Extrasystoles Indicating a Cardiopseudotumor in Kabuki Syndrome: A Case Report and Literature Review
K. Elaakib *
Department of Cardiology, Arrazi Hospital, Mohammed VI University Hospital Center Marrakech, Morocco.
F. Haffane
Department of Cardiology, Arrazi Hospital, Mohammed VI University Hospital Center Marrakech, Morocco.
A. Aityahya
Department of Cardiology, Arrazi Hospital, Mohammed VI University Hospital Center Marrakech, Morocco.
J. Elmasriou
Department of Cardiology, Arrazi Hospital, Mohammed VI University Hospital Center Marrakech, Morocco.
S. Elkarimi
Department of Cardiology, Arrazi Hospital, Mohammed VI University Hospital Center Marrakech, Morocco.
M. EL Hattaoui
Department of Cardiology, Arrazi Hospital, Mohammed VI University Hospital Center Marrakech, Morocco.
*Author to whom correspondence should be addressed.
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.
Keywords: Kabuki syndrome, cardiac mass, ventricular extrasystoles, inflammatory pseudotumour, cardiac MRI, clinical case