刘小希
中国医学科学院阜外医院 心外科58区
Danon disease is a rare X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2. We report a case of hypertrophic obstructive cardiomyopathy secondary to a novel mutation in the lysosome-associated membrane protein-2 gene in a 10-year-old male adolescent. We performed a modified extended Morrow procedure to minimise the risk of death and improve the patient's quality of life. The patient did not have exertional dyspnoea, and auscultation did not reveal a cardiac murmur at 1-year follow-up.
Cardiology in the young 2024
BACKGROUND:Mitral annular calcification (MAC) is a risk factor for cardiac surgery, but there is limited study on the prognosis value and the impact for valve function of MAC based on computed tomography (CT) diagnosis after myectomy for hypertrophic obstructive cardiomyopathy (OHCM).METHODS:Consecutive OHCM patients underwent septal myectomy were compared according to the existence of MAC and its severity in preoperative CT scans. The survival data were evaluated and compared by Kaplan Meier analysis and log rank test. Cox regression analysis was used to evaluate the impact of MAC on endpoint events.RESULTS:From the entire cohort of 1035 patients, 10.8% had MAC. In multivariate regression, female (OR = 2.23), age (OR = 1.07), aortic annular calcification (OR = 2.52), aortic calcification (OR = 2.56), systolic anterior motion of the mitral valve (SAM) (OR = 0.42), mitral valve thickening (OR = 2.13), and tricuspid regurgitation (OR = 3.12) were independent predictors of MAC. All-cause mortality (3.57% vs. 1.08%, p = 0.031), major adverse cardiovascular and cerebrovascular events (MACCE) (23.32% vs. 13.65%, p = 0.014), recurrent MR > 2+ (8.04% vs. 2.49%, p = 0.001) and NYHA III-IV (11.61% vs. 5.53%, p = 0.012) were more frequent in OHCM patients with MAC after myectomy. MAC was discovered to be an independent predictor of postoperative recurrent MR > 2+ after other risk factors were taken into account (HR 2.47, 95% CI 1.08-5.67, p = 0.0329). Moderate-to-severe MAC was an independent risk factor (HR 2.03, 95% CI 1.09-3.75, p = 0.0244) for long-term major adverse cardiovascular and cerebrovascular events (MACCE).CONCLUSION:MAC was detected in one-tenth of OHCM patients in preoperative CT scanning and is mainly associated with aging and atherosclerosis. OHCM patients with MAC had a worse prognosis and more recurrent mitral valve regurgitation than those without MAC after septal myectomy.
International journal of cardiology 2023
Increased levels of free fatty acid (FFA)-induced endothelial dysfunction play an important role in the initiation and development of atherosclerosis. Feprazone is a nonsteroidal anti-inflammatory compound. However, the beneficial effects of feprazone on FFA-induced endothelial dysfunction have not been reported before. In the current study, we found that treatment with feprazone ameliorated FFA-induced cell death of human aortic endothelial cells (HAECs) by restoring cell viability and reducing the release of lactate dehydrogenase (LDH). Importantly, we found that treatment with feprazone ameliorated FFA-induced oxidative stress by reducing the production of mitochondrial reactive oxygen species (ROS). In addition, feprazone prevented FFA-induced expression and secretion of proinflammatory cytokines and chemokines, such as chemokine ligand 5 (CCL5), interleukin-6 (IL-6), and interleukin-8 (IL-8). We also found that feprazone decreased the expression of matrix metalloproteinase-2 (MMP-2) and matrix metalloproteinase-9 (MMP-9). Interestingly, we found that feprazone reduced the expression of cell adhesion molecules, such as vascular cell adhesion molecule-1 (VCAM-1) and intercellular cell adhesion molecule-1 (ICAM-1). Our results also demonstrate that feprazone prevented FFA-induced activation of the toll-like receptor 4 (TLR4)/myeloid differentiation factor 88 (MyD88)/nuclear factor kappa-B (NF-κB) signaling pathway. These findings suggest that feprazone might serve as a potential agent for the treatment of atherosclerosis by improving the endothelial function.
ACS omega 2021
