DIAGNÓSTICO DE SÍNDROME DE KABUKI EM RECÉM-NASCIDO COM CARDIOPATIA CONGÊNITA COMPLEXA: RELATO DE CASO

Abstract

Objective: To report a case of a newborn (NB) with multiple congenital heart defects associated with Kabuki Syndrome (KS). Methods: Medical record review. Case report: NB, male, pregnancy interrupted at 35 weeks due to fetal echocardiogram abnormalities, cesarean delivery, birth weight of 3140 g, history of polyhydramnios. The newborn presented with neonatal depression at birth and required mechanical ventilation. Admitted to the pediatric cardiac ICU for aortic coarctation, which underwent early surgical correction, when parachute mitral valve, ventricular septal defect, tricuspid alteration, patent foramen ovale, multicystic dysplastic kidney, Morgagni diaphragmatic hernia, and vocal cord paralysis were identified. The NB was referred for genetic evaluation, and physical examination revealed microcephaly, brachycephaly, plagiocephaly, prominent ears, arched eyebrows, long eyelashes, epicanthus, bluish sclera, high-arched palate, single right palmar crease, and short stature. The karyotype showed no relevant alterations; however, SNP-array identified a deletion in the ZFHX3 gene, associated with intellectual disability. Subsequently, exome sequencing revealed a heterozygous pathogenic variant in the KMT2D gene, confirming the clinical and molecular diagnosis of Kabuki Syndrome. Conclusion: The importance of case reports is evident for expanding the understanding of clinical and genetic phenomena associated with congenital malformations present in KS. Furthermore, the fundamental role of early recognition and diagnosis of rare genetic syndromes in the neonatal period is highlighted, as well as the integrated performance of a multidisciplinary team in the follow-up and management of these patients.