Non-ischemic rupture of the posteromedial papillary muscle due to Streptococcus agalactiae endocarditis.

Papillary muscle rupture is usually caused by myocardial infarction although rare cases of non-ischemic etiology have also been described. Among these, infective endocarditis represents an important cause. Herein, we report a case due to Streptococcus agalactiae involving the posteromedial papillary muscle. Learning objective: Non-ischemic papillary muscle rupture should be suspected when there is no evidence of atherosclerotic coronary artery disease. In the febrile patient, infective endocarditis should be considered in the differential diagnosis.

Do False Tendons Prevent Adverse Left Ventricular Remodeling After Anterior Wall Myocardial Infarction? An Echocardiographic Strain Imaging Study.

The role of muscular left ventricular (LV) false tendons (FTs) is poorly understood. To gain insight into their pathophysiologic significance, we adapted echocardiographic LV strain imaging software to measure LVFT longitudinal strain in subjects with normal left ventricles and in patients who sustained previous anterior wall myocardial infarction (AWMI). GE EchoPAC software was used to measure longitudinal strain in LVFTs ≥0.3 cm in diameter. Tendinous strain was measured in 11 patients with LVFTs confined to the left anterior descending artery territory (connecting the anteroseptum or anterior wall to the apex) ≥6 months after AWMI (myocardial infarction [MI]+FT+ group) and in 25 patients with normal hearts containing LVFTs (MI-FT+ group). We also compared the indexed LV end-diastolic volumes in the MI+FT+ group to that of 25 patients with previous AWMI without LVFTs (MI+FT- group). The mean LVFT strain in MI+FT+ group was 5.5 ± 6.2% and -28.9 ± 4.7% in the MI-FT+ group (p <0.0001). The indexed LV end-diastolic volume in the MI+FT+ group did not differ from the MI+FT- group (88.4 ± 17.8 vs 87.9 ± 17 ml/m2, p = 0.90). In conclusion, the negative strain (contraction) developed by LVFTs in the MI-FT+ group may help maintain normal LV size and shape by generating inward restraining forces. The development of positive strain (stretch) in LVFTs in patients in the MI+FT+ group suggests they become infarcted after AWMI. This implies that they are incapable of generating inward restraining forces that might otherwise mitigate adverse remodeling. Of note, LV volumes after AWMI do not differ whether or not LVFTs are present.

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

We present two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene. A seven year old female with severe developmental delays, failure to thrive and growth retardation, infantile spasms, a cardiac vascular ring and right-sided aortic arch, imperforate anus, hydronephrosis with a right renal cyst, syndactyly and abnormal white matter was a compound heterozygote for c.3365C > G, predicting p.(Ser1122Trp) that was maternally inherited and c.2482G > A, predicting p.(Val828Met) that was paternally inherited. An eight year old female with severe developmental delays, epilepsy, left postaxial polydactyly of the hand and abnormalities of brain development including hydrocephalus, pachygyria and absence of the body and splenium of the corpus callous was a compound heterozygote for c.461G > A, predicting p.(Arg154Gln) and c.2959 G > A, predicting p.(Glu987Lys) that was maternally inherited and her father was unavailable for testing. The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation. We conclude that these phenotypes may result from the KIF7 sequence variants and abnormal hedgehog signaling, but that the full spectrum of KIF7-associated features remains to be determined.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

KBG syndrome is a rare, autosomal dominant disorder caused by mutations or deletions leading to haploinsufficiency for the Ankrin Repeating Domain-Containing protein 11 (ANKRD11) at chromosome 16q24.3. Kabuki syndrome is caused by mutations or deletions of lysine (K)-specific methyltransferase 2D (KMT2D) and lysine-specific methylase 6A (KDM6A). We report on a male with developmental delays, cleft palate, craniofacial dysmorphism, hypotonia, and central nervous system anomalies including diminished white matter with thinning of the corpus callosum. Exome sequencing revealed a de novo mutation in ANKRD11, c.2606_2608delAGA, predicting p.Lys869del and an additional, de novo mutation, c.2353T>C, predicting p.Tyr785His in KDM1A, a gene not previously associated with a human phenotype. We describe this child as the first report of a deleterious sequence variant in KDM1A and hypothesize that his phenotype resulted from the combined effect of both mutations.

A physiological signal that prevents motor skill improvements during consolidation.

Different memories follow different processing pathways. For example, some motor skill memories are enhanced over wakefulness, whereas others are instead enhanced over sleep. The processing pathway that a motor skill memory follows may be determined by functional changes within motor circuits. We tested this idea using transcranial magnetic stimulation to measure corticospinal excitability at 6, 21, 36, 96, and 126 min after participants learnt tasks that either were or were not enhanced over wakefulness. There was no change in corticospinal excitability after learning a motor skill that was subsequently enhanced; whereas, there was a substantial transient decrease in corticospinal excitability after learning a motor skill that was not enhanced. In subsequent experiments, we abolished the decrease in corticospinal excitability by applying theta burst stimulation to either the dorsolateral prefrontal or primary motor cortex, and induced motor skill improvements during consolidation. The motor skill improvements in each experiment were correlated with the corticospinal excitability after learning. Together, these experiments suggest that corticospinal excitability changes act as a physiological signal, which prevents improvements from developing over wakefulness, and so when this signal is abolished improvements are induced. Our observations show that the human brain can actively prevent the processing of memories, and provides insights into the mechanisms that control the fate of memories.