinical features were facial dysmorphias, skeletal abnormalities, and abnormal hands. Thirty percent had heart disease, the most frequent being atrial and interventricular septal defects. Two were given medical treatment and the other two were given surgical treatment. There were no patients with aortic coarctation and or aortic dilatation in our study, although our sample was very small. To date, they all live with the Ross I classification, with a follow-up of 3 to 10 years.
Conclusions: It is recommended as soon as the diagnosis of Kabuki syndrome is made, to carry out a cardiological evaluation. The prognosis requires clinical etiological follow-up with annual visual and auditory monitoring and genetic counseling.


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