Getting to the Heart of the Matter: Lysosomal Storage Diseases That Manifest a Cardiac Phenotype

AbstractPurpose of ReviewThe lysosomal storage diseases (LDs) are a group of over 70 inherited metabolic conditions caused by deficiencies in one or more lysosomal enzymes affecting degradation pathways, transportation mechanisms, or other key mechanisms that hamper lysosomal functioning. LDs are individually rare but collectively common with a combined incidence of 1 in 4000 to 13,000 individuals. FDA-approved therapies exist for several of the conditions. Timely treatment of patients with LDs has been hampered by significant diagnostic delays. For many LDs, cardiac manifestations can provide a diagnostic clue to identifying affected individuals.Recent FindingsCardiac issues can be structural and/or functional and range in onset from before birth to adult onset.SummaryIn order to increase awareness of the cardiac manifestations of LDs, this review identifies key cardiac features which can assist clinicians in diagnosing LDs, reviews the importance of early diagnosis and treatment, and discusses recent articles that assist in optimizing overall outcome.

Source: Current Genetic Medicine Reports - May 3, 2018 Category: Genetics & Stem Cells Source Type: research