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