RESUMO
A 10-year-old well and asymptomatic female was referred for screening of acute right ventricular dilatation (ARVD) as she had an elder brother diagnosed with ARVD whom died of sudden cardiac death. Electrocardiography (ECG), transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) were performed. Results of these investigations were suggestive of ARVD. Despite being a rare cardiac disease and largely unrecognised in children and young adult population, ARVD is an important cause of ventricular arrhythmias in this group of patients and is one of the causes of sudden cardiac death (SCD) in this population.
RESUMO
Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.