Left ventricular outflow tract obstruction with abnormal papillary muscles

AbstractA 65-year-old man with a history of hypertension was admitted to our hospital with fainting and syncope. He had experienced recurrent syncope since 20 years of age. On admission, systolic heart murmur was audible at the apex of the heart. Echocardiography revealed anteriorly displaced papillary muscles (PMs), elongation of the anterior mitral valve leaflet (AML), and systolic anterior motion (SAM) of the AML. Color Doppler imaging showed accelerated flow with a pressure gradient (PG) of 56mmHg at the left ventricular outflow tract (LVOT). Cardiac magnetic resonance imaging revealed mild asymmetric septal hypertrophy and multiple accessory PMs. Cine images clearly demonstrated SAM and LVOT obstruction due to anteriorly displaced PMs. Based on these findings, the patient was diagnosed as having hypertrophic cardiomyopathy and LVOT obstruction due to abnormal PMs. Oral administration of bisoprolol (2.5mg/day) was initiated, because the patient rejected surgical treatment. Follow-up echocardiography revealed a gradual decrease in the LVOT-PG to 24mmHg, and no episodes of fainting or syncope have recurred for 2 years after the initiation of bisoprolol.<Learning objective: Abnormal papillary muscle (PM) is an unusual cause of left ventricular outflow tract (LVOT) obstruction, and cardiac magnetic resonance (CMR) imaging has been reported to be useful for diagnosis of abnormal PM. Abnormal PMs with LVOT obstruction are usually treated by surgical correction, and therefore, reports on medical treatment are limited. We report a case of LVOT obstruction due to abnormal PMs, which was accurately diagnosed by CMR imaging and successfully treated with a beta-blocker.

Alpha-CaMKII deficiency causes immature dentate gyrus, a novel candidate endophenotype of psychiatric disorders

Elucidating the neural and genetic factors underlying psychiatric illness is hampered by current methods of clinical diagnosis. The identification and investigation of clinical endophenotypes may be one solution, but represents a considerable challenge in human subjects. Here we report that mice heterozygous for a null mutation of the alpha-isoform of calcium/calmodulin-dependent protein kinase II (alpha-CaMKII+/-) have profoundly dysregulated behaviours and impaired neuronal development in the dentate gyrus (DG). The behavioral abnormalities include a severe working memory deficit and an exaggerated infradian rhythm, which are similar to symptoms seen in schizophrenia, bipolar mood disorder and other psychiatric disorders. Transcriptome analysis of the hippocampus of these mutants revealed that the expression levels of more than 2000 genes were significantly changed. Strikingly, among the 20 most downregulated genes, 5 had highly selective expression in the DG. Whereas BrdU incorporated cells in the mutant mouse DG was increased by more than 50 percent, the number of mature neurons in the DG was dramatically decreased. Morphological and physiological features of the DG neurons in the mutants were strikingly similar to those of immature DG neurons in normal rodents. Moreover, c-Fos expression in the DG after electric footshock was almost completely and selectively abolished in the mutants. Statistical clustering of human post-mortem brains using 10 genes differentially-expressed in the mutant mice were used to classify individuals into two clusters, one of which contained 16 of 18 schizophrenic patients. Nearly half of the differentially-expressed probes in the schizophrenia-enriched cluster encoded genes that are involved in neurogenesis or in neuronal migration/maturation, including calbindin, a marker for mature DG neurons. Based on these results, we propose that an "immature DG" in adulthood might induce alterations in behavior and serve as a promising candidate endophenotype of schizophrenia and other human psychiatric disorders

Up-regulation of adiponectin expression in antigravitational soleus muscle in response to unloading followed by reloading, and functional overloading in mice

The purpose of this study was to investigate the expression level of adiponectin and its related molecules in hypertrophied and atrophied skeletal muscle in mice. The expression was also evaluated in C2C12 myoblasts and myotubes. Both mRNA and protein expression of adiponectin, mRNA expression of adiponectin receptor (AdipoR) 1 and AdipoR2, and protein expression of adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain, and leucine zipper motif 1 (APPL1) were observed in C2C12 myoblasts. The expression levels of these molecules in myotubes were higher than those in myoblasts. The expression of adiponectin-related molecules in soleus muscle was observed at mRNA (adiponectin, AdipoR1, AdipoR2) and protein (adiponectin, APPL1) levels. The protein expression levels of adiponectin and APPL1 were up-regulated by 3 weeks of functional overloading. Down-regulation of AdipoR1 mRNA, but not AdipoR2 mRNA, was observed in atrophied soleus muscle. The expression of adiponectin protein, AdipoR1 mRNA, and APPL1 protein was up-regulated during regrowth of unloading-associated atrophied soleus muscle. Mechanical loading, which could increase skeletal muscle mass, might be a useful stimulus for the up-regulations of adiponectin and its related molecules in skeletal muscle

Huge right ventricular mass lesion associated with genital malignant tumor: a case report

Abstract Background Primary heart tumors are rare, whereas metastatic heart tumors occur more frequently. Case presentation We report a case of a 75-year-old Japanese woman who had metastatic heart tumors of the right ventricle. Although she initially received antibiotic therapy following a diagnosis of pneumonia and pleuritis, her symptoms worsened, and she developed dyspnea and bilateral lower limb edema. Echocardiography showed a huge mass lesion occupying the entire right ventricle. Because the patient’s tumor markers were elevated, we used computed tomography to search for the primary lesion, which was located in the vagina or the uterus. Histology demonstrated the presence of basaloid squamous cell carcinoma in the vaginal tissue. Chemotherapy with paclitaxel and carboplatin was initiated. Conclusions These data suggest that the tumor in the right ventricle metastasized from the genital organs