Storage diseases with hypertrophic cardiomyopathy phenotype

Abstract

Never judge a book by its cover, nor assume hypertrophic cardiomyopathy (HCM) as sarcomeric, as appearances can deceive. HCM phenocopies account for a 5–10% of the cases, mainly represented by storage diseases, flagged by the increasing prevalence of senile cardiac amyloid in developing countries. Multisystemic and heterogeneous presentation of these entities is a challenge for clinicians, and time delay in diagnosis is a major concern. Promising drugs and gene-specific tailored therapies are under development, therefore, more than ever, appropriate understanding of these conditions is mandatory for adequate early treatment and counselling.

In this review, storage disorders will be classified as extracellular and intracellular deposit storage diseases, focusing our attention on the most prevalent conditions from the cardiologist’s perspective.