Gerbode Defect, Ebstein Anomaly And Wolff-Parkinson-White In Patient With Down Syndrome. Never Say Never . . .

We described a unique case of a 15-year-old Down Syndrome female patient with a Gerbode-type ventricular septal defect, Ebstein anomaly and Wolff-Parkinson-White Syndrome. Transthoracic echocardiography allowed to correctly diagnose the structural abnormalities; it revealed Ebstein anomaly with curtain-like appearance of the anterior tricuspid valve leaflet and dilated right atrium with atrialized right ventricle with small functional right ventricle. A peri membranous ventricular septal defect, partially covered by tricuspid tissue, with a shunt from the left ventricle (LV) to the atrialized portion of the right ventricle was found. LV showed normal diameters and good systolic function. The interatrial septum was aneurysmal with a small secundum atrial septal defect with bidirectional shunt. Electrophysiological study demonstrated an atrioventricular (AV) accessory pathway that was treated by ablation. According to the literature the patient was managed conservatively. The knowledge of this association of rare pathologies will lead the clinicians to careful look for the abnormalities reported when one of these has been diagnosed. Nevertheless, this combination was never described to the best of our knowledge in Down syndrome patients.