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.
ABSTRACT
Mega aorta syndrome (MAS) poses a complex clinical challenge: the involvement of the ascending aorta, aortic arch, descending thoracic and abdominal aorta with extension below the origin of renal arteries requires almost total replacement of the aorta. The modality of treatment remains still controversial. Different aortic debranching techniques have been developed to re-route the origin of epiaortic and visceral vessels and achieve an optimal landing zone for implantation of subsequent endovascular grafts. We illustrate the Lupiae technique as a further evolution of the aortic debranching and hybrid repair of a mega aorta. It was developed with the purpose to exclude a very long segment of diseased aorta by implanting two or more endoprostheses between two surgically-generated landing zones. We describe a series of 27 patients treated by this hybrid three-stage mega-aorta repair; the tips and tricks discussed here facilitate a safe and effective procedure, enable treatment of frail patients and help to avoid life-threatening complications.
