Circulation, Volume 146, Issue Suppl_1, Page A10137-A10137, November 8, 2022. Introduction:Clinical practice guidelines recommend regular chronic kidney disease (CKD) screening after a diagnosis of hypertension (HTN) or type 2 diabetes (T2DM). Annual monitoring of kidney function increases early detection of CKD and improves quality of life. However, disparities in neighborhood characteristics can impact access to routine care, including CKD screening.Hypothesis:We hypothesize area deprivation index (ADI), a national ranking of neighborhood sociodemographic disadvantage would predict annual CKD screening and CKD development among newly diagnosed HTN or T2DM patients.Methods:Electronic health records of patients (n=235,208) with an new HTN or T2DM diagnosis between 2015-2018 were abstracted using International Classification Codes. Patients were followed for three years to assess annual CKD screening (one estimated glomerular filtration rate and urinary albumin-to-creatine ratio) and CKD development (CKD or end stage renal disease). ADI ranks (1-100) were divided into quintiles (Q1=least deprived, Q5=most deprived). Multivariable logistic regression models evaluated associations between ADI quintiles with CKD screening and CKD development.Results:Most patients were White (57%) females (55%) with solely HTN (65%). Few with only T2DM (9%) and 26% had both. Screening was highest for patients who developed HTN and T2DM during the study (44%) compared to only T2DM (38%) or HTN (4%). CKD developed for 9% of patients with HTN and T2DM, but 0% for only HTN or T2DM. Compared to the least deprived patients, the most deprived were less likely to not be screened in the first year of HTN or T2DM diagnosis (Odds Ratio (OR)= 0.77; 95% confidence interval (CI): 0.73, 0.80). The most deprived patients were more likely to develop CKD compared to the least deprived patents (OR=1.98, 95%CI: 1.75, 2.23).Conclusions:The most deprived patients were more likely to be screened annually and almost twice as likely to develop CKD compared to the least deprived. Although an increase in deprivation is associated with poor lifestyle choices which can lead to an increase in CKD, it’s possible early diagnosis is due to an increase in screening, thus leading to an increase in quality of life through monitoring kidney function.
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Abstract 9447: The Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations Study
Circulation, Volume 146, Issue Suppl_1, Page A9447-A9447, November 8, 2022. Introduction:Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF) among patients aged > 60 years. While the V122I variant that is associated with hereditary ATTR-CM is present in 3.4% of self-identified Black individuals in the US (or 1.5 million people), the phenotypic penetrance of this allele remains incompletely defined owing to age-dependent expression and limited methods for disease ascertainment.Methods:The Screening for Cardiac Amyloidosis with Nuclear Imaging in Minority Populations (SCAN-MP) study is a currently accruing multisite cohort designed to determine the prevalence of ATTR-CM using Tc-99m-Pyrophosphate imaging in older (age > 60 years) Black and Hispanic individuals with HF.TTRgenotype is determined by 4-exon targeted PCR, while functional, biochemical, and echocardiographic testing is performed. Data are presented here as an interim analysis performed using Kruskal-Wallis testing for the first 240 self-identified Black participants.Results:The prevalence of V122I was 6.7% (n=16 carriers of whom 7 had ATTR-CM), yielding a phenotypic penetrance of 44% (95% CI 20%, 70%) at a median age of 82 (IQR 74, 85) years. Allele carriers with ATTR-CM (Group 3) were older and more likely male, with lower 6-minute walk distance and LVEF, when compared to carriers without ATTR-CM (Group 2, Table) or wild-type, non-amyloid HF controls (Group 1). Other functional, biochemical, and echocardiographic parameters were predictably different between Group 3 and the other groups but similar between Groups 1 and 2 except for prealbumin levels (Group 1: 25 mg/dl vs. Group 2: 20.5 mg/dl, p < 0.05).Conclusion:The clinical penetrance of V122I among elderly Black individuals with HF and a median age of 82 years was 44%, suggesting that genotype alone is insufficient to infer ATTR-CM as the cause of HF in this clinical context. Prealbumin concentration may be useful to identify ATTR-CM in V122I carriers.
Abstract 11554: Biochemical and Molecular Newborn Screening for Familial Hypercholesterolemia
Circulation, Volume 146, Issue Suppl_1, Page A11554-A11554, November 8, 2022. Introduction:Familial Hypercholesterolemia (FH) is a common genetic disorder resulting in elevated low-density lipoprotein cholesterol (LDL-C) causing premature atherosclerosis. Despite guidelines, universal screening rates remain low. Newborn screening could increase FH diagnostic rates.Hypothesis:Biochemical newborn screening for LDL-C, total cholesterol (TC), and apolipoprotein B (apoB) followed by selective molecular testing identifies pathogenic and likely pathogenic variants causing FH.Methods:De-identified, residual newborn screening bloodspots collected for routine screening at 24-48 hours of life were analyzed for LDL-C, TC, and apoB. Values are expressed as multiples of median (MoM). Mahalanobis distance, measuring how far MoM values differed positively from 1, was computed. Samples with the most extreme Mahalanobis distance were selected for molecular testing (panel includesLDLR,APOB,PCSK9,LDLRAP1,APOE,STAP1,LIPA,ABCG5, andABCG8).Results:Distributions of apoB, TC, and LDL-C from 5,248 samples are shown below (figure). ApoB followed a Gamma distribution; TC and LDL-C followed non-normal but symmetric distributions. ApoB and LDL-C accounted for 93% of variance among biomarkers. Of the first 2500 samples, 192 samples were selected for molecular testing; a pathogenic variant for monogenic FH was detected in 1 sample and risk factors for polygenic FH in 4 samples (table below).Conclusions:Pathogenic or likely pathogenic variants for FH were identified with an incidence of 1 in 500 in the first 2500 newborn specimens tested. Further study will determine if this two-tiered screening strategy adequately detects FH in newborns.
Abstract 14675: High-Throughput CRISPR Screening Links CAD Loci to Endothelial Cell Programs and Causal Pathways
Circulation, Volume 146, Issue Suppl_1, Page A14675-A14675, November 8, 2022. Introduction:Genome-wide association studies (GWAS) have discovered >300 associations for CAD. Few loci are functionally characterized and may represent new mechanisms of disease.Hypothesis:Can a high-throughput, unbiased transcriptional screen for all candidate GWAS genes identify the causal genes and biological pathways at CAD GWAS loci in endothelial cells (ECs)?Methods:We applied CRISPRi-Perturb-seq to knock down the expression of all genes within 500 Kb of coronary artery disease GWAS loci (2,300 genes in total) and measure their effects on the transcriptome using single-cell RNA-seq.Results:We identified 60 programs of co-expressed genes, which represent core cellular pathways (i.e. ribosome biogenesis) and EC-specific pathways such as flow response and angiogenesis. The EC-specific programs show the greatest contribution to CAD heritability. 6 EC-specific programs have the greatest number of CAD GWAS candidate genes. One of the EC-specific programs had genes regulated byKLF-transcription factors and was enriched for shear-stress response genes. The novel CAD candidate genes in this program included multiple known mediators of the cerebral cavernous malformation (CCM)-signaling complex. 9 known members of the CCM-signaling cascade and several potentially novel mediators of CAD clustered together in theKLFPerturb-seq topic. These included genetic variants in theCCM2,KLF4,RAC1, andHEG1loci as well as genes will a similar transcriptional profile but no prior connection to the CCM-signaling complex.Conclusions:High-throughput functional analysis of 2,300 genes proximal to CAD GWAS loci prioritized pathways—such as angiogenesis and EC migration—that are regulated by multiple risk SNPs. Our study identifies new genes that likely influence risk for CAD, identifies convergence of CAD genes into certain pathways in endothelial cells, and demonstrates a generalizable strategy to connect disease variants to functions.
Abstract 10105: Health Disparities in Cholesterol Screening Among Older Americans: Longitudinal Analysis of the Health and Retirement Study (2008-2018)
Circulation, Volume 146, Issue Suppl_1, Page A10105-A10105, November 8, 2022. Introduction:Hypercholesterolemia is often asymptomatic and requires cholesterol screening to be identified. Current guidelines recommend adults at low risk for cardiovascular disease (CVD) to receive cholesterol screening at least every 5 years with more frequent screenings in older adults and/or at higher CVD risk. Yet, currently, about 25% of Americans do not meet the every-5-year screening recommendations. While disparities in the prevention and treatment of hypercholesterolemia continue to rise, little is known regarding factors influencing cholesterol screening among older Americans in the past 10 years.Methods:This longitudinal analysis used data from the Health and Retirement Study (HRS). HRS is a nationally representative survey of older adults in the U.S. The current study focused on data collected from 2008 (Wave 9) to 2018 (Wave 14). Participants who passed away by 2019, ever had CVD or stroke, were under age 55 at baseline, had more than 3 waves of missing data in self-reported cholesterol screening, or any missing data in covariates were excluded from the current analysis. In total, 7643 participants were included. Meeting cholesterol screening recommendations was defined as those reporting more than two cholesterol screenings between waves 9-14. Poisson regression and logistic regression were used for data analysis.Results:Compared to Black, Indigenous, and People of Color (BIPOC), White older Americans were more likely to meet cholesterol screening recommendations (odds ratio= 1.60; p
Abstract 15026: The Use of Artificial Intelligence Guidance for Rheumatic Heart Disease Screening by Novices
Circulation, Volume 146, Issue Suppl_1, Page A15026-A15026, November 8, 2022. Introduction:A novel technology utilizing artificial intelligence (AI) to provide real-time image-acquisition guidance, enabling novices to obtain diagnostic echocardiographic (echo) images holds promise to expand the reach of echo screening for rheumatic heart disease (RHD). We evaluated the ability of non-experts to obtain diagnostic quality images in patients with RHD using AI guidance (Caption Health) with color Doppler.Methods:This study was performed in Kampala, Uganda at the Uganda Heart Institute. Nurses and nursing students with no prior echo experience underwent one-day training in the use of AI guidance, which included a 7-view screening protocol with 2D and color Doppler images. Following training, all participants scanned 8-10 patients using AI guidance, half RHD and half normal. The same patients were scanned by two expert sonographers without the use of AI guidance. Each echo was evaluated by a panel of 4 expert echocardiographers blinded to the identity of the scanner (novice/exert) and diagnosis of the patient to provide quality assessment including (1) diagnostic quality to determine presence/absence of RHD, (2) more detailed valvular assessment, and (3) ACEP score 1-5 for each view.Results:Thirty-six novice scanners scanned a total of 50 patients, 25 with RHD and 25 controls. A total of 462 echocardiogram studies were obtained, 351 obtained by non-experts using AI guidance and 111 obtained by expert sonographers without AI guidance. Preliminary analysis of 394 interpretations showed that 95% of non-expert studies were of diagnostic quality to assess for RHD and mitral valve disease (vs 100% by experts, p=0.03), but only 56% of non-expert studies were of diagnostic quality to assess aortic valve disease (vs 97% by experts, p
Abstract 10257: Diagnostic Yield of Screening and Associated Factors for Transthyretin Cardiac Amyloidosis in Severe Aortic Stenosis
Circulation, Volume 146, Issue Suppl_1, Page A10257-A10257, November 8, 2022. Introduction:Transthyretin cardiac amyloidosis (ATTR-CA) has been associated with severe aortic stenosis (AS), with some studies finding up to 20% of patients who undergo transcatheter aortic replacement (TAVR) have ATTR-CA. New therapies for ATTR-CA have brought significant interest in identifying patients at high risk for this disease. The purpose of this study was to prospectively evaluate the yield of universal testing for ATTR-CA in older patients with severe AS.Methods:All patients ≥ 70 years with severe, native, and degenerative AS seen in valve clinic for evaluation of TAVR were referred for technetium-99m pyrophosphate cardiac scintigraphy (PYP scan). Diagnosis was made via a combination of planar grade, heart to contralateral lung ratio, and single positron emission computed tomography/computed tomography. Patients with a positive PYP scan were referred for appropriate laboratory testing to rule out AL amyloidosis. Clinical and echocardiographic factors were correlated with the PYP result.Results:Over a 12-month period, 787 patients with severe AS were screened of which 543 met the inclusion criteria. Of these patients, 298 underwent a PYP scan with 232 not undergoing the scan for logistical and scheduling issues during the pandemic. The positivity rate was 4.3% (13/298). Patients with a positive PYP scan had higher rates of carpal tunnel syndrome (54% vs 14%, p -18%) (100% vs 69%, p=0.044), low stroke volume index (≤35 ml/m2) (92% vs 42%, p
Abstract 11770: Cost-Effectiveness Analysis of Coronary Artery Disease Screening in Patients With Breast Cancer
Circulation, Volume 146, Issue Suppl_1, Page A11770-A11770, November 8, 2022. Background:Association of cardiovascular disease with cancer is caused by an increased risk of coronary artery disease (CAD), in part attributable to the association of standard risk factors with both coronary disease and cancer. In addition to these drivers of accelerated plaque formation, treatment used in breast cancer therapy is associated with CAD.Purpose:Cancer patients require an individualised approach for managing CAD and there is an unmet need to define the benefit of CAD screening on outcomes in cancer survivors and the cost-effectiveness of this approach is unknown.Methods:A Markov model was assembled using three states; well, myocardial infarction and death. Base case scenario was a 55 year old female treated for breast cancer, followed up 10 years post treatment. Costs, utilities, and transition probabilities were derived from published literature. Costs are in 2021 AUD$ and calculated from a societal perspective. Costs and utilities were discounted at 3% per annum. Sensitivity analyses were performed on key inputs including transition probabilities of well state and MI, costs of CAD and screening test. Willing-to-pay threshold of AUD$50,000 was selected.Results:Screening cancer survivors for CAD dominated no screening, providing cost savings of $1916 and QALY savings of 5.9 QALYs per-patient. Major determinants were probabilities of MI, death and costs of screening and MI. There was no change in life expectancy.Conclusion:Screening for CAD provided an increase in long-term QALY and reduction in healthcare costs in breast cancer survivors at least 10 years post treatment.
Abstract 10253: Integrating Mental Health Screening Into a Health System for Measurement-Based Care of Patients With Peripheral Artery Disease
Circulation, Volume 146, Issue Suppl_1, Page A10253-A10253, November 8, 2022. Introduction:Multi-dimensional assessments of patient reported outcomes (PROs) are becoming increasingly important in optimizing patient-centered care for chronic conditions such as peripheral artery disease (PAD). We aimed to demonstrate the feasibility of a health system integrated workflow to incorporate mental health screenings into the outpatient PAD clinic workflow.Methods:In a large academic center, we administered three validated psychological assessments to consecutive outpatients between March 3, 2021 and July 7, 2021. Assessments were administered as part of an in-person patient navigation system (Yale PRO-QI) and was supported by online data collection. Assessments included the Patient Health Questionnaire-8 (PHQ-8) for depression, the Generalized Anxiety Disorder-7 (GAD-7) for anxiety, and the Perceived Stress Scale-4 (PSS-4) for stress. Validated cutoffs were used to screen for depression and anxiety ( >10 = depression or anxiety, respectively) and stress ( >6 = high stress).Results:There were 104 assessments collected for 98 participants with a mean age of 68.6+12.0 years old, 38.8% female, 86.7% White, 9.1% Black and 2.0% Asian or American Indian. The majority (72.5%) were seen for a routine follow-up visit. Two participants (2.0%) screened positive for generalized anxiety disorder. For depression, 12.2% screened positive. Almost half of all participants (47.9%) had higher levels of stress compared with a normative population. There were no statistically significant associations between the risk of positive screening and visit type.Conclusions:Measurement-based care metrics are becoming a standard best practice in routine clinical operations. Psychosocial screening instruments can be integrated in PAD outpatient care and highlight opportunities to improve integrated behavioral care pathways to provide the best care for this vulnerable population.
Abstract 11199: Disparities in Screening for Postpartum Depression – Insights From American Heart Association Research Goes Red Registry
Circulation, Volume 146, Issue Suppl_1, Page A11199-A11199, November 8, 2022. Introduction:Postpartum depression (PPD) affects 1 in 5 women in the United States and is associated with cardiovascular disease. Disparities in PPD screening have not been well studied. We investigated the level of self-reported screening, diagnosis of PPD, and disparities in screening.Methods:We utilized data from participants enrolled in the AHA Research Goes Red Registry, an online research platform powered by Verily, who responded to the Fertility and Pregnancy survey. Of the 3128 women who had responded as of May 2022, 311 participants were self-identified as postpartum women and were included in this analysis. The definition of postpartum in the survey was“I have been pregnant within the last 12 months”. The survey included questions on PPD screening and diagnosis. We used chi-squared testing to examine differences by race-ethnicity, education, income, and proximity to healthcare in PPD screening.Results:Among the 311 postpartum women (mean age: 33.3 ± 4.8 years), 83% recalled being screened for PPD. Of the 311 women, 15% reported a diagnosis of PPD, of which 92% received treatment. There were no significant differences in PPD screening by race-ethnicity: non-Hispanic White (82%), non-Hispanic Black (83%), Asian (88%), Hispanic (80%) (p=0.91), possibly limited by sample size (Fig 1a). Similarly, there were no significant differences by educational status (p=0.22) (Fig 1b) or income (p=0.53) (Fig 1c). Women who lived in a big city with access to many hospitals had higher proportion of screening (88%), while rural area dwellers had the least (74%, p=0.54) (Fig 1d).Conclusion:Among this multiracial cohort of postpartum women, the prevalence of self-reported screening and diagnosis of PPD was 83% and 15%, respectively. The prevalence of screening did not significantly differ by race-ethnicity, education, income, and proximity to healthcare. Future larger studies were suggested to explore screening of PPD by race and other social determinants of health.
Abstract 12279: Cardiovascular Disease Progression in Children With Homozygous Familial Hypercholesterolemia Despite Early Diagnosis on a Genetic Cascade Screening Program
Circulation, Volume 146, Issue Suppl_1, Page A12279-A12279, November 8, 2022. Introduction:Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-c) and very high risk of premature atherosclerotic cardiovascular (ASCVD) and aortic/supraortic valve heart diseases (VHD). The study aim was to examine clinical and biochemical trajectories of a cohort of HoFH patients since childhood.Methods:In this longitudinal study we assessed the incidence of manifest or subclinical ASCVD (coronary or carotid) and VHD as well as plasma lipids in a cohort of HoFH subjects during a 12.9 ± 9.6 years follow-up.Results:From the 868 individuals ≤19 y-old (at baseline) that were genotyped on a genetic cascade screening program, 420 (48.4%) had an FH mutation. From children bearing mutations, 12 were true homozygotes and 1 was compound heterozygote (53.8% females, mean age 7.5 ± 4.1 years at the first visit). During follow-up all were on statin and ezetimibe therapies, and the mean final dose of atorvastatin was 56 ± 27 mg/d (n=10); and rosuvastatin, 26 ± 17 mg/d (n=3). Initial and on treatment LDL-c were 655 ± 177 mg/dL and 399 ± 150 mg/dL, respectively, with a mean 39.1% reduction (-256 mg/dL). None were under LDL apheresis; 2 patients used mipomersen, 2 lomitapide, and 2 are currently using PCSK9 inhibitors. Subclinical cardiovascular disease, either coronary, carotid or in aortic valve, was identified in 38.5% (n=5; mean age 16.4 ± 9.8 years), whereas 30.8% had a clinical cardiovascular event (n=4; mean age 22.8 ± 6.8 years), with 2 deaths. Therefore, 69.3% had either subclinical or manifest cardiovascular disease.Conclusion:Despite early diagnosis and LDL-c reduction HoFH is still marked by an adverse and premature cardiovascular disease progression. Conventional lipid lowering therapies are not adequate to prevent ASCVD and VHD disease course.
Abstract 14324: Improving Rates of Uncontrolled Atrial Fibrillation Through Obstructive Sleep Apnea Screening and Management: Preliminary Data From the OFIB Institutional Quality Initiative
Circulation, Volume 146, Issue Suppl_1, Page A14324-A14324, November 8, 2022. Introduction:Untreated obstructive sleep apnea (OSA) is a major cause of uncontrolled atrial fibrillation (AF). It represents a high prevalence and incidence, as well as significant cause of mortality. Uncontrolled AF with recurrent emergency department (ED) visits and inpatient admissions poses a burden to patient quality of life and increased risk of cardiovascular events, in addition to healthcare costs.Hypothesis:We aim to reduce ED visits and hospitalizations for General Internal Medicine resident clinic patients with OSA and uncontrolled AF over the next year by 10%.Methods:We identified approximately 382 patients with inclusion criteria of age 18-70 years with a history of both AF and OSA without documented CPAP use. Interventions included a week long educational session to all residents starting March 2022, standardizing CPAP device ordering/monitoring, and patient education. A protocol for sleep study ordering and CPAP titration was implemented across clinics. The next phase is inpatient screening and referrals.Results:Prior to our intervention date, 14.7% of our study population presented with uncontrolled AF in the past year. Since our interventions, 2.4% have presented with uncontrolled AF.Conclusions:Our preliminary interventions have shown a numerical trend towards decreasing rates of uncontrolled AF in patients with OSA at our institution. Our interventions are ongoing with periodic evaluation of outcomes. Our findings support the need for a comprehensive approach targeting both providers and patients.
Abstract 10579: Prevalence and Morphology of Premature Ventricular Contractions on Routine Athletic Electrocardiogram Screening
Circulation, Volume 146, Issue Suppl_1, Page A10579-A10579, November 8, 2022. Introduction:The clinical implications of incidental premature ventricular contractions (PVCs) are poorly understood. Though controversial, athletes often receive electrocardiograms (ECGs) during pre-participation exams. The prevalence and morphologies of PVCs in this cohort have not been widely reported. Recent studies have defined benign PVC morphologic patterns in athlete populations that may guide clinical evaluations.Methods:Digital ECGs were obtained from 10,728 screened athletes aged 14 to 35 at school and professional team screenings in California. Captured PVCs were analyzed using simultaneous frontal and horizontal plane leads, displaying each standard ECG lead in full-length, allowing for morphologic categorization. PVCs were coded for morphology and benign status using recommended criteria outlined in Figure 1.Results:Twenty-six of 10,728 athletes (0.24%) had at least one PVC (Figure 1); 7 of those (27%) had bigeminy and 3 of those (12%) had trigeminy. Overall, participants were 43% female, 62% White, 12% Black, 9% Asian, and 8% Hispanic. Of those with PVCs, 50% were female, 65% were White, 23% were Black, 8% were Asian, and 4% were Hispanic. Twenty-four ECGs (92%) had PVCs with benign patterns, including 17 with right ventricular outflow tract, 5 with left anterior fascicle, and 2 with left posterior fascicle morphology. Two ECGs had non-benign PVCs with left bundle branch patterns and superior axes. Both of these athletes had normal echocardiograms and exercise testing and are being followed closely.Conclusions:We found a low prevalence of PVCs on routine ECG screening of young athletes, although evaluation of PVC prevalence and frequency are limited by the short duration of an ECG. Most incidental PVCs among young athletes had benign patterns. This study also demonstrates the value of digital ECG recorders to display simultaneous frontal and horizontal plane leads for the morphologic categorization of PVCs which may guide further workup.
Abstract 11937: Genetic Cardiomyopathies Misdiagnosed as Isolated Cardiac Sarcoidosis: High-Yield Results of a Systematic Screening Strategy
Circulation, Volume 146, Issue Suppl_1, Page A11937-A11937, November 8, 2022. Introduction:Isolated cardiac sarcoidosis (ICS) poses a diagnostic challenge due to its patchy myocardial involvement and low yield of endomyocardial biopsy (EMB). The diagnosis is often suggested by (18)F-fluorodeoxyglucose (FDG) avidity on positron emission tomograpy (PET) scan. Genetic cardiomyopathies (some of which may be FDG-avid) often present with similar clinical manifestations as ICS, so we evaluated a systematic screening strategy in which all patients with suspected ICS were offered genetic testing.Methods:We reviewed all patients in our Multi-Disciplinary Sarcoid Consortium for those given a diagnosis of ICS by the referring provider based on FDG-PET scans with myocardial but no systemic FDG avidity. These patients were offered genetic testing with commercially available genetic cardiomyopathy and arrhythmia panels (168 genes).Results:Of 110 patients referred, 16 met inclusion criteria, 1 had EMB-proven ICS, 1 did not consent, and 14 were referred for genetic testing. Ten patients (71%) also underwent cardiac MRI, of which 9 had late gadolinium enhancement. Mean age was 61.7±11.6 years, 12 (86%) were male. Mean ejection fraction at time of presentation was 43±10%. Four patients (29%) had presented with atrio-ventricular block, 12 (86%) with ventricular arrhythmias and 12 (86%) with left ventricular systolic dysfunction. Eight (57%) had EMB without granulomas (6 had not undergone EMB). Of these 14 patients, 5 (36%) had pathogenic mutations: 2 inLMNA,2 inTPM1,and 1 inMYBPC3. All 5 patients’ clinical phenotype was consistent with their genotype and 3 had previously been immunosuppressed without clinical improvement or resolution of FDG avidity.Conclusions:Genetic cardiomyopathy is often misdiagnosed as “isolated cardiac sarcoid.” A screening strategy of genetic testing all patients with isolated myocardial FDG avidity on FDG-PET scans had a 36% yield for pathogenic mutations and should be considered as part of routine clinical care.
Abstract 12318: Echocardiographic or Blood Pressure Screening of Women With Past Pre-Eclampsia and Gestational Hypertension: The Western Health Survey of Heart Failure Risk After Pregnancy Hypertension Pilot Survey
Circulation, Volume 146, Issue Suppl_1, Page A12318-A12318, November 8, 2022. Introduction:Pre-eclampsia (Pec) and gestational hypertension (GHT) are potential explanations for the female preponderance of heart failure with preserved ejection fraction. How and when to use this information clinically is unclear.Hypothesis:We hypothesized that subclinical disturbances of left ventricular (LV) structure and function (stage B heart failure, SBHF) are more common at 5-10 years post-partum in women with a history of Pec compared with women with GHT or uneventful pregnancies.Methods:The proportion of SBHF were compared between 25 women with Pec, 16 with GHT or normal pregnancy. Sub-group analysis comparing patients with and without hypertension at follow-up were also conducted.Results:Among 41 participants (age 40±6 years), followed at 9 years, SBHF was reported in 35% participants with Pec and 53% with GHT (p=0.32). Diastolic blood pressure was significantly higher in patients with SBHF than without (94±21 vs. 81±13 mmHg, p=0.035), and a similar trend was observed with systolic blood pressure (147±42 vs. 128±22mmHg, p=0.099). SBHF was observed in 6 (55%) of 11 pts with hypertension at follow-up, but only in 7 (32%) of 22 without (p=0.27). Mean LV end-diastolic volume (117.2±19.1 vs. 93.3±13.1mL,p=0.03), LV end-systolic volume (51.9±7.5 vs. 42±7 mL,p=0.04), LV mass index (73±8.6 vs. 67.3±14.6mmHg, p=0.41), E/e’ (Sept: 9.7±2.7 vs. 7.5±1.7,p=0.009; Lat: 7.4±2.6 vs. 5.5±1.7,p=0.02) were higher in participants with hypertension than without.Conclusions:9 years after pregnancy, SBHF was prevalent in pts with both previous Pec and GHT, but was not significantly different between the entities. Echocardiographic screening may add little to blood pressure follow-up in the identification of HF risk.
Abstract 13811: A Percentile Approach to Refining ECG Criteria for Screening Female Athletes for Cardiac Risk
Circulation, Volume 146, Issue Suppl_1, Page A13811-A13811, November 8, 2022. Introduction:Despite known differences in electrocardiographic (ECG) findings by sex, only empirical thresholds for both sexes exist in current ECG guidelines for screening athletes for risk of sudden cardiac death (SCD). We hypothesize that our large dataset – with diversity in age, race, and sport participation – can be utilized to improve ECG screening in female athletes.Methods:Computerized 12-lead ECGs were recorded and analyzed in female athletes who underwent PPE between 06/2010 and 09/2021. The 2017 international criteria for ECG interpretation were compared to either the 99th percentile in our cohort or the percentile that corresponded to the known disease prevalence for HCM and Long QT syndrome. For ST depression the 99.5th percentile, a marker for HCM, was used; for QTc prolongation, the 99.9th percentile was used. RS wave amplitude was considered a marker for hypertrophy or low voltage.Results:Of 3476 athletes, the 2017 international criteria classified 2.2% with at least one ECG abnormality requiring cardiological evaluation. Rates were similar across ages, race/ethnicity, and sporting discipline. Using a percentile approach based on our population, 3.3% would require additional workup. Surprisingly, ST depression up to 0.03 mV was a normal finding in this cohort. If RS voltage extremes were considered abnormal findings, an additional 9.6% of the population would be flagged using current definitions. This number decreases to 3.4% if using the 99th percentile.Conclusions:These results highlight a difference in the reported prevalence of ECG abnormalities when comparing empirically derived thresholds to statistically derived ranges that fall outside the 99th percentile. Consideration of new metrics specific to the female athlete population has the potential to further refine athlete ECG screening.