ALMS1 and endocardial fibroelastosis: Having established the causal role of the novel ALMS1 variant [c.1943delA] in pEFE, we aimed to gain further insights into the mechanisms that underlie ALMS1 function in endocardial fibroelastosis process by evaluating the global impact of ALMS1 loss on transcriptome programming of proband pEFE cells that carry the mutation.