Sociotechnical Intervention for Improved Delivery of Preventive Cardiovascular Care to Rural Communities: Participatory Design Approach.

BACKGROUND: Clinical practice guidelines recommend antiplatelet and statin therapies as well as blood pressure control and tobacco cessation for secondary prevention in patients with established atherosclerotic cardiovascular diseases (ASCVDs). However, these strategies for risk modification are underused, especially in rural communities. Moreover, resources to support the delivery of preventive care to rural patients are fewer than those for their urban counterparts. Transformative interventions for the delivery of tailored preventive cardiovascular care to rural patients are needed. OBJECTIVE: A multidisciplinary team developed a rural-specific, team-based model of care intervention assisted by clinical decision support (CDS) technology using participatory design in a sociotechnical conceptual framework. The model of care intervention included redesigned workflows and a novel CDS technology for the coordination and delivery of guideline recommendations by primary care teams in a rural clinic. METHODS: The design of the model of care intervention comprised 3 phases: problem identification, experimentation, and testing. Input from team members (n=35) required 150 hours, including observations of clinical encounters, provider workshops, and interviews with patients and health care professionals. The intervention was prototyped, iteratively refined, and tested with user feedback. In a 3-month pilot trial, 369 patients with ASCVDs were randomized into the control or intervention arm. RESULTS: New workflows and a novel CDS tool were created to identify patients with ASCVDs who had gaps in preventive care and assign the right care team member for delivery of tailored recommendations. During the pilot, the intervention prototype was iteratively refined and tested. The pilot demonstrated feasibility for successful implementation of the sociotechnical intervention as the proportion of patients who had encounters with advanced practice providers (nurse practitioners and physician assistants), pharmacists, or tobacco cessation coaches for the delivery of guideline recommendations in the intervention arm was greater than that in the control arm. CONCLUSIONS: Participatory design and a sociotechnical conceptual framework enabled the development of a rural-specific, team-based model of care intervention assisted by CDS technology for the transformation of preventive health care delivery for ASCVDs.

Natural language processing for identification of hypertrophic cardiomyopathy patients from cardiac magnetic resonance reports.

BACKGROUND: Cardiac magnetic resonance (CMR) imaging is important for diagnosis and risk stratification of hypertrophic cardiomyopathy (HCM) patients. However, collection of information from large numbers of CMR reports by manual review is time-consuming, error-prone and costly. Natural language processing (NLP) is an artificial intelligence method for automated extraction of information from narrative text including text in CMR reports in electronic health records (EHR). Our objective was to assess whether NLP can accurately extract diagnosis of HCM from CMR reports. METHODS: An NLP system with two tiers was developed for information extraction from narrative text in CMR reports; the first tier extracted information regarding HCM diagnosis while the second extracted categorical and numeric concepts for HCM classification. We randomly allocated 200 HCM patients with CMR reports from 2004 to 2018 into training (100 patients with 185 CMR reports) and testing sets (100 patients with 206 reports). RESULTS: NLP algorithms demonstrated very high performance compared to manual annotation. The algorithm to extract HCM diagnosis had accuracy of 0.99. The accuracy for categorical concepts included HCM morphologic subtype 0.99, systolic anterior motion of the mitral valve 0.96, mitral regurgitation 0.93, left ventricular (LV) obstruction 0.94, location of obstruction 0.92, apical pouch 0.98, LV delayed enhancement 0.93, left atrial enlargement 0.99 and right atrial enlargement 0.98. Accuracy for numeric concepts included maximal LV wall thickness 0.96, LV mass 0.99, LV mass index 0.98, LV ejection fraction 0.98 and right ventricular ejection fraction 0.99. CONCLUSIONS: NLP identified and classified HCM from CMR narrative text reports with very high performance.

Conversion of left atrial volume to diameter for automated estimation of sudden cardiac death risk in hypertrophic cardiomyopathy.

BACKGROUND: A subset of patients with hypertrophic cardiomyopathy (HCM) is at high risk of sudden cardiac death (SCD). Practice guidelines endorse use of a risk calculator, which requires entry of left atrial (LA) diameter. However, American Society of Echocardiography (ASE) guidelines recommend the use of LA volume index (LAVI) for routine quantification of LA size. The aims of this study were to (a) develop a model to estimate LA diameter from LAVI and (b) evaluate whether substitution of measured LA diameter by estimated LA diameter derived from LAVI reclassifies HCM-SCD risk. METHODS: The study cohort was comprised of 500 randomly selected HCM patients who underwent transthoracic echocardiography (TTE). LA diameter and LAVI were measured offline using digital clips from TTE. Linear regression models were developed to estimate LA diameter from LAVI. A European Society of Cardiology endorsed equation estimated SCD risk, which was measured using LA diameter and estimated LA diameter derived from LAVI. RESULTS: The mean LAVI was 48.5 ± 18.8 mL/m2 . The derived LA diameter was 45.1 mm (SD: 5.5 mm), similar to the measured LA diameter (45.1 mm, SD: 7.1 mm). Median SCD risk at 5 years estimated by measured LA diameter was 2.22% (interquartile range (IQR): 1.39, 3.56), while median risk calculated by estimated LA diameter was 2.18% (IQR: 1.44, 3.52). 476/500 (95%) patients maintained the same risk classification regardless of whether the measured or estimated LA diameter was used. CONCLUSIONS: Substitution of measured LA diameter by estimated LA diameter in the HCM-SCD calculator did not reclassify risk.

Burden of hospitalization in clinically diagnosed peripheral artery disease: A community-based study.

The burden and predictors of hospitalization over time in community-based patients with peripheral artery disease (PAD) have not been established. This study evaluates the frequency, reasons and predictors of hospitalization over time in community-based patients with PAD. We assembled an inception cohort of 1798 PAD cases from Olmsted County, MN, USA (mean age 71.2 years, 44% female) from 1 January 1998 through 31 December 2011 who were followed until 2014. Two age- and sex-matched controls ( n = 3596) were identified for each case. ICD-9 codes were used to ascertain the primary reasons for hospitalization. Patients were censored at death or last follow-up. The most frequent reasons for hospitalization were non-cardiovascular: 68% of 8706 hospitalizations in cases and 78% of 8005 hospitalizations in controls. A total of 1533 (85%) cases and 2286 (64%) controls ( p < 0.001) were hospitalized at least once; 1262 (70%) cases and 1588 (44%) controls ( p < 0.001) ≥ two times. In adjusted models, age, prior hospitalization and comorbid conditions were independently associated with increased risk of recurrent hospitalizations in both groups. In cases, severe PAD (ankle-brachial index < 0.5) (HR: 1.25; 95% CI: 1.15, 1.36) and poorly compressible arteries (HR: 1.26; 95% CI: 1.16, 1.38) were each associated with increased risk for recurrent hospitalization. We demonstrate an increased rate of hospitalization in community-based patients with PAD and identify predictors of recurrent hospitalizations. These observations may inform strategies to reduce the burden of hospitalization of PAD patients.

Mining peripheral arterial disease cases from narrative clinical notes using natural language processing.

OBJECTIVE: Lower extremity peripheral arterial disease (PAD) is highly prevalent and affects millions of individuals worldwide. We developed a natural language processing (NLP) system for automated ascertainment of PAD cases from clinical narrative notes and compared the performance of the NLP algorithm with billing code algorithms, using ankle-brachial index test results as the gold standard. METHODS: We compared the performance of the NLP algorithm to (1) results of gold standard ankle-brachial index; (2) previously validated algorithms based on relevant International Classification of Diseases, Ninth Revision diagnostic codes (simple model); and (3) a combination of International Classification of Diseases, Ninth Revision codes with procedural codes (full model). A dataset of 1569 patients with PAD and controls was randomly divided into training (n = 935) and testing (n = 634) subsets. RESULTS: We iteratively refined the NLP algorithm in the training set including narrative note sections, note types, and service types, to maximize its accuracy. In the testing dataset, when compared with both simple and full models, the NLP algorithm had better accuracy (NLP, 91.8%; full model, 81.8%; simple model, 83%; P < .001), positive predictive value (NLP, 92.9%; full model, 74.3%; simple model, 79.9%; P < .001), and specificity (NLP, 92.5%; full model, 64.2%; simple model, 75.9%; P < .001). CONCLUSIONS: A knowledge-driven NLP algorithm for automatic ascertainment of PAD cases from clinical notes had greater accuracy than billing code algorithms. Our findings highlight the potential of NLP tools for rapid and efficient ascertainment of PAD cases from electronic health records to facilitate clinical investigation and eventually improve care by clinical decision support.

Stress echocardiography: what is new and how does it compare with myocardial perfusion imaging and other modalities?

Cardiovascular disease is a leading cause of morbidity and mortality, and noninvasive strategies to diagnose and risk stratify patients remain paramount in the evaluative process. Stress echocardiography is a well-established, versatile, real-time imaging modality with advantages including lack of radiation exposure, portability, and affordability. Innovative techniques in stress echocardiography include myocardial contrast echocardiography, deformation imaging, three-dimensional (3D) echocardiography, and assessment of coronary flow reserve. Myocardial perfusion imaging with single-photon emission computed tomography (SPECT) or positron emission tomography (PET) are imaging alternatives, and stress cardiac magnetic resonance imaging and coronary computed tomography (CT) angiography, including CT perfusion imaging, are emerging as newer approaches. This review will discuss recent and upcoming developments in the field of stress testing, with an emphasis on stress echocardiography while highlighting comparisons with other modalities.

Prognostic Significance of Elevated Left Ventricular Filling Pressures with Exercise: Insights from a Cohort of 14,338 Patients.

BACKGROUND: Exercise echocardiography can assess for cardiovascular causes of dyspnea other than coronary artery disease. However, the prevalence and prognostic significance of elevated left ventricular (LV) filling pressures with exercise is understudied. METHODS: We evaluated 14,338 patients referred for maximal symptom-limited treadmill echocardiography. In addition to assessment of LV regional wall motion abnormalities (RWMAs), we measured patients' early diastolic mitral inflow (E), septal mitral annulus relaxation (e'), and peak tricuspid regurgitation velocity before and immediately after exercise. RESULTS: Over a mean follow-up of 3.3 ± 3.4 years, patients with E/e' ≥15 with exercise (n = 1,323; 9.2%) had lower exercise capacity (7.3 ± 2.1 vs 9.1 ± 2.4 metabolic equivalents, P < .0001) and were more likely to have resting or inducible RWMAs (38% vs 18%, P < .0001). Approximately 6% (n = 837) had elevated LV filling pressures without RWMAs. Patients with a poststress E/e' ≥15 had a 2.71-fold increased mortality rate (2.28-3.21, P < .0001) compared with those with poststress E/e' ≤ 8. Those with an E/e' of 9 to 14, while at lower risk than the E/e' ≥15 cohort (hazard ratio [HR] = 0.58 [0.48-0.69]; P < .0001), had higher risk than if E/e' ≤8 (HR = 1.56 [1.37-1.78], P < .0001). On multivariable analysis, adjusting for age, sex, exercise capacity, LV ejection fraction, and presence of pulmonary hypertension with stress, patients with E/e' ≥15 had a 1.39-fold (95% CI, 1.18-1.65, P < .0001) increased risk of all-cause mortality compared with patients without elevated LV filling pressures. Compared with patients with E/e' ≤ 15 after exercise, patients with E/e' ≤15 at rest but elevated after exercise had a higher risk of cardiovascular death (HR = 8.99 [4.7-17.3], P < .0001). CONCLUSION: Patients with elevated LV filling pressures are at increased risk of death, irrespective of myocardial ischemia or LV systolic dysfunction. These findings support the routine incorporation of LV filling pressure assessment, both before and immediately following stress, into the evaluation of patients referred for exercise echocardiography.

Sex Differences in Aging-related Myocardial Stiffening Quantitatively Measured with MR Elastography.

Purpose To investigate the feasibility of using quantitative MR elastography (MRE) to characterize the influence of aging and sex on left ventricular (LV) shear stiffness. Materials and Methods In this prospective study, LV myocardial shear stiffness was measured in 109 healthy volunteers (age range: 18-84 years; mean age, 40 years ± 18 [SD]; 57 women, 52 men) enrolled between November 2018 and September 2019, using a 5-minute MRE acquisition added to a clinical MRI protocol. Linear regression models were used to estimate the association of cardiac MRI and MRE characteristics with age and sex; models were also fit to assess potential age-sex interaction. Results Myocardial shear stiffness significantly increased with age in female (age slope = 0.03 kPa/year ± 0.01, P = .009) but not male (age slope = 0.008 kPa/year ± 0.009, P = .38) volunteers. LV ejection fraction (LVEF) increased significantly with age in female volunteers (0.23% ± 0.08 per year, P = .005). LV end-systolic volume (LVESV) decreased with age in female volunteers (-0.20 mL/m2 ± 0.07, P = .003). MRI parameters, including T1, strain, and LV mass, did not demonstrate this interaction (P > .05). Myocardial shear stiffness was not significantly correlated with LVEF, LV stroke volume, body mass index, or any MRI strain metrics (P > .05) but showed significant correlations with LV end-diastolic volume/body surface area (BSA) (slope = -3 kPa/mL/m2 ± 1, P = .004, r2 = 0.08) and LVESV/BSA (-1.6 kPa/mL/m2 ± 0.5, P = .003, r2 = 0.08). Conclusion This study demonstrates that female, but not male, individuals experience disproportionate LV stiffening with natural aging, and these changes can be noninvasively measured with MRE. Keywords: Cardiac, Elastography, Biological Effects, Experimental Investigations, Sexual Dimorphisms, MR Elastography, Myocardial Shear Stiffness, Quantitative Stiffness Imaging, Aging Heart, Myocardial Biomechanics, Cardiac MRE Supplemental material is available for this article. Published under a CC BY 4.0 license.

Artificial Intelligence of Arterial Doppler Waveforms to Predict Major Adverse Outcomes Among Patients Evaluated for Peripheral Artery Disease.

BACKGROUND: Patients with peripheral artery disease are at increased risk for major adverse cardiac events, major adverse limb events, and all-cause death. Developing tools capable of identifying those patients with peripheral artery disease at greatest risk for major adverse events is the first step for outcome prevention. This study aimed to determine whether computer-assisted analysis of a resting Doppler waveform using deep neural networks can accurately identify patients with peripheral artery disease at greatest risk for adverse outcome events. METHODS AND RESULTS: Consecutive patients (April 1, 2015, to December 31, 2020) undergoing ankle-brachial index testing were included. Patients were randomly allocated to training, validation, and testing subsets (60%/20%/20%). Deep neural networks were trained on resting posterior tibial arterial Doppler waveforms to predict major adverse cardiac events, major adverse limb events, and all-cause death at 5 years. Patients were then analyzed in groups based on the quartiles of each prediction score in the training set. Among 11 384 total patients, 10 437 patients met study inclusion criteria (mean age, 65.8±14.8 years; 40.6% women). The test subset included 2084 patients. During 5 years of follow-up, there were 447 deaths, 585 major adverse cardiac events, and 161 MALE events. After adjusting for age, sex, and Charlson comorbidity index, deep neural network analysis of the posterior tibial artery waveform provided independent prediction of death (hazard ratio [HR], 2.44 [95% CI, 1.78-3.34]), major adverse cardiac events (HR, 1.97 [95% CI, 1.49-2.61]), and major adverse limb events (HR, 11.03 [95% CI, 5.43-22.39]) at 5 years. CONCLUSIONS: An artificial intelligence-enabled analysis of Doppler arterial waveforms enables identification of major adverse outcomes among patients with peripheral artery disease, which may promote early adoption and adherence of risk factor modification.

Near Real-time Natural Language Processing for the Extraction of Abdominal Aortic Aneurysm Diagnoses From Radiology Reports: Algorithm Development and Validation Study.

BACKGROUND: Management of abdominal aortic aneurysms (AAAs) requires serial imaging surveillance to evaluate the aneurysm dimension. Natural language processing (NLP) has been previously developed to retrospectively identify patients with AAA from electronic health records (EHRs). However, there are no reported studies that use NLP to identify patients with AAA in near real-time from radiology reports. OBJECTIVE: This study aims to develop and validate a rule-based NLP algorithm for near real-time automatic extraction of AAA diagnosis from radiology reports for case identification. METHODS: The AAA-NLP algorithm was developed and deployed to an EHR big data infrastructure for near real-time processing of radiology reports from May 1, 2019, to September 2020. NLP extracted named entities for AAA case identification and classified subjects as cases and controls. The reference standard to assess algorithm performance was a manual review of processed radiology reports by trained physicians following standardized criteria. Reviewers were blinded to the diagnosis of each subject. The AAA-NLP algorithm was refined in 3 successive iterations. For each iteration, the AAA-NLP algorithm was modified based on performance compared to the reference standard. RESULTS: A total of 360 reports were reviewed, of which 120 radiology reports were randomly selected for each iteration. At each iteration, the AAA-NLP algorithm performance improved. The algorithm identified AAA cases in near real-time with high positive predictive value (0.98), sensitivity (0.95), specificity (0.98), F1 score (0.97), and accuracy (0.97). CONCLUSIONS: Implementation of NLP for accurate identification of AAA cases from radiology reports with high performance in near real time is feasible. This NLP technique will support automated input for patient care and clinical decision support tools for the management of patients with AAA. .

Prevalence, sex differences, and implications of pulmonary hypertension in patients with apical hypertrophic cardiomyopathy.

Introduction: Apical hypertrophic cardiomyopathy (ApHCM) is a subtype of hypertrophic cardiomyopathy (HCM) that affects up to 25% of Asian patients and is not as well understood in non-Asian patients. Although ApHCM has been considered a more "benign" variant, it is associated with increased risk of atrial and ventricular arrhythmias, apical thrombi, stroke, and progressive heart failure. The occurrence of pulmonary hypertension (PH) in ApHCM, due to elevated pressures on the left side of the heart, has been documented. However, the exact prevalence of PH in ApHCM and sex differences remain uncertain. Methods: We sought to evaluate the prevalence, risk associations, and sex differences in elevated pulmonary pressures in the largest cohort of patients with ApHCM at a single tertiary center. A total of 542 patients diagnosed with ApHCM were identified using ICD codes and clinical notes searches, confirmed by cross-referencing with cardiac MRI reports extracted through Natural Language Processing and through manual evaluation of patient charts and imaging records. Results: In 414 patients, echocardiogram measurements of pulmonary artery systolic pressure (PASP) were obtained at the time of diagnosis. The mean age was 59.4 ± 16.6 years, with 181 (44%) being females. The mean PASP was 38 ± 12 mmHg in females vs. 33 ± 9 mmHg in males (p < 0.0001). PH as defined by a PASP value of > 36 mmHg was present in 140/414 (34%) patients, with a predominance in females [79/181 (44%)] vs. males [61/233 (26%), p < 0.0001]. Female sex, atrial fibrillation, diagnosis of congestive heart failure, and elevated filling pressures on echocardiogram remained significantly associated with PH (PASP > 36 mmHg) in multivariable modeling. PH, when present, was independently associated with mortality [hazard ratio 1.63, 95% CI (1.05-2.53), p = 0.028] and symptoms [odds ratio 2.28 (1.40, 3.71), p < 0.001]. Conclusion: PH was present in 34% of patients with ApHCM at diagnosis, with female sex predominance. PH in ApHCM was associated with symptoms and increased mortality.

Tandem deep learning and logistic regression models to optimize hypertrophic cardiomyopathy detection in routine clinical practice.

Background: An electrocardiogram (ECG)-based artificial intelligence (AI) algorithm has shown good performance in detecting hypertrophic cardiomyopathy (HCM). However, its application in routine clinical practice may be challenging owing to the low disease prevalence and potentially high false-positive rates. Objective: Identify clinical characteristics associated with true- and false-positive HCM AI-ECG results to improve its clinical application. Methods: We reviewed the records of the 200 patients with highest HCM AI-ECG scores in January 2021 at our institution. Logistic regression was used to create a clinical variable-based "Candidacy for HCM Detection (HCM-DETECT)" score, differentiating true-positive from false-positive AI-ECG results. We validated the HCM-DETECT score in an independent cohort of 200 patients with the highest AI-ECG scores from January 2022. Results: In the 2021 cohort (median age 71 [interquartile range 58-80] years, 48% female), the rates of true-positive, false-positive, and indeterminate AI-ECG results for HCM detection were 36%, 48%, and 16%, respectively. In the 2022 cohort, the rates were 26%, 47%, and 27%, respectively. The HCM-DETECT score included age, coronary artery disease, prior pacemaker, and prior cardiac valve surgery, and had an area under the receiver operating characteristic curve of 0.81 (95% confidence interval 0.73-0.87) for differentiating true- vs false-positive AI results. When the 2022 cohort was limited to HCM detection candidates identified with the HCM-DETECT score, the false-positive AI-ECG rate was reduced from 47% to 13.5%. Conclusion: Application of a clinical score (HCM-DETECT) in tandem with an AI-ECG model improved HCM detection yield, reducing the false-positive rate of AI-ECG more than 3-fold.

Deep Neural Network for Cardiac Magnetic Resonance Image Segmentation.

The analysis and interpretation of cardiac magnetic resonance (CMR) images are often time-consuming. The automated segmentation of cardiac structures can reduce the time required for image analysis. Spatial similarities between different CMR image types were leveraged to jointly segment multiple sequences using a segmentation model termed a multi-image type UNet (MI-UNet). This model was developed from 72 exams (46% female, mean age 63 ± 11 years) performed on patients with hypertrophic cardiomyopathy. The MI-UNet for steady-state free precession (SSFP) images achieved a superior Dice similarity coefficient (DSC) of 0.92 ± 0.06 compared to 0.87 ± 0.08 for a single-image type UNet (p < 0.001). The MI-UNet for late gadolinium enhancement (LGE) images also had a superior DSC of 0.86 ± 0.11 compared to 0.78 ± 0.11 for a single-image type UNet (p = 0.001). The difference across image types was most evident for the left ventricular myocardium in SSFP images and for both the left ventricular cavity and the left ventricular myocardium in LGE images. For the right ventricle, there were no differences in DCS when comparing the MI-UNet with single-image type UNets. The joint segmentation of multiple image types increases segmentation accuracy for CMR images of the left ventricle compared to single-image models. In clinical practice, the MI-UNet model may expedite the analysis and interpretation of CMR images of multiple types.

NATURAL LANGUAGE PROCESSING BASED MACHINE LEARNING MODEL USING CARDIAC MRI REPORTS TO IDENTIFY HYPERTROPHIC CARDIOMYOPATHY PATIENTS.

Hypertrophic Cardiomyopathy (HCM) is the most common genetic heart disease in the US and is known to cause sudden death (SCD) in young adults. While significant advancements have been made in HCM diagnosis and management, there is a need to identify HCM cases from electronic health record (EHR) data to develop automated tools based on natural language processing guided machine learning (ML) models for accurate HCM case identification to improve management and reduce adverse outcomes of HCM patients. Cardiac Magnetic Resonance (CMR) Imaging, plays a significant role in HCM diagnosis and risk stratification. CMR reports, generated by clinician annotation, offer rich data in the form of cardiac measurements as well as narratives describing interpretation and phenotypic description. The purpose of this study is to develop an NLP-based interpretable model utilizing impressions extracted from CMR reports to automatically identify HCM patients. CMR reports of patients with suspected HCM diagnosis between the years 1995 to 2019 were used in this study. Patients were classified into three categories of yes HCM, no HCM and, possible HCM. A random forest (RF) model was developed to predict the performance of both CMR measurements and impression features to identify HCM patients. The RF model yielded an accuracy of 86% (608 features) and 85% (30 features). These results offer promise for accurate identification of HCM patients using CMR reports from EHR for efficient clinical management transforming health care delivery for these patients.

Artificial Intelligence (AI)-Empowered Echocardiography Interpretation: A State-of-the-Art Review.

Echocardiography (Echo), a widely available, noninvasive, and portable bedside imaging tool, is the most frequently used imaging modality in assessing cardiac anatomy and function in clinical practice. On the other hand, its operator dependability introduces variability in image acquisition, measurements, and interpretation. To reduce these variabilities, there is an increasing demand for an operator- and interpreter-independent Echo system empowered with artificial intelligence (AI), which has been incorporated into diverse areas of clinical medicine. Recent advances in AI applications in computer vision have enabled us to identify conceptual and complex imaging features with the self-learning ability of AI models and efficient parallel computing power. This has resulted in vast opportunities such as providing AI models that are robust to variations with generalizability for instantaneous image quality control, aiding in the acquisition of optimal images and diagnosis of complex diseases, and improving the clinical workflow of cardiac ultrasound. In this review, we provide a state-of-the art overview of AI-empowered Echo applications in cardiology and future trends for AI-powered Echo technology that standardize measurements, aid physicians in diagnosing cardiac diseases, optimize Echo workflow in clinics, and ultimately, reduce healthcare costs.

Detection of hypertrophic cardiomyopathy by an artificial intelligence electrocardiogram in children and adolescents.

BACKGROUND: There is no established screening approach for hypertrophic cardiomyopathy (HCM). We recently developed an artificial intelligence (AI) model for the detection of HCM based on the 12­lead electrocardiogram (AI-ECG) in adults. Here, we aimed to validate this approach of ECG-based HCM detection in pediatric patients (age ≤ 18 years). METHODS: We identified a cohort of 300 children and adolescents with HCM (mean age 12.5 ± 4.6 years, male 68%) who had an ECG and echocardiogram at our institution. Patients were age- and sex-matched to 18,439 non-HCM controls. Diagnostic performance of the AI-ECG model for the detection of HCM was estimated using the previously identified optimal diagnostic threshold of 11% (the probability output derived by the model above which an ECG is considered to belong to an HCM patient). RESULTS: Mean AI-ECG probabilities of HCM were 92% and 5% in the case and control groups, respectively. The area under the receiver operating characteristic curve (AUC) of the AI-ECG model for HCM detection was 0.98 (95% CI 0.98-0.99) with corresponding sensitivity 92% and specificity 95%. The positive and negative predictive values were 22% and 99%, respectively. The model performed similarly in males and females and in genotype-positive and genotype-negative HCM patients. Performance tended to be superior with increasing age. In the age subgroup <5 years, the test's AUC was 0.93. In comparison, the AUC was 0.99 in the age subgroup 15-18 years. CONCLUSIONS: A deep-learning, AI model can detect pediatric HCM with high accuracy from the standard 12­lead ECG.

Natural language processing of implantable cardioverter-defibrillator reports in hypertrophic cardiomyopathy: A paradigm for longitudinal device follow-up.

BACKGROUND: The follow-up of implantable cardioverter-defibrillators (ICDs) generates large amounts of valuable structured and unstructured data embedded in device interrogation reports. OBJECTIVE: We aimed to build a natural language processing (NLP) model for automated capture of ICD-recorded events from device interrogation reports using a single-center cohort of patients with hypertrophic cardiomyopathy (HCM). METHODS: A total of 687 ICD interrogation reports from 247 HCM patients were included. Using a derivation set of 480 reports, we developed a rule-based NLP algorithm based on unstructured (free-text) data from the interpretation field of the ICD reports to identify sustained atrial and ventricular arrhythmias, and ICD therapies. A separate model based on structured numerical tabulated data was also developed. Both models were tested in a separate set of the 207 remaining ICD reports. Diagnostic performance was determined in reference to arrhythmia and ICD therapy annotations generated by expert manual review of the same reports. RESULTS: The NLP system achieved sensitivity 0.98 and 0.99, and F1-scores 0.98 and 0.92 for arrhythmia and ICD therapy events, respectively. In contrast, the performance of the structured data model was significantly lower with sensitivity 0.33 and 0.76, and F1-scores 0.45 and 0.78, for arrhythmia and ICD therapy events, respectively. CONCLUSION: An automated NLP system can capture arrhythmia events and ICD therapies from unstructured device interrogation reports with high accuracy in HCM. These findings demonstrate the feasibility of an NLP paradigm for the extraction of data for clinical care and research from ICD reports embedded in the electronic health record.

Usability of a Digital Registry to Promote Secondary Prevention for Peripheral Artery Disease Patients.

OBJECTIVE: To evaluate usability of a quality improvement tool that promotes guideline-based care for patients with peripheral arterial disease (PAD). PATIENTS AND METHODS: The study was conducted from July 19, 2018, to August 21, 2019. We compared the usability of a PAD cohort knowledge solution (CKS) with standard management supported by an electronic health record (EHR). Two scenarios were developed for usability evaluation; the first for the PAD-CKS while the second evaluated standard EHR workflow. Providers were asked to provide opinions about the PAD-CKS tool and to generate a System Usability Scale (SUS) score. Metrics analyzed included time required, number of mouse clicks, and number of keystrokes. RESULTS: Usability evaluations were completed by 11 providers. SUS for the PAD-CKS was excellent at 89.6. Time required to complete 21 tasks in the CKS was 4 minutes compared with 12 minutes for standard EHR workflow (median, P = .002). Completion of CKS tasks required 34 clicks compared with 148 clicks for the EHR (median, P = .002). Keystrokes for CKS task completion was 8 compared with 72 for EHR (median, P = .004). Providers indicated that overall they found the tool easy to use and the PAD mortality risk score useful. CONCLUSIONS: Usability evaluation of the PAD-CKS tool demonstrated time savings, a high SUS score, and a reduction of mouse clicks and keystrokes for task completion compared to standard workflow using the EHR. Provider feedback regarding the strengths and weaknesses also created opportunities for iterative improvement of the PAD-CKS tool.

Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.

Chronic Kidney Disease (CKD) represents a slowly progressive disorder that is typically silent until late stages, but early intervention can significantly delay its progression. We designed a portable and scalable electronic CKD phenotype to facilitate early disease recognition and empower large-scale observational and genetic studies of kidney traits. The algorithm uses a combination of rule-based and machine-learning methods to automatically place patients on the staging grid of albuminuria by glomerular filtration rate ("A-by-G" grid). We manually validated the algorithm by 451 chart reviews across three medical systems, demonstrating overall positive predictive value of 95% for CKD cases and 97% for healthy controls. Independent case-control validation using 2350 patient records demonstrated diagnostic specificity of 97% and sensitivity of 87%. Application of the phenotype to 1.3 million patients demonstrated that over 80% of CKD cases are undetected using ICD codes alone. We also demonstrated several large-scale applications of the phenotype, including identifying stage-specific kidney disease comorbidities, in silico estimation of kidney trait heritability in thousands of pedigrees reconstructed from medical records, and biobank-based multicenter genome-wide and phenome-wide association studies.

Hemodynamic Heterogeneity of Reduced Cardiac Reserve Unmasked by Volumetric Exercise Echocardiography.

BACKGROUND: Two-dimensional volumetric exercise stress echocardiography (ESE) provides an integrated view of left ventricular (LV) preload reserve through end-diastolic volume (EDV) and LV contractile reserve (LVCR) through end-systolic volume (ESV) changes. PURPOSE: To assess the dependence of cardiac reserve upon LVCR, EDV, and heart rate (HR) during ESE. METHODS: We prospectively performed semi-supine bicycle or treadmill ESE in 1344 patients (age 59.8 ± 11.4 years; ejection fraction = 63 ± 8%) referred for known or suspected coronary artery disease. All patients had negative ESE by wall motion criteria. EDV and ESV were measured by biplane Simpson rule with 2-dimensional echocardiography. Cardiac index reserve was identified by peak-rest value. LVCR was the stress-rest ratio of force (systolic blood pressure by cuff sphygmomanometer/ESV, abnormal values ≤2.0). Preload reserve was defined by an increase in EDV. Cardiac index was calculated as stroke volume index * HR (by EKG). HR reserve (stress/rest ratio) <1.85 identified chronotropic incompetence. RESULTS: Of the 1344 patients, 448 were in the lowest tertile of cardiac index reserve with stress. Of them, 303 (67.6%) achieved HR reserve <1.85; 252 (56.3%) had an abnormal LVCR and 341 (76.1%) a reduction of preload reserve, with 446 patients (99.6%) showing ≥1 abnormality. At binary logistic regression analysis, reduced preload reserve (odds ratio [OR]: 5.610; 95% confidence intervals [CI]: 4.025 to 7.821), chronotropic incompetence (OR: 3.923, 95% CI: 2.915 to 5.279), and abnormal LVCR (OR: 1.579; 95% CI: 1.105 to 2.259) were independently associated with lowest tertile of cardiac index reserve at peak stress. CONCLUSIONS: Heart rate assessment and volumetric echocardiography during ESE identify the heterogeneity of hemodynamic phenotypes of impaired chronotropic, preload or LVCR underlying a reduced cardiac reserve.