David Coman
The Royal Children’s Hospital, Australia
Title: The cardiac manifestations of the inborn errors of metabolism
Biography
Biography: David Coman
Abstract
The inborn errors of metabolism (IEM) exhibit protean clinical manifestations. Cardiac disease either in isolation or as part of a wider multisystem disease process, are frequently observed in the IEM. Cardiac presentations associated with the IEM include, arrhythmias, dilated cardiomyopathy, hypertrophic cardiomyopathy, non-compaction, Valvular disease, endocardial fibroelastosis, and aortic root pathology. IEM groups commonly associated with cardiac disease include the mitochondrial respiratory chain defects, fatty acid oxidation defects, glycogen storage diseases, lysosomal storage diseases, defects of organic acid and amino acid metabolism, and defects of post-translational modification.
This presentation will provide an update of the IEM disease process associated with cardiac disease, outlining a simple clinical approach to delineating an overarching diagnosis; especially in disease processes where a rapid diagnosis is essential, e.g., Pompe Disease.