Deposition diseases cardiomyopathy: A review and pooled analysis of pathophysiology, diagnosis and clinical management

Cardiomyopathies (CM) refer to a group of myocardial diseases associated with significant morbidity and mortality despite marked improvements in medical and device therapies. Efforts to improve therapeutic efficacy and minimize mortality has seen an increase in research for aetiology-specific therapies. A rare but an important aetiology of CM is depositional diseases, which present with a wide spectrum of clinical manifestations depending on the type, location and stage of the disease. It has an unfavourable prognosis and often results into death if left untreated. In the initial stages, it is asymptomatic presenting as diastolic dysfunction and restrictive filling pattern with preserved or mildly depressed systolic function. In the later stages, the disease progresses into the dilated phenotype with bi-ventricular dysfunction. Due to its varied clinical manifestations, diagnosis is often delayed. Except for cardiac amyloidosis, the lack of data on other deposition diseases undermines a holistic understanding of their role in the pathophysiology of CM. Although early diagnosis and targeted treatment may improve patient and clinical outcomes, the lack of clinical guidelines or proven therapies undermine the effectiveness of current clinical management strategies. This literature review and metaanalysis aggregates data on CM due to depositional diseases with a particular focus on pathophysiology, clinical presentation, diagnosis and clinical management. The intention is to improve clinical outcomes and minimize mortality in patients with CM secondary to depositional diseases.