Extrasystoles Indicating a Cardiopseudotumor in Kabuki Syndrome: A Case Report and Literature Review

Abstract

Kabuki syndrome is a rare genetic disorder characterised by a malformation syndrome involving typical facial dysmorphism, psychomotor retardation, and visceral anomalies, particularly cardiac and gastrointestinal anomalies. We report the case of a 17-year-old adolescent with Kabuki syndrome, diagnosed in childhood, who was admitted with atypical chest pain and palpitations. The electrocardiogram revealed isolated ventricular premature beats. Transthoracic echocardiography and cardiac MRI revealed a rounded, benign-appearing mass attached to a heart valve. Systemic imaging also showed hypervascular colonic thickening and a suspicious liver lesion. Histopathological examination of the colonic lesion showed an inflammatory, non-malignant process. The combined clinical, radiological, and histological findings led to a diagnosis of multifocal inflammatory pseudotumour. This rare case illustrates the value of a multidisciplinary approach and suggests a possible association between Kabuki syndrome and inflammatory tumour processes.