Associazione Nazionale Medici Cardiologi Ospedalieri



TAVI in patient suffering from Niemann – Pick disease (acid sphingomyelinase deficiency) with concomitant situs inversus and dextrocardia

De Feo Daniele Bari (Bari) – Cardiologia Universitaria Policlinico Bari / Mater Dei Hospital | D’Anzi Anna Bari (Bari) – Cardiologia Universitaria Policlinico Bari / Mater Dei Hospital | Caragnano Vito Bari (Bari) – Mater Dei Hospital | Pestrichella Vincenzo Bari (Bari) – Mater Dei Hospital | Scialpi Antonella Bari (Bari) – Mater Dei Hospital | Laronga Giuliana Bari (Bari) – Mater Dei Hospital | Lafranceschina Carlo Bari (Bari) – Mater Dei Hospital | Tiecco Fabio Bari (Bari) – Mater Dei Hospital | Scicchitano Pietro Altamura (Bari) – Ospedale F. Perinei | Ciccone Marco Matteo Bari (Bari) – Cardiologia Universitaria Policlinico Bari | Iliceto Sabino Bari (Bari) – Mater Dei Hospital/Cardiologia Universitaria Università Di Padova


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 vascular system). Literature provided few cases of moderate-to-severe valvular heart disease due to ASMD, mostly in adulthood. We reported the case of a patient with B-subtype NP disease which was diagnosed during his adulthood. NP disease was associated to situs inversus. Specifically, a severe, symptomatic aortic stenosis was also identified and the need for surgical or percutaneous intervention was deemed. The heart team chose Trans Aortic Valvular Implantation (TAVI) which was successfully performed with no further complications at follow-up.