Dilated cardiomyopathy: room for (cautious) optimism?

Dilated cardiomyopathy is an uncommon but serious form of heart muscle disease affecting children and young people. The aetiology and clinical presentation are heterogenous, and a structured approach to identification, classification and management is warranted. Comprehensive initial workup is aimed at identifying potentially reversible causes, as well as identifying children where cardiomyopathy is the initial presenting feature of a multi-systemic condition. Commoner causes of primary myocarditis include infection, and heritable, familial conditions including mitochondrial disease and muscular dystrophies. It may also be secondary to arrhythmias, ischaemia, toxins, nutritional deficiencies or metabolic disturbance. Genetic testing has not yet yielded as illuminating results as in adults, or in children with hypertrophic cardiomyopathy; however, progress in this field is likely to be rapid. Understanding the key underlying pathophysiologic mechanisms, along with extrapolation from adult literature, directs pharmacologic management, which has remained largely unchanged over the past few decades. Novel pharmacologic agents, improvements in mechanical support and innovative surgical techniques, permit cautious optimism for improvement in morbidity, mortality and quality of life. Transplantation remains the gold standard for end-stage disease, with slow but continued prolongation of median survival. Although the overall prognosis remains guarded, the above advances in combination with multi-disciplinary collaboration, are gradually turning the tide in the management of children with this complex condition. In this short review we present a rational approach to diagnosis and management of this complex and challenging illness, and describe recent progress, as well as some cause for optimism.