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Pigmentary mosaicism of the Ito type, also known as hypomelanosis of Ito, is a neurocutaneous syndrome considered to be predominantly caused by somatic chromosomal mosaicism. However, a few monogenic causes of pigmentary mosaicism have been recently reported. Eleven unrelated individuals with pigmentary mosaicism (mostly hypopigmented skin) were recruited for this study. Skin punch biopsies of the probands and trio-based blood samples (from probands and both biological parents) were collected, and genomic DNA was extracted and analyzed by exome sequencing. In all patients, plausible monogenic causes were detected with somatic and germline variants identified in five and six patients, respectively. Among the somatic variants, four patients had MTOR variant (36%) and another had an RHOA variant. De novo germline variants in USP9X, TFE3, and KCNQ5 were detected in two, one, and one patients, respectively. A maternally inherited PHF6 variant was detected in one patient with hyperpigmented skin. Compound heterozygous GTF3C5 variants were highlighted as strong candidates in the remaining patient. Exome sequencing, using patients' blood and skin samples is highly recommended as the first choice for detecting causative genetic variants of pigmentary mosaicism.

A recent study has shown that the heterogeneity of native T1 mapping may be a new prognostic factor for patients with non-ischemic dilated cardiomyopathy (NIDCM). This study aimed to investigate the predictive value of native T1 heterogeneity of the left ventricular (LV) myocardium, as assessed by pixel-wise histogram analysis, for predicting left ventricular reverse remodeling (LVRR) by medical therapy in patients with NIDCM. A total of one hundred and thirteen NIDCM patients (mean age: 63 ± 12 years; 91 males and 22 females; mean LV ejection fraction (EF): 37 ± 10%) were retrospectively analyzed. T1 mapping images were acquired using a modified look-locker inversion recovery (MOLLI) sequence. We performed histogram analysis of native T1 mapping of LV myocardium, mean (T1-mean) and standard deviation (T1-STD) of native T1 time from each pixel were calculated. Extracellular volume fraction (ECV) was also evaluated. LVRR was defined as LVEF increased ≥ 10% points and decrease in LV end-diastolic volume ≥ 10% at 12 months from initiation of medical therapy. Cutoff value of T1-mean and T1-STD was set as median value of each parameter. Sixty (53%) NIDCM patients reached LVRR. Area under the receiver-operating characteristics curve for predicting LVRR was 0.763 (95% confidence interval (CI) 0.679-0.847) for %LGE, 0.757 (95% CI 0.663-0.850) for T1-mean, 0.724 (95% CI 0.625-0.823) for T1-STD, 0.800 (95% CI 0.717-0.882) for ECV, respectively. Proportion of LVRR was significantly lower in NIDCM patients with high T1-mean and high T1-STD (12%) compared to NIDCM with high T1-mean and low T1-STD (65%) (p 0.001). Adding T1-STD to T1-mean improved AUC from 0.757 to 0.806, comparable to AUC of ECV. Combination of T1-mean and T1-STD, a parameter of heterogeneity of native T1 of the LV myocardium, may be a useful for prediction of LVRR by medical therapy without use of gadolinium contrast for patients with NIDCM.

Background Congenital diaphragmatic hernia (CDH) is associated with high neonatal mortality. We performed this study to test the hypothesis that left ventricular (LV) and right ventricular (RV) volumes assessed by three-dimensional echocardiography may be associated with mortality in CDH. Methods This study was a single-center retrospective cohort study involving 35 infants with CDH. RV and LV end-diastolic volume (RVEDV and LVEDV, respectively) were measured by three-dimensional echocardiography and were corrected by birth body weight (BBW) on day 1. RVEDV/BBW, LVEDV/BBW, and LVEDV/RVEDV were compared between CDH survivors and non-survivors. Receiver-operating characteristic curve analysis was performed to assess the predictive ability for mortality of the echocardiographic parameters. Results Comparing CDH non-survivors (n = 6) with survivors (n = 29), respectively, RVEDV/BBW was significantly larger (2.54 ± 0.33 vs 1.86 ± 0.35 ml/kg; P P P Conclusions Three-dimensional echocardiographic volume imbalance between the RV and LV was remarkable in CDH non-survivors. The LVEDV/RVEDV ratio may be associated with mortality in CDH. Impact Mortality with congenital diaphragmatic hernia (CDH) is high, and evaluating left and right ventricular structures and functions may be helpful in assessing the prognosis. Three-dimensional (3D) echocardiography indicated that the left ventricular end-diastolic volume/right ventricular end-diastolic volume ratio within 24 h after birth was associated with mortality in CDH infants. The usefulness of this ratio should be validated in prospective multicenter studies involving larger numbers of patients.

Takotsubo cardiomyopathy, a disease that causes transient contractile abnormalities mainly in the left ventricular apex, is rarely reported in children, especially in those with single-ventricle disease. A 4-year-old boy with a single right ventricle was transferred to our hospital following a severe seizure and was diagnosed with takotsubo cardiomyopathy by echocardiography. His cardiac function improved; however, he developed hypoxic-ischemic encephalopathy.

Background: As percutaneous coronary intervention (PCI) for chronic total occlusion (CTO) gains wider acceptance as a therapeutic option for coronary artery disease, the importance of appropriate patient selection has increased. Although cardiovascular magnetic resonance imaging (MRI) allows segmental and quantitative analyses of myocardial ischemia and scar transmurality, it has limitations, including contraindications, cost, and accessibility. This study established a non-invasive method to evaluate patients undergoing CTO-PCI using two-dimensional speckle-tracking echocardiography (2D-STE). Methods: Overall, we studied 55 patients who underwent successful CTO-PCI. Cardiovascular MRI and 2D-STE were performed before and 8 ± 2 months after CTO-PCI. Segmental findings of strain parameters were compared with those obtained with late gadolinium enhancement and stress-perfusion MRI. Results: With a cutoff of −10.7, pre-procedural circumferential strain (CS) showed reasonable sensitivity (71%) and specificity (73%) for detecting segments with transmural scar. The discriminatory ability of longitudinal strain (LS) for segments with transmural scar significantly improved during follow-up after successful CTO-PCI in the territory of the recanalized artery (area under the curve (AUC) 0.70 vs. 0.80, p &lt, 0.001). LS accuracy was lower than that of CS at baseline (AUC 0.70 vs. 0.79, p = 0.048), and was increased at follow-up (AUC 0.80 vs. 0.82, p = 0.81). Changes in myocardial perfusion reserve from baseline to follow-up were significantly associated with those in LS but not in CS. Conclusions: Use of 2D-STE may allow the non-invasive evaluation of patients undergoing CTO-PCI to assess the indication before the procedure and treatment effects at follow-up.

Objectives The differential diagnosis between precapillary and postcapillary pulmonary hypertension (PH) is important for deciding on the appropriate therapeutic strategy. The aim of this study was to assess whether the atrial volume ratio can differentiate precapillary and post-capillary PH. Methods Seventy-seven patients with PH who underwent transthoracic echocardiography (TTE) and right heart catheterization were retrospectively studied. Pulmonary hypertension was defined as a mean pulmonary arterial pressure of 25 mm Hg or higher by right heart catheterization. Patients with a pulmonary capillary wedge pressure higher than 15 mm Hg were classified as having postcapillary PH, and patients with a pulmonary capillary wedge pressure of 15 mm Hg or lower were classified as having precapillary PH. The atrial volume ratio derived from TTE was defined as right atrial volume divided by left atrial volume. Results Forty-four (57%) of 77 patients had precapillary PH by the right heart catheterization classification. The atrial volume ratio was significantly higher in precapillary PH than in postcapillary PH (1.03 ± 0.69 versus 0.50 ± 0.19; P

Background Phase-contrast (PC) cine magnetic resonance imaging (MRI) of the coronary sinus is a noninvasive method to quantify coronary flow reserve (CFR). Objectives This study sought to compare the prognostic value of CFR by cardiac magnetic resonance (CMR) and stress perfusion CMR to predict major adverse cardiac events (MACE). Methods Participants included 276 patients with known coronary artery disease (CAD) and 400 with suspected CAD. CFR was calculated as myocardial blood flow during adenosine triphosphate infusion divided by myocardial blood flow at rest using PC cine MRI of the coronary sinus. Results During a median follow-up of 2.3 years, 47 patients (7%) experienced MACE. Impaired CFR ( 10% ischemia on stress perfusion CMR were significantly associated with MACE in patients with known CAD (hazard ratio [HR]: 5.17 and HR: 5.10, respectively) and suspected CAD (HR: 14.16 and HR: 6.50, respectively). The area under the curve for predicting MACE was 0.773 for CFR and 0.731 for stress perfusion CMR (p = 0.58) for patients with known CAD, and 0.885 for CFR and 0.776 for stress perfusion CMR (p = 0.059) in the group with suspected CAD. In patients with known CAD, sensitivity, specificity, and positive and negative predictive values to predict MACE were 64%, 91%, 38%, and 97%, respectively, for CFR, and 82%, 59%, 15%, and 97%, respectively, for stress perfusion CMR. In the suspected CAD group, these values were 65%, 99%, 80%, and 97%, respectively, for CFR, and 72%, 83%, 22%, and 98%, respectively, for stress perfusion CMR. Conclusions The predictive values of CFR and stress perfusion CMR for MACE were comparable in patients with known CAD. In patients with suspected CAD, CFR showed higher HRs and areas under the curve than stress perfusion CMR, suggesting that CFR assessment by PC cine MRI might provide better risk stratification for patients with suspected CAD.

Limited data are available regarding the prediction for functional recovery using late gadolinium enhanced magnetic resonance imaging (LGE MRI) after coronary revascularization for chronic total occlusion (CTO PCI).We studied 59 patients (mean age, 66±11 years) who underwent successful CTO PCI. Two-dimensional echocardiography and strain measurements were performed before and 8±2 months after CTO PCI. The findings of segmental assessment were compared with the extent of LGE MRI using a 16-segment model.From baseline to follow-up, ejection fraction (54.2±12.1% to 56.1±10.6%, p=0.010), global longitudinal strain (LS) (-15.1±5.1 to -16.7±5.1, p0.001), global circumferential strain (CS) (-14.0±4.9 to -15.9±4.9, p0.001), and wall motion score (WMS) index (1.45±0.53 to 1.33±0.39, p=0.014) significantly improved. In the territory of the CTO vessel, LS and CS significantly improved in segments of LGE ≤50%, but not in segments of LGE50%. However, WMS improved only in segments of LGE 1-25%. At baseline and at follow-up, CS allowed better discrimination of segments of LGE50% than WMS [at baseline; area under the curve (AUC) 0.79 vs. 0.68, respectively, p=0.001: at follow-up; AUC 0.84 vs. 0.69, respectively, p0.001). Discriminatory ability of LS for segments of LGE50% significantly improved from baseline to follow-up (AUC 0.73 vs. 0.83, p0.001).The cut-off value of the extent of LGE MRI is 50% to detect segments that will functionally recover after CTO PCI. Change in LS was more sensitive for removal of ischemia by CTO PCI, indicating the utility of LS to monitor the therapeutic effects of CTO recanalization.

A three-dimensional visualization system was developed to investigate the dynamic state of bridge components using portable sensors located at multiple points. The system utilizes wireless data transfer and real-time signal processing for on-site output of the dynamic oscillation of bridge components. Vibrational modes (bending, twisting, and translation) are determined upon excitation by an external load. In this study, a sensor fusion technique was introduced to enhance the accuracy of motion visualization. An angular velocity sensor and an accelerometer were mounted within each sensor box. The same sensor boxes were prepared, and boxes were placed at 12 positions in all. The performance of the system was checked using a mock-up reinforced concrete beam. In cyclic loading tests of the mock-up, variations in the natural vibration frequency and its mode shape were observed. It was shown that disturbance of the initial motion may be used to detect crack initiation, and that changes in the mode shape may be used to detect the location of the damaged area.

A case of double aortic arch that was well visualized using transthoracic echocardiography is reported. A 38-year-old man underwent transthoracic echocardiography for the evaluation of dyspnea. A suprasternal view of transthoracic echocardiography showed the ascending aorta bifurcate to left and right aortic arches, with blood flow from the ascending aorta to bilateral aortic arches. The diagnosis of right side-dominant double aortic arch was made, and the patient's symptom was conceivably related to compression of the trachea due to a vascular ring. This report indicates the potential usefulness of transthoracic echocardiography for noninvasive detection of double aortic arch in adults.

Background The aim of this study was to investigate the prognostic value of myocardial focal fibrosis quantified by late gadolinium enhanced (LGE) magnetic resonance imaging (MRI) in patients with heart failure with preserved ejection fraction (HFpEF). Methods One-hundred eleven HFpEF patients (mean age: 70±14years, 55 (50%) female) were enrolled. We excluded patients with previous history of coronary artery disease and/or ischemic pattern of hyper enhancement on LGE MRI. Myocardial enhancement was defined using signal intensity >2SD above the mean signal intensity of a remote myocardium. Major adverse cardiovascular events were defined as cardiovascular death and heart failure requiring hospitalization. Results During a mean follow up period of 851±609days, 10 events (2 cardiovascular death, 8 hospitalization for heart failure decompensation) were observed. Area under the receiver operating characteristics curve of LGE% for the detection of future events was 0.721 (95% CI: 0.628–0.802). Multivariate Cox proportional hazard analysis showed that LGE% is an independent predictor of future events after the adjustment with prognostic 5 factors – age, diabetes mellitus, New York Heart Association classification, history of heart failure hospitalization and left ventricular ejection fraction – which were identified in the I-PRESERVE study (Irbesartan in Heart Failure with Preserved Ejection Fraction Study) (hazard ratio=7.913, 95% CI: 1.603–39.05, P=0.012). Conclusions Larger size of LGE was significantly associated with high rate of future cardiovascular death and heart failure hospitalization, suggesting that the quantification of myocardial focal fibrosis by LGE MRI could be useful for the risk stratification in HFpEF patients.

The differential diagnosis between precapillary and postcapillary pulmonary hypertension (PH) is important for deciding on the appropriate therapeutic strategy. The aim of this study was to assess whether the atrial volume ratio can differentiate precapillary and post-capillary PH.Seventy-seven patients with PH who underwent transthoracic echocardiography (TTE) and right heart catheterization were retrospectively studied. Pulmonary hypertension was defined as a mean pulmonary arterial pressure of 25 mm Hg or higher by right heart catheterization. Patients with a pulmonary capillary wedge pressure higher than 15 mm Hg were classified as having postcapillary PH, and patients with a pulmonary capillary wedge pressure of 15 mm Hg or lower were classified as having precapillary PH. The atrial volume ratio derived from TTE was defined as right atrial volume divided by left atrial volume.Forty-four (57%) of 77 patients had precapillary PH by the right heart catheterization classification. The atrial volume ratio was significantly higher in precapillary PH than in postcapillary PH (1.03 ± 0.69 versus 0.50 ± 0.19; P .001). The area under the receiver operating characteristic curve of the atrial volume ratio for detecting postcapillary PH was 0.84 (95% confidence interval: 0.75-0.93). Adding the atrial volume ratio to the left ventricular ejection fraction yielded a high area under the curve of 0.90 (95% confidence interval, 0.83-0.96) for distinguishing precapillary and postcapillary PH.The atrial volume ratio assessed by TTE might be useful for differential diagnosis between precapillary and postcapillary PH.

We thank Dr. Lichtenberg for his interest and insightful comments regarding our study of the prognostic value of coronary flow reserve (CFR) evaluated by phase-contrast cine cardiac magnetic resonance imaging (MRI) of the coronary sinus to patients with known or suspected coronary artery disease (

Background Phase contrast ( PC ) cine‐magnetic resonance imaging ( MRI ) of the coronary sinus allows for noninvasive evaluation of coronary flow reserve ( CFR ), which is an index of left ventricular microvascular function. The objective of this study was to investigate coronary flow reserve in patients with heart failure with preserved ejection fraction ( HF p EF ). Methods and Results We studied 25 patients with HF p EF (mean and SD of age: 73±7 years), 13 with hypertensive left ventricular hypertrophy ( LVH ) (67±10 years), and 18 controls (65±15 years). Breath‐hold PC cine‐ MRI images of the coronary sinus were obtained to assess blood flow at rest and during ATP infusion. CFR was calculated as coronary sinus blood flow during ATP infusion divided by coronary sinus blood flow at rest. Impairment of CFR was defined as CFR HF p EF patients had decreased CFR . CFR was significantly decreased in HF p EF patients in comparison to hypertensive LVH patients and control subjects ( CFR : 2.21±0.55 in HF p EF vs 3.05±0.74 in hypertensive LVH , 3.83±0.73 in controls; P ANOVA ). According to multivariable linear regression analysis, CFR independently and significantly correlated with serum brain natriuretic peptide level (β=−68.0; 95% CI, −116.2 to −19.7; P =0.007). Conclusions CFR was significantly lower in patients with HF p EF than in hypertensive LVH patients and controls. These results indicated that impairment of CFR might be a pathophysiological factor for HF p EF and might be related to HF p EF disease severity.

Extracellular volume (ECV) derived cardiac magnetic resonance (CMR) T1-mapping has emerged as a non-invasive method to quantify extracellular matrix of human heart. The aim of this study was to assess the impact of ECV assessed by CMR T1 mapping on systolic and diastolic function of the heart

Numerous numbers of pre-, peri- and postnatal damages cause West syndrome in early infancy, however, etiology in many cases are not still elucidated despite intensive biochemical and neuroradiologic investigations. We described four patients having early onset epileptic encephalopathy with severe hypomyelination and reduction in cerebral white matter. The clinical symptoms of these patients are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early infancy. All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI. Serial MRI investigations in three patients showed absence of myelination of the white matter. On EEG, one patient revealed suppression-burst and other three had hypsarrhythmia. Despite having intractable seizures, no patient showed deterioration of neurological development. The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) like syndrome, however it is not compatible with these two conditions. The findings observed in our patients can be regarded as a new clinical condition associated with early onset West syndrome.

Focal spike activities in Panayiotopoulos syndrome involve all brain regions in electroencephalography, and commonly reveal multiple foci, often through occipital predominance. To investigate correlations between developmental brain maturation and spike origin in Panayiotopoulos syndrome, we evaluated age-related or duration-related magnetoencephalographic spike localization in 25 patients with Panayiotopoulos syndrome. Regarding age at examination, patients with frontal spikes were significantly older than patients with spikes on rolandic, parieto-occipital, or calcarine sulci. Occipital spikes were classified into two subgroups, located at the calcarine sulcus and parieto-occipital sulcus. Both calcarine and parieto-occipital localizations were seen in patients around the same age. Follow-up magnetoencephalography was performed on three patients, and demonstrated shifting localization or disappearance of magnetoencephalographic spikes. These results suggest that the location of spike discharges is not directly related to seizure symptoms, but instead indicates maturation-related cortical hyperexcitability in patients with Panayiotopoulos syndrome.

The prognostic significance of the SYNTAX (Synergy between PCI with Taxus and cardiac surgery) score has recently been demonstrated in patients with stable multivessel or left main coronary artery disease (CAD). The present study determines whether adding the SYNTAX score to Framingham risk score (FRS), left ventricular ejection fraction (LVEF) and presence of myocardial infarction (MI) by late gadolinium enhancement (LGE) magnetic resonance imaging can improve the risk stratification in patients with stable CAD. We calculated the SYNTAX score in 161 patients with stable CAD (mean age: 66 ± 10 years old). During a mean follow-up of 2.3 years, 56 (35 %) of 161 patients developed cardiovascular events defined as cardiovascular death, non-fatal MI, cerebral infarction, unstable angina pectoris, hospitalization due to heart failure and revascularization. Multivariate Cox regression analysis selected triglycerides [hazard ratio (HR): 1.005 (95 % confidence interval (CI): 1.001–1.008), p

We report on a six-year-old girl with frequent partial seizures secondary to multiple cavernous angiomas (CAs) since the age of 17 months. MRI showed two CAs in the left parietal and right frontal lobes. Ictal scalp video EEG demonstrated complex partial seizures of left hemispheric origin, indicating that the left parietal CA was the epileptogenic lesion. Ictal SPECT showed extensive hyper-perfusion in the left frontal and parietal lobes, indicating the left hemispheric focus. Magnetoencephalography (MEG) showed clustered equivalent current dipoles of interictal spikes in the left parietal cortex adjacent to the left parietal CA. We performed lesionectomy of the left parietal CA at 19 months old. The patient became seizure-free for four years. Postoperative MEG yielded no residual interictal spikes. Our study suggests that early surgical intervention of CA may prevent from further development of epileptic seizures. MEG can identify both the epileptogenic zone and lesion underlying the multiple CAs in the infants with catastrophic partial seizures.