TAVI in patient suffering from Niemann – Pick disease (acid sphingomyelinase deficiency) with concomitant situs inversus and dextrocardia
Anno:
2023
Abstract Acid sphingomyelinase deficiency (ASMD) – also known as Niemann-Pick (NP) disease – is a rare, autosomal recessive disorder which is characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), thus resulting in excessive storage of lipids in organs (i.e. spleen, liver, lung, bone marrow, lymph nodes, and…