Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature.

Introduction Primary cardiac tumors in children are rare and the majority of them are diagnosed before the age of one year. They are mainly rhabdomyomas and have a tendency to regress. The incidence of arrhythmias is not well-defined, depending on the size and location of tumors. Case outline The authors report a female neonate with ongoing fetal supraventricular tachycardia (SVT). Delivery by urgent cesarean section was performed with neither fetal echocardiography nor fetal antiarrhythmic drug intervention. Electrocardiogram confirmed tachycardia with narrow QRS complex at a rate of 260 beats/min. converting to sinus rhythm after a third dose of intravenous bolus injection of adenosine-5'-triphosphate. But the rhythm reverted to SVT showing refractory supraventricular reentrant tachycardia. Echocardiography performed after conversion to sinus rhythm showed an echogenic, well circumscribed mass in the left atrium, fixed to the primum atrial septum without other structural defects. SVT was treated by a bolus of amiodarone followed by an intravenous infusion. Long-term management with oral amiodarone and beta blocker had a good response. During the one-year follow-up echocardiograms were performed every month showing complete regression of cardiac mass, and there has been no recurrence of tachycardia since neonatal period. Conclusion Tumor regression and a good long-term outcome in our patient suggest that it was probably a small but unfavorably positioned rhabdomyoma, associated with fetal and perinatal SVT. Prognosis and outcome of the disease depends on timely diagnosis and prompt and adequate treatment of associated life-threatening arrhythmias.

Introduction/Objective Ventricular septal defect (VSD) is the most frequently diagnosed congenital heart anomaly. The prognosis is usually good as it has spontaneous closure evolution, especially small muscular VSDs. The aim of this study was to determine the natural history of isolated muscular VSDs including the frequency of spontaneous closure in relation to location in the muscular septum and the age at the time of closure. Methods The study included 96 children (52 girls and 44 boys) with isolated muscular VSD diagnosed during the first month of life. We analyzed the tendency of spontaneous closure of these defects for the duration of childhood during a follow-up period of 16 years. Two-dimensional color Doppler echocardiography was performed to detect muscular VSD as a primary cardiac lesion. There was significant prevalence of small apical versus trabecular defects and their outcomes were evaluated. Results Our study evaluated 91 children, 49 (53.8%) girls and 42 (46.2%) boys who did not undergo surgery. Apically located VSD was diagnosed in 68 (74.7%), while trabecular defects were found in 23 (25.3%) children. Spontaneous closure occurred in 56 out of 91 cases (61.5%). The time of spontaneous closure was most commonly recorded during the first six months after birth (46.4%). The overall rate of spontaneous closure was 81.3% by the end of the first year. Apically located ventricular defects underwent spontaneous closure in the majority of patients, in comparison to trabecular ventricular defects (χ 2 = 12.581; p < 0.001). Kaplan-Meier analysis demonstrated a significant difference in the average time required for spontaneous closure between the analyzed patient groups (log-rank = 9.64, p = 0.002). Conclusion The frequency of spontaneous closure of muscular VSDs, especially apically located, is very high in the first six months, especially within the first year of life. It is advisable to detect them early on using color flow imaging and to follow up patients up to spontaneous closure.