Ventricular Asymmetry Research Articles

Ventricular volume asymmetry as a novel imaging biomarker for disease discrimination and outcome prediction.

Disruption of the predictable symmetry of the healthy heart may be an indicator of cardiovascular risk. This study defines the population distribution of ventricular asymmetry and its relationships across a range of prevalent and incident cardiorespiratory diseases. The analysis includes 44 796 UK Biobank participants (average age 64.1 ± 7.7 years; 51.9% women). Cardiovascular magnetic resonance (CMR) metrics were derived using previously validated automated pipelines. Ventricular asymmetry was expressed as the ratio of left and right ventricular (LV and RV) end-diastolic volumes. Clinical outcomes were defined through linked health records. Incident events were those occurring for the first time after imaging, longitudinally tracked over an average follow-up time of 4.75 ± 1.52 years. The normal range for ventricular symmetry was defined in a healthy subset. Participants with values outside the 5th-95th percentiles of the healthy distribution were classed as either LV dominant (LV/RV > 112%) or RV dominant (LV/RV < 80%) asymmetry. Associations of LV and RV dominant asymmetry with vascular risk factors, CMR features, and prevalent and incident cardiovascular diseases (CVDs) were examined using regression models, adjusting for vascular risk factors, prevalent diseases, and conventional CMR measures. Left ventricular dominance was linked to an array of pre-existing vascular risk factors and CVDs, and a two-fold increased risk of incident heart failure, non-ischaemic cardiomyopathies, and left-sided valvular disorders. Right ventricular dominance was associated with an elevated risk of all-cause mortality. Ventricular asymmetry has clinical utility for cardiovascular risk assessment, providing information that is incremental to traditional risk factors and conventional CMR metrics.

Clinical and computed tomography findings in cats with nasopharyngeal stenosis.

Concurrent anomalies are often found in nasopharyngeal stenosis and choanal atresia; some seem to be of primary nature, whereas others may be coincidental. This study aimed to report the computed tomography features and related comorbidities of these diseases. A cross-sectional retrospective study was performed using case and control groups defined according to the presence of signs of upper airway disease and the presence/absence of nasopharyngeal stenosis, respectively. The inclusion criteria were full-head tomography scans and access to clinical records. The exclusion criteria were brachycephalic breed, head trauma and neoplasm. Clinical and computed tomographic findings and relevant comorbidities were recorded. Forty-three cats were included, 23 cases and 20 controls. The case group was significantly younger, had more paranasal sinus anomalies and never had turbinate lysis, also, had significantly more soft palate anomalies, which was significantly shorter. Nasopharyngeal stenosis varied from membrane appearance to partial or complete adhesion of the soft palate to the nasopharynx, was mainly located in the caudal region of the nasopharynx and was imperforated in approximately half of the cases. Imperforated membranes were significantly thicker in the sagittal plane and were significantly associated with nasal obstruction and soft tissue attenuation of the tympanic bulla. Hiatal hernia and ventricular asymmetry were only encountered in three and two cases, respectively, with nasopharyngeal stenosis. Computed tomography in cats with nasopharyngeal stenosis can identify concurrent anomalies, can help to differentiate a possible choanal atresia and evaluate the magnitude of its significance.

Ventricular volume ratio as a novel imaging biomarker for disease prediction in 26,516 UK Biobank participants

Abstract Background/Introduction Right and left ventricular volumes are established imaging biomarkers for disease discrimination and outcome prediction. Limited research in select disease cohorts suggests additional clinical value from consideration of disproportionate (or imbalanced) dilatation of one ventricle over the other. The prognostic utility of this "ventricular volume ratio" (VVR) has not been tested in large, unselected cohorts. Purpose To examine associations of right-to-left and left-to-right VVR with cardiovascular phenotypes, prevalent disease, and incident cardiac outcomes in the UK Biobank. Methods The analysis includes 26,516 participants with cardiac magnetic resonance (CMR) available. We calculated right-to-left ventricular volume ratio (RV/LV), and the reciprocal left-to-right ventricular ratio (LV/RV), and identified participants with asymmetry above the 95th percentile of healthy cases. Multivariable linear and logistic regression models were used to calculate associations between ventricular volume asymmetry and sample characteristics, other cardiac imaging features, existing disease and incident disease. Incident disease associations were measured using Cox proportional hazards models adjusted by age, sex, systolic blood pressure, body mass index, smoking, Townsend deprivation score, hypertension, diabetes, hyperlipidaemia and other key imaging metrics (LV mass indexed to body surface area, LV ejection fraction and RV ejection fraction). The average follow-up time was 4.6 years (SD 1.3 years). Results Ventricular volume asymmetry in either direction was associated with increased age, lower RVEF, poorer LV global function index, poorer global longitudinal strain and greater maximum wall thickness. While RV-dominant volume asymmetry was associated with increased risk of all-cause mortality (HR= 1.56, 95% CI= [1.08, 2.26], p=0.019), LV-dominant volume asymmetry was found to associate with a much wider array of factors in the UK Biobank population. LV dominance was significantly associated with smoking, hypertension, diabetes, hyperlipidaemia, existing respiratory disease and existing heart disease. In fully-adjusted models, LV dominance was associated with increased risk for ischaemic heart disease (1.46 [1.12, 1.91], p=0.005), non-ischaemic cardiomyopathies (3.62, [1.93, 6.79], p &amp;lt; 0.001) and a two-fold increased risk for heart failure (2.30, [1.63, 3.26], p &amp;lt; 0.001). Conclusion(s) LV/RV is easily calculated from existing imaging metrics, and could potentially have important added value as a biomarker in predicting heart disease, incremental to well-established risk factors and imaging metrics.

Identification of abnormal ventricular asymmetry in 2nd trimester fetal ultrasound using artificial intelligence

Abstract Introduction Prenatal ultrasound screening for congenital heart disease (CHD) suffers from poor detection yield (10%-56%)[1, 2], with a strong impact on neonatal morbidity and mortality. The need for expertise in fetal cardiology and the high volume of screening cases limit the current detection rates. Computer-assisted prenatal screening could support clinicians in improving diagnostic yield, including for abnormal ventricular asymmetry, which is often hard to discriminate from physiological asymmetry. Here we aim at evaluating a deep neural network (DNN) for detection of abnormal ventricular asymmetry, which can be linked to multiple types of CHD, including coarctation of the aorta, pulmonary or aortic valve stenosis, ventricular hypoplasia or univentricular heart. Purpose To determine if a novel DNN can identify cases of abnormal ventricular asymmetry in 2nd trimester fetal ultrasound videos. Methods We used as an endpoint the presence of any abnormality causing a significantly abnormal asymmetry of the ventricles as seen in the fetal ultrasound. Consecutive patients who had an echocardiography performed at one center were included retrospectively starting from 2022, January 1st. Inclusion criteria were single pregnancy between 18 and 25 weeks of gestation. To have a high number of positive patients, patients were included separately if they were expected to be positive (n=35) or negative (n=75) to the endpoint, based on their medical record. Each case was reviewed by one of two physicians expert in fetal echocardiography interpretation to confirm the presence or absence of the endpoint. For each patient, a single video showing an interpretable four chamber view was selected. Patients with no such video were excluded. The DNN takes as input fetal ultrasound videos, and predicts the absence or presence of the endpoint for each video. If its confidence is low, the DNN predicts an "inconclusive" output instead. The DNN has a ResNet-50 architecture[3] adapted to videos and was trained on data from patients not included in the evaluation. The detection performance of the DNN and the proportion of conclusive outputs were assessed. Results Overall, 37 positive and 66 negative ultrasound videos were included. The DNN achieved an AUC of 75.5%, a sensitivity of 71.4% (54.9-83.7, 95%CI) and a specificity of 64.4% (51.7-75.4, 95%CI) in identifying cases of abnormal ventricular asymmetry, after excluding inconclusive diagnosis. The DNN predicted a conclusive diagnosis in 91.3% of cases. Conclusion A DNN could accurately identify cases of abnormal ventricular asymmetry in fetal heart ultrasound videos. Importantly, this evaluation was performed in a population of patients who had an echocardiogram, and which therefore contains more abnormal cases compared to patients undergoing standard screening. This work lays the ground for diagnostic support to enable a more efficient, accurate, and scalable analysis of fetal heart ultrasounds.

Retracted: Lateral Ventricular Volume Asymmetry and Optic Nerve Sheath Diameter Predict Intracranial Pressure in Traumatic Brain Injury Patients.

[This retracts the article DOI: 10.1155/2022/9808334.].

Abdominal and cranial ultrasound screenings in our Neonatal Intensive Care Unit

Previously, all admitted neonates to our tertiary Neonatal Unit, University of Szeged, had a cranial and abdominal ultrasound performed as part of their care. To analyze the findings and to evaluate the effectiveness of the universal ultrasound screening. Results of cranial and abdominal ultrasound imaging performed in our Unit between 1st January 2014 and 31st December 2015 were analyzed retrospectively. Abnormalities found during the screening scans were studied further and assessed until discharge and during the first 2 years. All imagings were performed by a radiologist. During the examined 2 years, 579 neonates were admitted (gestational age mean 34.2 weeks [23-41, SD ± 4.04]), abdominal ultrasound was performed in 562 (97%) and cranial ultrasound in 560 (97%) babies, on the 3.6th day of life at an average (0-18, SD ± 2.24). Of all abdominal ultrasound scans, 87% (n = 488) was carried out as screening, and the found abnormalities in 140 (29%) of the cases: renal pelvic dilatation (n = 67 [47.9%]), free abdominal fluid (n = 17 [12.1%]), echogenic kidneys (n = 13 [9.3%]), congenital abnormalities of the kidney and urinary tract (n = 9 [6.4%]), abnormalities of the liver, bile system, adrenal gland [n = 14 [10%]). The screening identified 4 (0.8%) neonates with renal abnormilaties requiring surgical correction. In regards of renal abnormalities, we observed male (p = 0.18) and left sided (p = 0.54) predominance. Screening cranial ultrasound was performed in 65% (n = 362) of all neonates, discovering 51 (14%) anomalies: plexus chorioideus cyst (n = 21 [41%]), plexus chorioideus hemorrhage (n = 9 [17.6%]), mild ventricular asymmetry (n = 8 [15.7%]), subependymal hemorrhage (n = 5 [9.8%]), abnormalities of the periventricular area (n = 4 [7.8%]), colpocephaly, hydrocephalus externus, echogenic meninx and thalamic nodule [n = 1-1 (1.9-1.9%)]. Abdominal ultrasound screening discovered renal abnormalities and umbilical line complications as clinically relevant findings. However, a small number of renal abnormalities identified by screening required surgical intervention. Further studies are needed to identify possible risk groups to develop more efficient screening strategy to decrease the number of screened babies for 1 relevant finding (number to screen). Cranial ultrasound screening did not identify any abnormalities that needed intervention. We can not recommend universal cranial ultrasound screening based on our results. Orv Hetil. 2023; 164(31): 1222-1230.

Assessment of the Central Nervous System in Children with Fetal Alcohol Spectrum Disorder (FASD) Using Magnetic Resonance (MR) Techniques

The study aimed to assess central nervous systems in children diagnosed with Fetal Alcohol Spectrum Disorder (FASD), using the techniques of magnetic resonance (MRI). The analyses considered 200 children, both female and male, aged 6–17 years, diagnosed with FASD, as well as 32 healthy children of both sexes, aged 6–16 years. Brain anomalies as well as linear and surface area measurements of the brain and corpus callosum were assessed. 1H MRS and DWI signals were evaluated in the frontal lobes, basal ganglia, hippocampi, and cerebellum. Several brain anomalies were found in children with FASD. Qualitative assessment showed the thinning of the corpus callosum in 40% of the cases and cerebral ventricular asymmetry in 32% of the children. The mean thickness of the corpus callosum isthmus and the mean length of the corpus callosum were statistically lower in children with FASD. Higher Lip/Cr concentration and DWI values as well as lower NAA/Cr, Cho/Cr, and mI/Cr concentrations were found in multiple studied brain regions. The analysis of the present findings in the study group showed that brain MRI examinations of children with FASD more often identified a decreased corpus callosum and 1H MRS and DWI abnormalities, particularly in the region of basal ganglia.

Cerebral Lateral Ventricular Asymmetry: Normal Variant or an Indicator of Underlying Pathology

Introduction: Isolated lateral ventricular asymmetry has been associated with a favorable prognosis; however, prenatal evaluations in existing studies have been conducted using ultrasonography (US). This study aimed to describe the magnetic resonance imaging (MRI) findings, progression of ventricular asymmetry, and perinatal outcomes in fetuses prenatally diagnosed with isolated ventricular asymmetry. Methods: This retrospective study included patients who underwent MRI for isolated fetal ventricular asymmetry at a tertiary center between January 2012 and January 2020. Information, including pregnancy history, US, MRI findings, and perinatal outcomes, was obtained from medical records. Results: The study cohort included 17 women with fetal ventricular asymmetry but without ventriculomegaly at the time of index US. Mild ventriculomegaly subsequently developed in 13 patients; 12 of them showed spontaneous resolution before delivery. MRI identified low-grade intraventricular hemorrhage (IVH) in 13 fetuses. Postnatally, 12 newborns underwent neonatal cranial US where two of them showed evidence of germinal matrix hemorrhage. Both newborns appeared normal at birth without neonatal complications. Conclusion: MRI identified low-grade IVH in most fetuses with isolated ventricular asymmetry. These fetuses were also likely to develop mild ventriculomegaly with spontaneous resolution. Although perinatal outcomes appeared good, careful follow-up in both prenatal and postnatal periods is warranted.

Subjective and Objective Sonographic Assessment for the Prenatal Detection of Neonatal Coarctation of the Aorta

Introduction: The objective of this study was to assess the performance of antenatal ultrasound markers in detecting neonatal coarctation of the aorta (CoA). Methods: We performed a retrospective study including fetuses with suspected CoA and no other cardiac abnormalities. Data obtained from antenatal ultrasounds included subjective assessment of ventricular and arterial asymmetry, appearance of aortic arch, presence of a persistent left superior vena cava, and objective Z-score measurements of the mitral, tricuspid, aortic (AV), and pulmonary (PV) valves. Performance of antenatal ultrasound markers in predicting postnatal CoA was then assessed. Results: Of the 83 fetuses referred for suspected CoA, 30 (36.1%) had confirmed CoA postnatally. The sensitivity and specificity for antenatal diagnosis were 83.3% (95% confidence interval [CI]: 65.3–94.4%) and 45.3% (95% CI: 31.6–59.6%), respectively. Neonates with confirmed CoA had lower mean AV Z-scores (−2.1 vs. −1.1, p = 0.01), higher PV Z-scores (1.6 vs. 0.8, p = 0.03), and a lower AV/PV ratio (0.5 vs. 0.6, p < 0.001). Subjective assessments of symmetry and the incidence of persistent left superior vena cava did not differ between groups. Among the variables studied, the most promising marker for CoA was the AV/PV ratio (area under the receiver operating characteristics curve 0.81, 95% CI: 0.67–0.94). Conclusion: The use of objective sonographic markers, in particular measurements of the AV and PV, shows a trend toward an improvement in prenatal detection of CoA. Confirmation in larger studies is required.

Incidental findings on brain MRI in patients with first-episode and chronic psychosis

Brain incidental findings (IFs) are unexpected brain abnormalities detected by a structural magnetic resonance (MRI) examination. We conducted a study to assess whether brain IFs are associated with first-episode psychosis (FEP) and chronic psychosis (affective vs. non-affective) compared to healthy controls (HC).Chi-squared analyses were run to compare the frequency of several IFs across groups. Logistic regression analyses were run to explore the association between group and IFs, accounting for sex, age, MRI field strength.We observed a higher frequency of most IFs in both FEP and chronic psychosis groups compared to HC, however most of the chi-squared tests did not reach significance. Patients with FEP and chronic psychosis were 3–4 times more likely to show deep white matter hyperintensities (WMH) than HC. Patients with FEP and affective chronic psychosis were 3–4 times more likely to show ventricular asymmetries than HC. All chronic patients were more likely to show periventricular WMH, liquoral spaces enlargements and ventricular system enlargements respectively. Our results suggest that deep WMH and ventricular asymmetries are associated with both the early and the chronic stages of psychosis, thus representing potential vulnerability factors already present before the onset of the symptoms, possibly due to neurodevelopmental insults.

Lateral Ventricular Volume Asymmetry and Optic Nerve Sheath Diameter Predict Intracranial Pressure in Traumatic Brain Injury Patients.

Background Various noninvasive methods of intracranial pressure (ICP) measurement have been proposed. Each has unique advantages and limitations. This study was aimed at investigating the relationships between lateral ventricular asymmetry on admission computed tomography, optic nerve sheath diameter (ONSD), and ICP in traumatic brain injury (TBI) patients. Methods A prospective observational study was conducted in the patients admitted to our department between October 2018 and October 2020. 20 patients with moderate-severe TBI with a Glasgow Coma Scale of 3–12 were enrolled. Lateral ventricle volume (LVV) value measurements were conducted using ITK-SNAP software. The lateral ventricular volume ratio (LVR) was quantified by dividing the larger LVV by the smaller. Results ONSD and LVR had a good correlation with ICP. Admission LVR of >1.735 was shown to have a sensitivity of 90.9% and a specificity of 88.9% for prediction of ICP increase (AUC = 0.879; standard error = 0.091; 95% CI = 0.701 to 1.0; significance level p < 0.004). Admission ONSD of >5.55 mm was shown to have a sensitivity of 81.8% and a specificity of 88.9% for prediction of ICP increase (AUC = 0.919; standard error = 0.062; 95% CI = 0.798 to 1.0; significance level p < 0.002). Combining the ONSD and LVR, the sensitivity could be improved to 90.9% in parallel test, and the specificity could be improved to 100% in serial test. Conclusion ONSD and LVR measurements can diagnose elevated ICP in traumatic brain injury patients. ONSD combining with LVR may further improve the diagnostic evaluation.

Endoscopic Monro Foraminoplasty, types, techniques and complications avoidance

AimThis study aimed to unveil the proper selection of suitable pathologies eligible for foraminoplasty, types per surgical target, and avoidance of complications. MethodsOut of 3425 cranial endoscopic procedures performed through over a quarter of a century, in two Egyptian University Medical Centre, 250 cases subjected to “Endoscopic Monro Foraminoplasty (EMF)” were reviewed. Preoperative MRI T2 including coronal sequence were obtained. Solid lesions up to 2 cm above the foramen of Monro were considered for excision foraminoplasty. Dilatation and restoration foraminoplasty were performed using Fogarty balloon catheter. Combined EMF and pellucidotomy eliminated the need for bilateral foraminoplasty. Patients' age ranged from 3 months to 55 years, with a follow-up period of 2–12 years. ResultsTriventricular hydrocephalus with lateral ventricular asymmetry was in 45.2% of the cases, while bilateral foraminal occlusion with equal sized lateral ventricles were detected in 18.8%. Biventricular hydrocephalus was seen in 27.2% of patients. Biventricular hydrocephalus involved both lateral ventricles in 24% of cases while involvement of single lateral ventricle and the third ventricle contributed to 3.2% of cases. Unilateral hydrocephalus was reported in 8.8%%. Congenital bilateral pinhole stenosis was dilated in four infants. Foraminoplasty can be sorted into three types: Dilatation Foraminoplasty used to treat congenital (1.6%), idiopathic (6.4%) or post hemorrhagic/meningitic (15.6%) stenosis; Restoration Foraminoplasty used to fenestrate a membrane (12%) or cyst wall nearby the foramen (22%); and Excision Foraminoplasty for solid space-occupying lesions (SOL) (4%), partially cystic tumors (38.4%) may require combined aspiration and squeeze foraminoplasty especially in retro-foraminal colloid cysts with coapted foramen edges. The only reported -to this specific procedure-complication was transient remediable memory disturbance. ConclusionsEndoscopic Monro Foraminoplasty is a definitive neuroendoscopic treatment procedure. It deserves abbreviation assignment (EMF).

The role of head circumference and cerebral volumes to phenotype male adults with autism spectrum disorder.

BackgroundAutism spectrum disorder (ASD) has been repeatedly associated with enlargements of head circumference in children with ASD. However, it is unclear if these enlargements persist into adulthood. This is the first study to investigate head circumference in a large sample of adults with ASD.MethodsWe apply a fully automated magnetic resonance imaging (MRI) based measurement approach to compute head circumference by combining 3D and 2D image processing. Head circumference was compared between male adults with ASD (n = 120) and healthy male controls (n = 136), from the Autism Brain Imaging Data Exchange (ABIDE) database. To explain which brain alterations drive our results, secondary analyses were performed for 10 additional morphological brain metrics.ResultsASD subjects showed an increase in head circumference (p = .0018). In addition, ASD patients had increased ventricular surface area (SA) (p = .0013). Intracranial volume, subarachnoidal cerebrospinal fluid (CSF) volume, and gray matter volume explained 50% of head circumference variance. Using a linear support vector machine, we gained an ASD classification accuracy of 73% (sensitivity 92%, specificity 68%) using head circumference and brain‐morphological metrics as input features. Head circumference, ventricular SA, ventricular CSF volume, and ventricular asymmetry index contributed to 85% of feature weighting relevant for classification.ConclusionOur results suggest that head circumference increases in males with ASD persist into adulthood. Results may be driven by morphological alterations of ventricular CSF. The presented approach for an automated head circumference measurement allows for the retrospective investigation of large MRI datasets in neuropsychiatric disorders.

Ventriculomegaly in Cavalier King Charles Spaniels with Chiari-like malformation: relationship with clinical and imaging findings.

The objective of this study was to calculate lateral ventricles dimension in Cavalier King Charles Spaniel dogs with Chiari-like malformation and investigate the association between ventriculomegaly and signalment, clinical signs, ventricular asymmetry, grade of Chiari-like malformation, syringomyelia and index of medullary kinking. Retrospectively, 43 client-owned Cavalier King Charles Spaniels, older than 1 year of age, with magnetic resonance imaging diagnosis of Chiari-like malformation were enrolled. Initial and follow-up (up to 36 months) clinical status was graded. Images were reviewed to quantify the enlargement of lateral ventricles, evaluate ventricular symmetry, grade of Chiari-like malformation, grade of syringomyelia and medullary kinking index. Cases presenting epileptic seizures during the evaluation period were also recorded. The most common initial clinical signs were scratching and neck pain. Ventriculomegaly was identified in 70% of dogs, Chiari-like malformation grade 2 was observed in 77% of cases, ventricular asymmetry and syringomyelia were identified in 54% and 80% of dogs, respectively; the median medullary kinking index was 37.77%. Moreover, 28% of dogs presented epileptic seizures. No significant association was identified between dimension of lateral ventricles and signalment, clinical signs, and imaging findings; no significant association was identified between ventriculomegaly and epilepsy (P≥0.05). In conclusion, the prevalence of ventriculomegaly in Cavalier King Charles Spaniels is high but this finding does not seem related to the severity of clinical signs, presence of Chiari-like malformation, syringomyelia and craniocervical junction abnormalities such as medullary kinking.

The Significance of Fetal Brain Ventricular Asymmetry Without Dilation.

Fetal brain non-dilated ventricular asymmetry (NDVA) is a common finding on prenatal ultrasound exams. However, the optimal prenatal management in these cases remains unknown. We aimed to evaluate the benefit of prenatal genetic and magnetic resonance imaging (MRI) exams performed in cases of fetal NDVA detected on ultrasound. A historical cohort study from a tertiary medical center. Singleton pregnancies with fetal brain NDVA diagnosed on ultrasound were included. We defined ventricular asymmetry as a difference of ≥2.0 mm between the lateral ventricles and ventricular dilation as ventricular width of >10.0 mm. Outcomes were evaluated with genetic exams (karyotype and chromosomal microarray analysis [CMA]) and fetal brain MRI. During the study period, there were 145 cases diagnosed with NDVA on ultrasound that comprised the cohort study. The rate of abnormal karyotype was 1.8% (1/56) and of abnormal CMA was 10% (3/30). The rate of minor additional CNS findings did not differ between ultrasound and MRI (3.4 versus 2.8%, respectively, p= .74). No major additional fetal brain findings were detected on MRI performed after ultrasound. In cases diagnosed with NDVA on ultrasound, no significant additional anomalies were detected on fetal brain MRI. The rate of abnormal genetic tests was relatively high and warrants further studies.

Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family

Major facilitator superfamily domain-containing 2A (MFSD2A) is required for brain uptake of Docosahexaenoic acid and Lysophosphatidylcholine, both are essential for the normal neural development and function. Mutations in MFSD2A dysregulate the activity of this transporter in brain endothelial cells and can lead to microcephaly. In this study, we describe an 11-year-old male who is affected by autosomal recessive primary microcephaly 15. This patient also shows severe intellectual disability, recurrent respiratory and renal infections, low birth weight, and developmental delay. After doing clinical and neuroimaging evaluations, due to heterogeneity of neurogenetic disorders, no narrow clinical diagnosis was possible, therefore, we utilized targeted-exome sequencing to identify any causative genetic factors. This revealed a homozygous in-frame deletion (NM_001136493.1: c.241_243del; p.(Val81del)) in the MFSD2A gene as the most likely disease-susceptibility variant which was confirmed by Sanger sequencing. Neuroimaging revealed lateral ventricular asymmetry, corpus callosum hypoplasia, type B of cisterna magna, and widening of Sylvian fissures. All of these novel phenotypes are associated with autosomal recessive primary microcephaly-15 (MCPH15). According to the genotype-phenotype data, p.(Val81del) can be considered a likely pathogenic variant leading to non-lethal microcephaly. However, further cumulative data and molecular approaches are required to accurately identify genotype-phenotype correlations in MFSD2A.

Imaging predictors of response to cardiac resynchronization therapy: left ventricular work asymmetry by echocardiography and septal viability by cardiac magnetic resonance.

Aims Left ventricular (LV) failure in left bundle branch block is caused by loss of septal function and compensatory hyperfunction of the LV lateral wall (LW) which stimulates adverse remodelling. This study investigates if septal and LW function measured as myocardial work, alone and combined with assessment of septal viability, identifies responders to cardiac resynchronization therapy (CRT).Methods and results In a prospective multicentre study of 200 CRT recipients, myocardial work was measured by pressure-strain analysis and viability by cardiac magnetic resonance (CMR) imaging (n = 125). CRT response was defined as ≥15% reduction in LV end-systolic volume after 6 months. Before CRT, septal work was markedly lower than LW work (P < 0.0001), and the difference was largest in CRT responders (P < 0.001). Work difference between septum and LW predicted CRT response with area under the curve (AUC) 0.77 (95% CI: 0.70–0.84) and was feasible in 98% of patients. In patients undergoing CMR, combining work difference and septal viability significantly increased AUC to 0.88 (95% CI: 0.81–0.95). This was superior to the predictive power of QRS morphology, QRS duration and the echocardiographic parameters septal flash, apical rocking, and systolic stretch index. Accuracy was similar for the subgroup of patients with QRS 120–150 ms as for the entire study group. Both work difference alone and work difference combined with septal viability predicted long-term survival without heart transplantation with hazard ratio 0.36 (95% CI: 0.18–0.74) and 0.21 (95% CI: 0.072–0.61), respectively.ConclusionAssessment of myocardial work and septal viability identified CRT responders with high accuracy.

Early Postnatal Echocardiography in Neonates with a Prenatal Suspicion of Coarctation of the Aorta

Coarctation of the aorta (COA) is suspected prenatally when there is ventricular asymmetry, arterial disproportion, and hypoplasia of the aortic arch/isthmus. The presence of fetal shunts creates difficulty in prenatal confirmation of the diagnosis so serial echocardiography after birth is necessary to confirm or refute the diagnosis. The first neonatal echocardiogram in prenatally suspected cases of COA was assessed for prediction of neonatal COA repair (NCOAR). This included morphological assessment, measurement of the aortic arch and calculation of the distal arch index (DAI = distance between left common carotid and left subclavian artery/diameter of thedistal arch). NCOAR was undertaken in 23/60 (38%) cases. Transverse arch, aortic isthmus z-score, and DAI had an area under the receiver operator curve of 0.88 (95% CI 0.77-0.98), 0.86 (95% CI 0.75-0.96), and 0.84 (95% CI 0.74-0.95), respectively for the prediction of NCOAR. Using transverse arch z-score threshold < - 3 gave sensitivity 100%, NPV: 100%, specificity 76%; aortic isthmus z-score < - 3: NPV 92%, specificity 62% and DAI > 1.4: NPV 88%, specificity 78%. The size of the distal aortic arch in infants with a common origin of the innominate artery and left common carotid artery who did not require COA repair was similar to the NCOAR cases (p = 0.22). The early postnatal assessment of the size and morphology of the aortic arch can assist in risk stratification for development of neonatal COA. The branching pattern of the head/neck vessels impacts on the size of the distal aortic arch adding to the complexity of predicting COA based on vessel size.

Quantification of the Asymmetry between Right and Left Cerebral Lateral Ventricles by Indexing Methods

To retrospectively analyze hydrocephalus and lateral ventricular asymmetry by measuring the midline shift, Evans index, right and left semi-Evans index, Right and left semi-callosal angles, superior ophthalmic vein (SOV) diameters, and to compare these findings with the control group. The study included 93 cases with hydrocephalus, 80 cases with asymmetrical lateral ventricles (ALV) and 83 control cases with normal findings who had cranial magnetic resonance imaging (MRI) in our institute between the years 2011 and 2016. A senior and junior radiologist analyzed the images and performed the measurements, and the results were compared. The cut-off points for the Evans index and right and left semi-Evans indexes for differentiating hydrocephalus and ALV were calculated as 28.68%, 30.77%, and 30.88%, respectively. The septum shift degree was significantly higher in the ALV group compared to the control group (P = 0.010; P < 0.05). ALV or hydrocephalus were not found to be associated with SOV enlargement. The SOVs were not found to be enlarged ipsilateral to asymmetrically enlarged lateral ventricle. Lower Evans and right and left semi-Evans indices are seen in ALV. Despite some limitations, the Evans index could still be used to differentiate hydrocephalus and ALV. Mild ALV is mostly associated with an off-midline septum. SOV diameter and enlargement are not indicators of hydrocephalus or ALV.

Atrioventricular Plane Displacement on Echocardiography in Patients with Left Ventricular Systolic Dysfunction

Background: Atrioventricular plane displacement (AVPD) reflects global left ventricular function despite left ventricular asymmetry as it is determined in four different regions of left ventricle. The limitations of agreement between left ventricular ejection fraction (LVEF) and AVPD are not close enough for these two measurements to be interchangeable. There is reason to question whether AVPD provides the same information as LVEF. Aim: The aim of this study was to assess relations of AVPD with LVEF and clinical findings in patients left ventricular failure (LVF). Materials and Methods: One hundred patients aged ≥18 years with coronary artery disease admitted with LVF were included in this cross sectional study. Echocardiographic examination was performed. Left ventricular AVPD was evaluated by M mode, in the four and two chamber views. Primary aim was to compare AVPD with LVEF by echocardiography. Secondary outcome measures were comparison of AVPD with traditional risk factors, clinical features, and pro-B-type natriuretic peptide (BNP) levels. Comparison of qualitative and quantitative variables was done by using Chi-square test/Fisher's exact test and unpaired t-test. Pearson's correlation was used to study correlation. Results: Mean AVPD was significantly lower in patients with severe LVEF as compared to mild, and moderate LVEF. Correlation of AVPD with LVEF, pro BNP, septum, anterior, lateral and posterior wall hypokinesia was 0.895. 0.841, 0.898, 0.911, 0.893 and 0.907 respectively. Conclusions: Mean AVPD was significantly lower in patients with severe LVEF. Mean AVPD positively correlated with LVEF, pro BNP, septum, anterior, lateral and posterior wall hypokinesia.