Introduction: Kabuki syndrome (KS) is a genetic disorder with characteristic facial dysmorphisms, short stature, hypertension, and obesity later in life. The aim of this study was to evaluate catch-up growth and cardiovascular markers before and during growth hormone (rhGH) treatment in KS children.
Methods: This prospective study included 18 children whose KS was genetically established.
A boy withthoracicpain A 15-year-old Iraqi boy who had been living in the Netherlands for 4 years was referred to a paediatric clinic due to malaise, thoracic pain and weight loss since 3 months. Imaging revealed multiple large cystic lesions in the right lung and liver, highly suggestive of echinococcosis, which was serologically confirmed. He was treated with albendazole and underwent lung surgery successfully.
View Article and Find Full Text PDFBackground: Genetic evaluation is recommended in patients with unexplained dilated cardiomyopathy (DCM), but its diagnostic yield and prognostic relevance in unexplained isolated left ventricular dysfunction (LVdys) is unknown.
Methods And Results: A total of 127 LVdys and 262 DCM patients underwent genetic screening. Long-term outcome consisted of a combined end point of life-threatening arrhythmia, heart transplantation, and death.