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Clinical Medicine Insights. Cardiology 2022Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart...
Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass. A chest and abdominal computed tomography (CT) identified heterotaxy syndrome with left isomerism and fused adrenal glands. This case highlights the feature of fused adrenal glands in a patient with polysplenia.
PubMed: 36187466
DOI: 10.1177/11795468221116851 -
Cureus Aug 2022Background Heart murmurs are defined as whooshing or swishing sounds, unlike the normal lub-dub sounds detected by physicians while using a stethoscope. They usually...
Background Heart murmurs are defined as whooshing or swishing sounds, unlike the normal lub-dub sounds detected by physicians while using a stethoscope. They usually develop due to numerous pathologies, with congenital defects accounting for the majority of pediatric murmurs. Few studies have addressed the difference in auscultating skills between senior and junior healthcare providers. Therefore, this study aims to collect local data on this topic as well as identify the gap between experienced and inexperienced providers in their ability to accurately detect heart murmurs. Methodology This study utilizes a quantitative retrospective design to collect data from King Abdulaziz Medical City and King Faisal Cardiac Centre, Saudi Arabia, from October 1, 2018, to September 30, 2019. The medical records of 292 pediatric patients, who were 14 years of age or below according to the centers' aging system, were collected from the Hospital Information System (BESTCare). Subsequently, it was determined whether a senior (R3-R4 residents and above) or a junior (R1-R2 residents and interns) healthcare provider ordered an echocardiogram (ECHO). Finally, using the centers' imaging system (Xcelera) the exact reason for referral, heart murmurs in the case of this study, was obtained, as well as whether a pathologic cause of a murmur was seen in the ECHO image. By obtaining the aforementioned data, the accuracy of each referral was analyzed using statistical analysis software. Results ECHO results were categorized into positive and negative outcomes depending on the presence of a structural heart defect, patent foramen ovale (PFO) was considered negative as it causes innocent murmurs. The majority of positive results were atrial septal defects, patent ductus arteriosus, and ventricular septal defects. The majority of negative results were either a structurally normal heart or PFO, which a great number of providers ordered an ECHO for. The Pearson score p-value using the chi-square test was 0.432, leading to the conclusion that junior and senior providers had a similar accuracy of referrals during the study period. Conclusions Junior healthcare providers display sufficient knowledge of heart murmur auscultation skills similar to senior healthcare providers during the study period. However, because the data only included two local centers with a limited sample and the absence of further local research on this topic, it is necessary to conduct studies of a larger scope on this topic.
PubMed: 36185889
DOI: 10.7759/cureus.28495 -
PloS One 2022Restrictive cardiomyopathy (RCM) is a rare disease characterized by increased ventricular stiffness and preserved ventricular contraction. Various sarcomere gene...
Restrictive cardiomyopathy (RCM) is a rare disease characterized by increased ventricular stiffness and preserved ventricular contraction. Various sarcomere gene variants are known to cause RCM; however, more than a half of patients do not harbor such pathogenic variants. We recently demonstrated that cardiac fibroblasts (CFs) play important roles in inhibiting the diastolic function of cardiomyocytes via humoral factors and direct cell-cell contact regardless of sarcomere gene mutations. However, the mechanical properties of CFs that are crucial for intercellular communication and the cardiomyocyte microenvironment remain less understood. In this study, we evaluated the rheological properties of CFs derived from pediatric patients with RCM and healthy control CFs via atomic force microscopy. Then, we estimated the cellular modulus scale factor related to the cell stiffness, fluidity, and Newtonian viscosity of single cells based on the single power-law rheology model and analyzed the comprehensive gene expression profiles via RNA-sequencing. RCM-derived CFs showed significantly higher stiffness and viscosity and lower fluidity compared to healthy control CFs. Furthermore, RNA-sequencing revealed that the signaling pathways associated with cytoskeleton elements were affected in RCM CFs; specifically, cytoskeletal actin-associated genes (ACTN1, ACTA2, and PALLD) were highly expressed in RCM CFs, whereas several tubulin genes (TUBB3, TUBB, TUBA1C, and TUBA1B) were down-regulated. These results implies that the signaling pathways associated with cytoskeletal elements alter the rheological properties of RCM CFs, particularly those related to CF-cardiomyocyte interactions, thereby leading to diastolic cardiac dysfunction in RCM.
Topics: Actins; Cardiomyopathy, Restrictive; Child; Fibroblasts; Heart Murmurs; Humans; Microscopy, Atomic Force; Myocytes, Cardiac; RNA; Rheology; Tubulin
PubMed: 36174041
DOI: 10.1371/journal.pone.0275296 -
Biomedical Engineering Online Sep 2022With the spread of COVID-19, telemedicine has played an important role, but tele-auscultation is still unavailable in most countries. This study introduces and tests a...
BACKGROUND
With the spread of COVID-19, telemedicine has played an important role, but tele-auscultation is still unavailable in most countries. This study introduces and tests a tele-auscultation system (Stemoscope) and compares the concordance of the Stemoscope with the traditional stethoscope in the evaluation of heart murmurs.
METHODS
A total of 57 patients with murmurs were recruited, and echocardiographs were performed. Three cardiologists were asked to correctly categorize heart sounds (both systolic murmur and diastolic murmur) as normal vs. abnormal with both the Stemoscope and a traditional acoustic stethoscope under different conditions. Firstly, we compared the in-person auscultation agreement between Stemoscope and the conventional acoustic stethoscope. Secondly, we compared tele-auscultation (recorded heart sounds) agreement between Stemoscope and acoustic results. Thirdly, we compared both the Stemoscope tele-auscultation results and traditional acoustic stethoscope in-person auscultation results with echocardiography. Finally, ten other cardiologists were asked to complete a qualitative questionnaire to assess their experience using the Stemoscope.
RESULTS
For murmurs detection, the in-person auscultation agreement between Stemoscope and the acoustic stethoscope was 91% (p = 0.67). The agreement between Stemoscope tele-auscultation and the acoustic stethoscope in-person auscultation was 90% (p = 0.32). When using the echocardiographic findings as the reference, the agreement between Stemoscope (tele-auscultation) and the acoustic stethoscope (in-person auscultation) was 89% vs. 86% (p = 1.00). The system evaluated by ten cardiologists is considered easy to use, and most of them would consider using it in a telemedical setting.
CONCLUSION
In-person auscultation and tele-auscultation by the Stemoscope are in good agreement with manual acoustic auscultation. The Stemoscope is a helpful heart murmur screening tool at a distance and can be used in telemedicine.
Topics: Auscultation; COVID-19; Electronics; Heart Auscultation; Heart Murmurs; Humans; Stethoscopes
PubMed: 36068509
DOI: 10.1186/s12938-022-01032-4 -
Annals of Medicine and Surgery (2012) Aug 2022Valvular heart disease is highly prevalent, especially in developing countries. Mitral Stenosis (MS) is a condition where there is narrowing of mitral heart valve. Left...
INTRODUCTION
Valvular heart disease is highly prevalent, especially in developing countries. Mitral Stenosis (MS) is a condition where there is narrowing of mitral heart valve. Left atrial (LA) thrombus is often seen in severe MS patients.
CASE PRESENTATION
A 47-year-old woman complained of palpitation and shortness of breath. The heart sounded irregularly irregular, with grade III/IV diastolic murmurs at the apex. Her electrocardiogram showed atrial fibrillation (AF) with rapid ventricular response Transthoracal echocardiography (TTE) showed severe MS, mild tricuspid regurgitation, and LA thrombus. Mitral valve replacement surgery, tricuspid valve repair, and evacuation of the LA thrombus were immediately done. We evacuated a spherical mass with a size of 4 × 3x2.2 cm, layered and easily separated. Microscopic examination showed extensive fibrin and bleeding with mononuclear inflammatory cells and macrophages, corresponding to a thrombus conclusion.
CLINICAL DISCUSSION
Atrial thrombus is common in MS patients. The incidence will increase by about two times in patients with AF. TTE is a reliable tool in diagnosing large mobile atrial thrombus and differentiated it from other cardiac masses. However, histopathological examination is still the gold standard to distinguish between LA thrombus and myxoma. Immediate thrombus evacuation and valve replacement, if needed, will give good results and reduce systemic thromboembolism.
CONCLUSION
LA thrombus is often seen in a patient with severe MS. Optimal preoperative preparation involves assessing preoperative risk stratification will give good results.
PubMed: 36045842
DOI: 10.1016/j.amsu.2022.104328 -
BMC Medical Informatics and Decision... Aug 2022The application of machine learning to cardiac auscultation has the potential to improve the accuracy and efficiency of both routine and point-of-care screenings. The...
BACKGROUND
The application of machine learning to cardiac auscultation has the potential to improve the accuracy and efficiency of both routine and point-of-care screenings. The use of convolutional neural networks (CNN) on heart sound spectrograms in particular has defined state-of-the-art performance. However, the relative paucity of patient data remains a significant barrier to creating models that can adapt to a wide range of potential variability. To that end, we examined a CNN model's performance on automated heart sound classification, before and after various forms of data augmentation, and aimed to identify the most optimal augmentation methods for cardiac spectrogram analysis.
RESULTS
We built a standard CNN model to classify cardiac sound recordings as either normal or abnormal. The baseline control model achieved a PR AUC of 0.763 ± 0.047. Among the single data augmentation techniques explored, horizontal flipping of the spectrogram image improved the model performance the most, with a PR AUC of 0.819 ± 0.044. Principal component analysis color augmentation (PCA) and perturbations of saturation-value (SV) of the hue-saturation-value (HSV) color scale achieved a PR AUC of 0.779 ± 045 and 0.784 ± 0.037, respectively. Time and frequency masking resulted in a PR AUC of 0.772 ± 0.050. Pitch shifting, time stretching and compressing, noise injection, vertical flipping, and applying random color filters negatively impacted model performance. Concatenating the best performing data augmentation technique (horizontal flip) with PCA and SV perturbations improved model performance.
CONCLUSION
Data augmentation can improve classification accuracy by expanding and diversifying the dataset, which protects against overfitting to random variance. However, data augmentation is necessarily domain specific. For example, methods like noise injection have found success in other areas of automated sound classification, but in the context of cardiac sound analysis, noise injection can mimic the presence of murmurs and worsen model performance. Thus, care should be taken to ensure clinically appropriate forms of data augmentation to avoid negatively impacting model performance.
Topics: Heart Sounds; Humans; Machine Learning; Neural Networks, Computer
PubMed: 36038901
DOI: 10.1186/s12911-022-01942-2 -
Diagnostics (Basel, Switzerland) Aug 2022Our aim is to contribute to the classification of anomalous patterns in biosignals using this novel approach. We specifically focus on melanoma and heart murmurs. We use...
Our aim is to contribute to the classification of anomalous patterns in biosignals using this novel approach. We specifically focus on melanoma and heart murmurs. We use a comparative study of two convolution networks in the Complex and Real numerical domains. The idea is to obtain a powerful approach for building portable systems for early disease detection. Two similar algorithmic structures were chosen so that there is no bias determined by the number of parameters to train. Three clinical data sets, ISIC2017, PH2, and Pascal, were used to carry out the experiments. Mean comparison hypothesis tests were performed to ensure statistical objectivity in the conclusions. In all cases, complex-valued networks presented a superior performance for the Precision, Recall, F1 Score, Accuracy, and Specificity metrics in the detection of associated anomalies. The best complex number-based classifier obtained in the Receiving Operating Characteristic (ROC) space presents a Euclidean distance of 0.26127 with respect to the ideal classifier, as opposed to the best real number-based classifier, whose Euclidean distance to the ideal is 0.36022 for the same task of melanoma detection. The 27.46% superiority in this metric, as in the others reported in this work, suggests that complex-valued networks have a greater ability to extract features for more efficient discrimination in the dataset.
PubMed: 36010243
DOI: 10.3390/diagnostics12081893 -
Telehealth and Application of Appropriate Use Criteria for Pediatric Transthoracic Echocardiography.Pediatric Cardiology Mar 2023Appropriate use criteria (AUC) for the performance of outpatient transthoracic echocardiography are based on history, physical examination and electrocardiograms....
Appropriate use criteria (AUC) for the performance of outpatient transthoracic echocardiography are based on history, physical examination and electrocardiograms. Telehealth provides access to clinical care in the absence of a physical examination. We assessed application of AUC for performance of echocardiography following a telehealth visit. In this single center study, we retrospectively reviewed the charts of pediatric patients whose originally scheduled in person visits were converted to telehealth visits between March and May 2020. Patients were referred for echocardiogram by the telehealth cardiologist. Echocardiograms requested during the telehealth visit were retrospectively classified as appropriate [A], may be appropriate [M], or rarely appropriate [R] by two independent reviewers. Findings from the echocardiogram were classified as normal, abnormal, or abnormal and motivating treatment by the same two independent reviewers based upon results from the echocardiogram report and physician office visit note. Of the 441 patients seen by telehealth, interquartile range of 1.9-15.3 years, 114 (26%) patients were referred for an echocardiogram. Of the patients for whom echocardiograms were requested, 56/114 (49%) were new to cardiology. Echocardiograms were rated: A-85 (75%), M-5 (4%), and R-24 (21%). Of the 108 completed studies, 61 (56%) were normal, 44 (41%) were abnormal, and three (3%) were abnormal motivating treatment. Abnormal TTE findings were not detected in the R encounters compared with abnormal findings in 46/82 (56%) of the A completed studies. Seventy-one percent (15/21) of the R-rated studies were performed for murmur evaluation.
Topics: Child; Humans; Retrospective Studies; Cardiology; Heart Murmurs; Telemedicine; Echocardiography
PubMed: 35962201
DOI: 10.1007/s00246-022-02985-y -
Medicine Aug 2022We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit...
BACKGROUND
We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis.
METHODS
Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 ± 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging.
RESULTS
As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls.
CONCLUSION
This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk.
Topics: Adult; Case-Control Studies; Diastole; Heart Murmurs; Humans; Middle Aged; Mutation; Polycythemia; Ventricular Dysfunction, Left; Ventricular Function, Left
PubMed: 35960118
DOI: 10.1097/MD.0000000000029881 -
Journal of Cardiology Cases Jul 2022Infective endocarditis (IE) is not a common disease, but it remains a serious condition. Antineutrophil cytoplasmic antibodies (ANCA) are often positive in IE, and...
UNLABELLED
Infective endocarditis (IE) is not a common disease, but it remains a serious condition. Antineutrophil cytoplasmic antibodies (ANCA) are often positive in IE, and discrimination between IE and ANCA-associated vasculitis is important because misdirected selection of therapy can lead to catastrophic consequences. We report a case of IE mimicking ANCA-associated vasculitis in which we were able to make a correct diagnosis and perform treatment. This case suggests that it is important to consider IE as a differential diagnosis in ANCA-positive patients.
LEARNING OBJECTIVE
Antineutrophil cytoplasmic antibodies (ANCA) are associated with primary systemic vasculitis. However, ANCA have also been described in other conditions and infective endocarditis (IE) was considered an important cause of ANCA.Discrimination between IE and ANCA-associated vasculitis is important, although it is sometimes difficult. We report a case of IE mimicking ANCA-associated vasculitis. ANCA-positive patients with nonspecific symptoms should be suspected of having IE, checked for heart murmurs, and tested by echocardiography and blood cultures.
PubMed: 35923533
DOI: 10.1016/j.jccase.2022.02.001