David Coman is a Paediatrician, Metabolic Physician and a Clinical Geneticist working in clinical practise in Brisbane Australia. He has a public appointment at the RoyalrnChildren’s Hospital in Brisbane, and is the Medical Director of Paediatrics at the Wesley Private Hospital in Brisbane. He is interested in teaching and is the Academic leadrnfor Paediatrics in the Uniting Care Clinical School, Brisbane. He has a particular research interest in disorders associated with aberrant post-translational modification,rnepigenetics modification of single gene disorders, and novel disease discovery. He has active interests in rare disease advocacy, and runs philanthropic general paediatricrnclinics to the Western provinces of the Solomon Islands.
The inborn errors of metabolism (IEM) exhibit protean clinical manifestations. Cardiac disease either in isolation or as part of arnwider multisystem disease process, are frequently observed in the IEM. Cardiac presentations associated with the IEM include,rnarrhythmias, dilated cardiomyopathy, hypertrophic cardiomyopathy, non-compaction, valvular disease, endocardial fibroelastosis,rnand aortic root pathology. IEM groups commonly associated with cardiac disease include the mitochondrial respiratory chain defects,rnfatty acid oxidation defects, glycogen storage diseases, lysosomal storage diseases, defects of organic acid and amino acid metabolism,rnand defects of post-translational modification. This presentation will provide an update of the IEM disease process associated withrncardiac disease, outlining a simple clinical approach to delineating an overarching diagnosis; especially in disease processes where arnrapid diagnosis is essential, e.g., Pompe Disease.
Aarti Bavare has completed her Pediatric Residency at the Children’s Hospital Boston and Boston University combined pediatric residency program. She has receivedrnfellowship training in Pediatric Critical Care and Pediatric Cardiac Critical Care at Texas Children’s Hospital and Baylor College of Medicine. She is currently an AssistantrnProfessor of Pediatrics at Baylor College of Medicine and is the Medical Director of the house-wide Pediatric Rapid Response System at Texas Children’s Hospital. Herrnresearch interests include critical communication, resource utilization to serve critical needs of children and simulation medicine.
The Rapid Response (RR) system is a multidisciplinary modality to detect, trigger and provide response to clinical decompensationrnof patients outside the Intensive Care Unit (ICU). There is growing evidence to support that early detection of physiologicrndeterioration and prompt response can decrease adverse outcomes i.e. cardiopulmonary arrest or mortality. Pediatric cardiac patientsrnare highly vulnerable to decompensation needing emergent intervention and treatment. We sought to explore the frequency andrnpattern of utilization of RR by these patients and their outcomes. We conducted a retrospective review study at a large tertiary carernreferral pediatric heart center. We reviewed 1906 RR events that occurred in our center over a period of three years. Out of thesern152 occurred in cardiac patients. We reviewed the charts of the patients involved in these events with respect to the demographicrncharacteristics, reason for RR event, interventions needed and outcomes thereafter. The results provide useful insight into causesrnof acute clinical deterioration in pediatric cardiac patient population. The important observations made during this research willrnhopefully be a useful guide to direct initiatives to improve care and resource allocation to this high risk population.