Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the right ventricle and associated tricuspid valve (TV) alone support the circulation. TV failure is thus associated with heart failure, and the outcome of TV valve repair are currently poor. 3D echocardiography (3DE) can generate high-quality images of the valve, but segmentation is necessary for precise modeling and quantification. There is currently no robust methodology for rapid TV segmentation, limiting the clinical application of these technologies to this challenging population. We utilized a Fully Convolutional Network (FCN) to segment tricuspid valves from transthoracic 3DE. We trained on 133 3DE image-segmentation pairs and validated on 28 images. We then assessed the effect of varying inputs to the FCN using Mean Boundary Distance (MBD) and Dice Similarity Coefficient (DSC). The FCN with the input of an annular curve achieved a median DSC of 0.86 [IQR: 0.81–0.88] and MBD of 0.35 [0.23–0.4] mm for the merged segmentation and an average DSC of 0.77 [0.73–0.81] and MBD of 0.6 [0.44–0.74] mm for individual TV leaflet segmentation. The addition of commissural landmarks improved individual leaflet segmentation accuracy to an MBD of 0.38 [0.3–0.46] mm. FCN-based segmentation of the tricuspid valve from transthoracic 3DE is feasible and accurate. The addition of an annular curve and commissural landmarks improved the quality of the segmentations with MBD and DSC within the range of human inter-user variability. Fast and accurate FCN-based segmentation of the tricuspid valve in HLHS may enable rapid modeling and quantification, which in the future may inform surgical planning. We are now working to deploy this network for public use.
Background: A 25-year-old woman of English/Irish background was diagnosed with hemochromatosis. She manifested hypogonadotrophic hypogonadism and congestive heart failure. Although there were abnormal liver function tests, no cirrhosis was present. The patient has been treated intermittently by phlebotomy for 24 years. The aim of this study was to investigate the genetic basis of the patient’s iron overload disease. Methods: Genetic analysis was performed by direct sequencing of the genes for hemojuvelin, HFE, hepcidin, fer- roportin and transferrin receptor 2. Results and Con clusions: Molecular analysis showed that the patient was homozygous for a previously undescribed mutation of HJV, the gene encoding hemojuvelin. This mutation, nt 81G deletion, causes a frameshift encoding 23 additional irrelevant amino acids and premature termination. No mutations were found in the other hemochromatosis genes, hepcidin, HFE, ferroportin or transferrin receptor 2, which might have contributed to her iron overload.
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