Yasuyoshi Takei

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction

Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. This study aimed to reveal the clinical and genetic backgrounds of the unique HCM with mid-ventricular obstruction (HCM-MVO) subtype. We identified 34 patients with HCM-MVO in our cohort, and about half (47%) of these patients experienced adverse events. We analyzed 67 cardiomyopathy-associated genes in the patients. In total, 44% of patients with HCM-MVO carried the cardiomyopathy-associated genetic variant (CAGV) in 14 genes. Only 21% of patients carried HCM-associated CAGVs in major sarcomere-encoding genes, while 18% of patients carried CAGVs in dilated cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy-associated genes. CAGVs were more frequent in patients with asymmetric septal hypertrophy (ASH) than in those without ASH. These findings suggest that HCM-MVO is a high-risk group and may have different etiologies from typical HCM.

An elderly patient with severe aortic stenosis and myocardial infarction with a huge mobile thrombus as complication in the left ventricle

An 86-year-old woman was admitted for emergency treatment of increasing dyspnea. Transthoracic echocardiography revealed decreased left ventricular systolic function with dyskinesis at the apex, and severe aortic stenosis. The apex of the left ventricle showed a huge mobile thrombus. Coronary angiography revealed total occlusion at the middle portion of the left anterior descending coronary artery. Emergency operation was successful, and a partially calcified thrombus was observed at the site of the old myocardial infarction area. In this case, myocardial infarction and elevated intraventricular pressure due to aortic stenosis likely contributed to the wall motion abnormality and thrombus formation.