Large-scale Quality Control of Cardiac Imaging in Population Studies: Application to UK Biobank

In large population studies such as the UK Biobank (UKBB), quality control of the acquired images by visual assessment is unfeasible. In this paper, we apply a recently developed fully-automated quality control pipeline for cardiac MR (CMR) images to the first 19,265 short-axis (SA) cine stacks from the UKBB. We present the results for the three estimated quality metrics (heart coverage, inter-slice motion and image contrast in the cardiac region) as well as their potential associations with factors including acquisition details and subject-related phenotypes. Up to 14.2% of the analysed SA stacks had sub-optimal coverage (i.e. missing basal and/or apical slices), however most of them were limited to the first year of acquisition. Up to 16% of the stacks were affected by noticeable inter-slice motion (i.e. average inter-slice misalignment greater than 3.4 mm). Inter-slice motion was positively correlated with weight and body surface area. Only 2.1% of the stacks had an average end-diastolic cardiac image contrast below 30% of the dynamic range. These findings will be highly valuable for both the scientists involved in UKBB CMR acquisition and for the ones who use the dataset for research purposes

Missing Slice Imputation in Population CMR Imaging via Conditional Generative Adversarial Nets

Accurate ventricular volume measurements depend on complete heart coverage in cardiac magnetic resonance (CMR) from where most immediate indicators of normal/abnormal cardiac function are available non-invasively. However, incomplete coverage, especially missing basal or apical slices in CMR sequences is insufficiently addressed in population imaging and current clinical research studies yet has important impact on volume calculation accuracy. In this work, we propose a new deep architecture, coined Missing Slice Imputation Generative Adversarial Network (MSIGAN), to learn key features of cardiac short-axis (SAX) slices across different positions, and use them as conditional variables to effectively infer missing slices in the query volumes. In MSIGAN, the slices are first mapped to latent vectors with position features through a regression net. The latent vector corresponding to the desired position is then projected onto the slice manifold conditional on slice intensity through a generator net. The latent vector along with the slice features (i.e., intensity) and desired position control the generation vs. regression. Two adversarial networks are imposed on the regressor and generator, encouraging more realistic slices. Experimental results show that our method outperforms the previous state-of-the-art in missing slice imputation for cardiac MRI

Automatic Assessment of Full Left Ventricular Coverage in Cardiac Cine Magnetic Resonance Imaging With Fisher-Discriminative 3-D CNN

Cardiac magnetic resonance (CMR) images play a growing role in the diagnostic imaging of cardiovascular diseases. Full coverage of the left ventricle (LV), from base to apex, is a basic criterion for CMR image quality and is necessary for accurate measurement of cardiac volume and functional assessment. Incomplete coverage of the LV is identified through visual inspection, which is time consuming and usually done retrospectively in the assessment of large imaging cohorts. This paper proposes a novel automatic method for determining LV coverage from CMR images by using Fisher-discriminative three-dimensional (FD3D) convolutional neural networks (CNNs). In contrast to our previous method employing 2-D CNNs, this approach utilizes spatial contextual information in CMR volumes, extracts more representative high-level features, and enhances the discriminative capacity of the baseline 2-D CNN learning framework, thus, achieving superior detection accuracy. A two-stage framework is proposed to identify missing basal and apical slices in measurements of CMR volume. First, the FD3D CNN extracts high-level features from the CMR stacks. These image representations are then used to detect the missing basal and apical slices. Compared to the traditional 3-D CNN strategy, the proposed FD3D CNN minimizes within-class scatter and maximizes between-class scatter. We performed extensive experiments to validate the proposed method on more than 5000 independent volumetric CMR scans from the UK Biobank study, achieving low error rates for missing basal/apical slice detection (4.9%/4.6%). The proposed method can also be adopted for assessing LV coverage for other types of CMR image data

Deep learning for accelerated magnetic resonance imaging

Medical imaging has aided the biggest advance in the medical domain in the last century. Whilst X-ray, CT, PET and ultrasound are a form of imaging that can be useful in particular scenarios, they each have disadvantages in cost, image quality, ease-of-use and ionising radiation. MRI is a slow imaging protocol which contributes to its high cost to run. However, MRI is a very versatile imaging protocol allowing images of varying contrast to be easily generated whilst not requiring the use of ionising radiation. If MRI can be made to be more efficient and smart, the effective cost of running MRI may be more affordable and accessible. The focus of this thesis is decreasing the acquisition time involved in MRI whilst maintaining the quality of the generated images and thus diagnosis. In particular, we focus on data-driven deep learning approaches that aid in the image reconstruction process and streamline the diagnostic process. We focus on three particular aspects of MR acquisition. Firstly, we investigate the use of motion estimation in the cine reconstruction process. Motion allows us to combine an abundance of imaging data in a learnt reconstruction model allowing acquisitions to be sped up by up to 50 times in extreme scenarios. Secondly, we investigate the possibility of using under-acquired MR data to generate smart diagnoses in the form of automated text reports. In particular, we investigate the possibility of skipping the imaging reconstruction phase altogether at inference time and instead, directly seek to generate radiological text reports for diffusion-weighted brain images in an effort to streamline the diagnostic process. Finally, we investigate the use of probabilistic modelling for MRI reconstruction without the use of fully-acquired data. In particular, we note that acquiring fully-acquired reference images in MRI can be difficult and nonetheless may still contain undesired artefacts that lead to degradation of the dataset and thus the training process. In this chapter, we investigate the possibility of performing reconstruction without fully-acquired references and furthermore discuss the possibility of generating higher quality outputs than that of the fully-acquired references.Open Acces

Multi-input and dataset-invariant adversarial learning (MDAL) for left and right-ventricular coverage estimation in cardiac MRI

Cardiac functional parameters, such as, the Ejection Fraction (EF) and Cardiac Output (CO) of both ventricles, are most immediate indicators of normal/abnormal cardiac function. To compute these parameters, accurate measurement of ventricular volumes at end-diastole (ED) and end-systole (ES) are required. Accurate volume measurements depend on the correct identification of basal and apical slices in cardiac magnetic resonance (CMR) sequences that provide full coverage of both left (LV) and right (RV) ventricles. This paper proposes a novel adversarial learning (AL) approach based on convolutional neural networks (CNN) that detects and localizes the basal/apical slices in an image volume independently of image-acquisition parameters, such as, imaging device, magnetic field strength, variations in protocol execution, etc. The proposed model is trained on multiple cohorts of different provenance, and learns image features from different MRI viewing planes to learn the appearance and predict the position of the basal and apical planes. To the best of our knowledge, this is the first work tackling the fully automatic detection and position regression of basal/apical slices in CMR volumes in a dataset-invariant manner. We achieve this by maximizing the ability of a CNN to regress the position of basal/apical slices within a single dataset, while minimizing the ability of a classifier to discriminate image features between different data sources. Our results show superior performance over state-of-the-art methods

Reference ranges for cardiac structure and function using cardiovascular magnetic resonance (CMR) in Caucasians from the UK Biobank population cohort

Background: Cardiovascular magnetic resonance (CMR) is the gold standard method for the assessment of cardiac structure and function. Reference ranges permit differentiation between normal and pathological states. To date, this study is the largest to provide CMR specific reference ranges for left ventricular, right ventricular, left atrial and right atrial structure and function derived from truly healthy Caucasian adults aged 45-74. Methods: Five thousand sixty-five UK Biobank participants underwent CMR using steady-state free precession imaging at 1.5 Tesla. Manual analysis was performed for all four cardiac chambers. Participants with non-Caucasian ethnicity, known cardiovascular disease and other conditions known to affect cardiac chamber size and function were excluded. Remaining participants formed the healthy reference cohort; reference ranges were calculated and were stratified by gender and age (45-54, 55-64, 65-74). Results: After applying exclusion criteria, 804 (16.2%) participants were available for analysis. Left ventricular (LV) volumes were larger in males compared to females for absolute and indexed values. With advancing age, LV volumes were mostly smaller in both sexes. LV ejection fraction was significantly greater in females compared to males (mean ± standard deviation [SD] of 61 ± 5% vs 58 ± 5%) and remained static with age for both genders. In older age groups, LV mass was lower in men, but remained virtually unchanged in women. LV mass was significantly higher in males compared to females (mean ± SD of 53 ± 9 g/m2 vs 42 ± 7 g/m2). Right ventricular (RV) volumes were significantly larger in males compared to females for absolute and indexed values and were smaller with advancing age. RV ejection fraction was higher with increasing age in females only. Left atrial (LA) maximal volume and stroke volume were significantly larger in males compared to females for absolute values but not for indexed values. LA ejection fraction was similar for both sexes. Right atrial (RA) maximal volume was significantly larger in males for both absolute and indexed values, while RA ejection fraction was significantly higher in females. Conclusions: We describe age- and sex-specific reference ranges for the left ventricle, right ventricle and atria in the largest validated normal Caucasian population.ope

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

BACKGROUND: We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern. RESULTS: Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject. CONCLUSIONS: We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis