Key result
Multifocal inflammatory pseudotumour presents with ventricular premature beats in an adolescent with Kabuki syndrome.
Why the study?
Kabuki syndrome is associated with cardiac anomalies, but the occurrence of inflammatory pseudotumours presenting as cardiac masses in this population is rare and not well characterized.
Case Report (n=1)
This case illustrates a potential association between Kabuki syndrome and multifocal inflammatory pseudotumours, highlighting the importance of multimodality imaging.
Raises possibility of cardiac valve pseudotumour in Kabuki syndrome; leaves open causal link pending larger studies.
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.
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Elaakib et al. (2026) conducted a case report in Kabuki syndrome and multifocal inflammatory pseudotumour (n=1). Kabuki syndrome was evaluated on Diagnosis of multifocal inflammatory pseudotumour. A 17-year-old adolescent with Kabuki syndrome presenting with ventricular premature beats was diagnosed with a rare multifocal inflammatory pseudotumour involving the heart, colon, and liver.
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