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TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia

Authors :
Daniele De Feo
Anna D’Anzi
Vincenzo Pestrichella
Pietro Scicchitano
Carlo Lafranceschina
Vito Caragnano
Fabio Tiecco
Antonella Scialpi
Giuliana Laronga
Marco Matteo Ciccone
Sabino Iliceto
Source :
Cardiology and Therapy, Vol 12, Iss 2, Pp 409-414 (2023)
Publication Year :
2023
Publisher :
Adis, Springer Healthcare, 2023.

Abstract

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), resulting in excessive storage of lipids in organs (i.e., spleen, liver, lung, bone marrow, lymph nodes, and vascular system). Only a few cases of moderate-to-severe valvular heart disease due to ASMD are described in the literature, mostly in adulthood. We report here the case of a patient with NP disease subtype B that was diagnosed during adulthood. NP disease in this patient was found to be associated with situs inversus. Specifically, a severe, symptomatic aortic stenosis was identified, and the need for surgical or percutaneous intervention was discussed. The heart team chose transcatheter aortic valvular implantation (TAVI), which was successfully performed with no complications on follow-up.

Details

Language :
English
ISSN :
21938261 and 21936544
Volume :
12
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Cardiology and Therapy
Publication Type :
Academic Journal
Accession number :
edsdoj.f4de13c51ba1428cbced4f4bd2bc5de6
Document Type :
article
Full Text :
https://doi.org/10.1007/s40119-023-00308-7