RESUMO
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.
RESUMO
BACKGROUND: Kounis syndrome (KS) is defined as the occurrence of an acute coronary syndrome related to allergic or hypersensitivity reaction. KS is currently classified into three variants, based on coronary arteries status. This syndrome is often neglected or misdiagnosed in clinical practice. METHODS AND RESULTS: We described a type II KS case. This acute coronary syndrome (ACS) began with cardiac arrest (an uncommon clinical expression for KS) immediately after oral intake of amoxicilline. Coronary angiography revealed coronary arteries stenoses which were considered unsuitable for revascularization. Optimization of medical therapies was the goal of the management for this patient. Follow-up visits revealed normal echocardiographic findings and no malignant arrhythmias at ECG Holter monitoring. CONCLUSIONS: KS can be a rare case for ACS, sometimes occurring with sudden cardiac arrest. Physicians should pay attention to the history of the patients in order to identify the correct cause of ACSs.
