Prime time for chronic kidney disease.

Chronic kidney disease (CKD) represents a public health burden worldwide and is associated with significant morbidity and mortality. Most patients with CKD are managed by primary care practitioners and this educational series hope to improve knowledge and delivery of care to this high-risk patient population with CKD.

Artificial intelligence for dementia prevention.

INTRODUCTION: A wide range of modifiable risk factors for dementia have been identified. Considerable debate remains about these risk factors, possible interactions between them or with genetic risk, and causality, and how they can help in clinical trial recruitment and drug development. Artificial intelligence (AI) and machine learning (ML) may refine understanding. METHODS: ML approaches are being developed in dementia prevention. We discuss exemplar uses and evaluate the current applications and limitations in the dementia prevention field. RESULTS: Risk-profiling tools may help identify high-risk populations for clinical trials; however, their performance needs improvement. New risk-profiling and trial-recruitment tools underpinned by ML models may be effective in reducing costs and improving future trials. ML can inform drug-repurposing efforts and prioritization of disease-modifying therapeutics. DISCUSSION: ML is not yet widely used but has considerable potential to enhance precision in dementia prevention. HIGHLIGHTS: Artificial intelligence (AI) is not widely used in the dementia prevention field. Risk-profiling tools are not used in clinical practice. Causal insights are needed to understand risk factors over the lifespan. AI will help personalize risk-management tools for dementia prevention. AI could target specific patient groups that will benefit most for clinical trials.

Improving Primary Care Delivery for Patients Receiving Maintenance Hemodialysis.

The beneficial impact of primary care, focused on all aspects of a patient's health (rather than a disease-specific focus) is well established. Recognized benefits include greater receipt of preventive care and counseling, lower use of emergency care and hospitalization for ambulatory care-sensitive conditions, and decreased early mortality. Although the importance of primary care and care coordination at the primary care/specialty interface is well recognized, the role of primary care within traditional and emerging care models for patients receiving in-center maintenance hemodialysis remains ill-defined. In this perspective article, we will describe: (1) the role of primary care for patients receiving maintenance hemodialysis and the current evidence regarding the receipt of primary care among these patients; (2) the key challenges to delivery of primary care in these complex cases, including suboptimal care coordination between nephrology and primary care providers, the intensity of dialysis care, and the limited capacity of nephrologists and primary care providers to meet the broad health needs of hemodialysis patients; (3) potential strategies for improving the delivery of primary care for patients receiving hemodialysis; and (4) future research requirements to improve primary care delivery for this high-risk population.

High Scan Volume with Low Positive Scan Rate in Highest Utilizers: Computed Tomography Pulmonary Angiography in the Emergency Department.

BACKGROUND: We examined utilization patterns and predictors of computed tomography pulmonary angiography (CTPA) results in the emergency department (ED). OBJECTIVES: We retrospectively determined ED CTPA positive scan rate (PSR) among ED attendings based on a system that grouped attendings into scan quantity categories through >100. METHODS: We manually reviewed all scans ordered in 2017 in EDs in a multisite medical system. RESULTS: Of 10,032 ED CTPAs, 6168 were ordered by 153 ED attendings. Most attendings (123/153; 80%) ordered 60 or fewer scans with relatively high PSR (259/2927, PSR 8.8%; 95% confidence interval 7.8-9.9%). Of the ED attendings, 13 (3%) ordered more than 100 scans each (1981 scans; 32% of all scans), with PSR of 5.5% (95% confidence interval 4.5-6.5%). CONCLUSION: Most ED attendings were low- to mid-volume utilizers of CTPA and had a relatively high PSR. However, the small percentage of attendings who ordered more than 100 scans each accounted for a large percentage of the total scan volume and had a relatively low PSR. These findings suggest that sharing of performance feedback and best practices in the highest utilizers could help to improve CTPA PSR in the ED.

Missed Ischemic Stroke Diagnosis in the Emergency Department by Emergency Medicine and Neurology Services.

BACKGROUND AND PURPOSE: The failure to recognize an ischemic stroke in the emergency department is a missed opportunity for acute interventions and for prompt treatment with secondary prevention therapy. Our study examined the diagnosis of acute ischemic stroke in the emergency department of an academic teaching hospital and a large community hospital. METHODS: A retrospective chart review was performed from February 2013 to February 2014. RESULTS: A total of 465 patients with ischemic stroke were included in the analysis; 280 patients from the academic hospital and 185 patients from the community hospital. One hundred three strokes were initially misdiagnosed that is 22% of the included strokes at the combined centers. Fifty-five of these were missed at the academic hospital (22%) [corrected] and 48 were at the community hospital (26%, P=0.11). Thirty-three percent of missed cases presented within a 3-hour time window for recombinant tissue-type plasminogen activator eligibility. An additional 11% presented between 3 and 6 hours of symptom onset for endovascular consideration. Symptoms independently associated with greater odds of a missed stroke diagnosis were nausea/vomiting (odds ratio, 4.02; 95% confidence interval, 1.60-10.1), dizziness (odds ratio, 1.99; 95% confidence interval, 1.03-3.84), and a positive stroke history (odds ratio, 2.40; 95% confidence interval, 1.30-4.42). Thirty-seven percent of posterior strokes were initially misdiagnosed compared with 16% of anterior strokes (P<0.001). CONCLUSIONS: Atypical symptoms associated with posterior circulation strokes lead to misdiagnoses. This was true at both an academic center and a large community hospital. Future studies need to focus on the evaluation of identification systems and tools in the emergency department to improve the accuracy of stroke diagnosis.

Stress signaling in response to polycyclic aromatic hydrocarbon exposure in Arabidopsis thaliana involves a nucleoside diphosphate kinase, NDPK-3.

MAIN CONCLUSION: The study is the first to reveal the proteomic response in plants to a single PAH stress, and indicates that NDPK3 is a positive regulator in the Arabidopsis response to phenanthrene stress. Polycyclic aromatic hydrocarbons (PAHs) are highly carcinogenic pollutants that are byproducts of carbon-based fuel combustion, and tend to persist in the environment for long periods of time. PAHs elicit complex, damaging responses in plants, and prior research at the physiological, biochemical, and transcriptional levels has indicated that reactive oxygen species (ROS) and oxidative stress play major roles in the PAH response. However, the proteomic response has remained largely unexplored. This study hypothesized that the proteomic response in Arabidopsis thaliana to phenanthrene, a model PAH, would include a strong oxidative stress signature, and would provide leads to potential signaling molecules involved. To explore that proteomic signature, we performed 2D-PAGE experiments and identified 30 proteins levels that were significantly altered including catalases (CAT), ascorbate peroxidase (APX), peroxiredoxins (POD), glutathione-S-transferase, and glutathione reductase. Also upregulated was nucleoside diphosphate kinase 3 (NDPK-3), a protein known to have metabolic and stress signaling functions. To address whether NDPK-3 functions upstream of the oxidative stress response, we measured levels of stress-responsive enzymes in NDPK-3 overexpressor, loss-of-function knockout, and wild-type plant lines. In the NDPK-3 overexpressor, the enzyme activities of APX, CAT, POD, as well as superoxide dismutase were all increased compared to wild type; in the NDPK-3 knockout line, these enzymes had reduced activity. This pattern occurred in untreated as well as phenanthrene-treated plants. These data support a model in which NDPK-3 is a positive regulator of the Arabidopsis stress response to PAHs.

Permeable Reactive Barriers Designed To Mitigate Eutrophication Alter Bacterial Community Composition and Aquifer Redox Conditions.

Permeable reactive barriers (PRBs) consist of a labile carbon source that is positioned to intercept nitrate-laden groundwater to prevent eutrophication. Decomposition of carbon in the PRB drives groundwater anoxic, fostering microbial denitrification. Such PRBs are an ideal habitat to examine microbial community structure under high-nitrate, carbon-replete conditions in coastal aquifers. We examined a PRB installed at the Waquoit Bay National Estuarine Research Reserve in Falmouth, MA. Groundwater within and below the PRB was depleted in oxygen compared to groundwater at sites upgradient and at adjacent reference sites. Nitrate concentrations declined from a high of 25 µM upgradient and adjacent to the barrier to <0.1 µM within the PRB. We analyzed the total and active bacterial communities filtered from groundwater flowing through the PRB using amplicons of 16S rRNA and of the 16S rRNA genes. Analysis of the 16S rRNA genes collected from the PRB showed that the total bacterial community had high relative abundances of bacteria thought to have alternative metabolisms, such as fermentation, including candidate phyla OD1, OP3, TM7, and GN02. In contrast, the active bacteria had lower abundances of many of these bacteria, suggesting that the bacterial taxa that differentiate the PRB groundwater community were not actively growing. Among the environmental variables analyzed, dissolved oxygen concentration explained the largest proportion of total community structure. There was, however, no significant correlation between measured environmental parameters and the active microbial community, suggesting that controls on the active portion may differ from the community as a whole.

Marine Oxygen-Deficient Zones Harbor Depauperate Denitrifying Communities Compared to Novel Genetic Diversity in Coastal Sediments.

Denitrification is a critically important biogeochemical pathway that removes fixed nitrogen from ecosystems and thus ultimately controls the rate of primary production in nitrogen-limited systems. We examined the community structure of bacteria containing the nirS gene, a signature gene in the denitrification pathway, from estuarine and salt marsh sediments and from the water column of two of the world's largest marine oxygen-deficient zones (ODZs). We generated over 125,000 nirS gene sequences, revealing a large degree of genetic diversity including 1,815 unique taxa, the vast majority of which formed clades that contain no cultured representatives. These results underscore how little we know about the genetic diversity of metabolisms underlying this critical biogeochemical pathway. Marine sediments yielded 1,776 unique taxa when clustered at 95 % sequence identity, and there was no single nirS denitrifier that was a competitive dominant; different samples had different highly abundant taxa. By contrast, there were only 39 unique taxa identified in samples from the two ODZs, and 99 % of the sequences belonged to 5 or fewer taxa. The ODZ samples were often dominated by nirS sequences that shared a 92 % sequence identity to a nirS found in the anaerobic ammonium-oxidizing (anammox) genus Scalindua. This sequence was abundant in both ODZs, accounting for 38 and 59 % of all sequences, but it was virtually absent in marine sediments. Our data indicate that ODZs are remarkably depauperate in nirS genes compared to the remarkable genetic richness found in coastal sediments.

Toxicity mechanisms identification via gene set enrichment analysis of time-series toxicogenomics data: impact of time and concentration.

The advance in high-throughput "toxicogenomics" technologies, which allows for concurrent monitoring of cellular responses globally upon exposure to chemical toxicants, presents promises for next-generation toxicity assessment. It is recognized that cellular responses to toxicants have a highly dynamic nature, and exhibit both temporal complexity and dose-response shifts. Most current gene enrichment or pathway analysis lack the recognition of the inherent correlation within time series data, and may potentially miss important pathways or yield biased and inconsistent results that ignore dynamic patterns and time-sensitivity. In this study, we investigated the application of two score metrics for GSEA (gene set enrichment analysis) to rank the genes that consider the temporal gene expression profile. One applies a novel time series CPCA (common principal components analysis) to generate scores for genes based on their contributions to the common temporal variation among treatments for a given chemical at different concentrations. Another one employs an integrated altered gene expression quantifier-TELI (transcriptional effect level index) that integrates altered gene expression magnitude over the exposure time. By comparing the GSEA results using two different ranking metrics for examining the dynamic responses of reporter cells treated with various dose levels of three model toxicants, mitomycin C, hydrogen peroxide, and lead nitrate, the analysis identified and revealed different toxicity mechanisms of these chemicals that exhibit chemical-specific, as well as time-aware and dose-sensitive nature. The ability, advantages, and disadvantages of varying ranking metrics were discussed. These findings support the notion that toxicity bioassays should account for the cells' complex dynamic responses, thereby implying that both data acquisition and data analysis should look beyond simple traditional end point responses.

FunFrame: functional gene ecological analysis pipeline.

SUMMARY: Pyrosequencing of 16S rDNA is widely used to study microbial communities, and a rich set of software tools support this analysis. Pyrosequencing of protein-coding genes, which can help elucidate functional differences among microbial communities, significantly lags behind 16S rDNA in availability of sequence analysis software. In both settings, frequent homopolymer read errors inflate the estimation of microbial diversity, and de-noising is required to reduce that bias. Here we describe FunFrame, an R-based data-analysis pipeline that uses recently described algorithms to de-noise functional gene pyrosequences and performs ecological analysis on de-noised sequence data. The novelty of this pipeline is that it provides users a unified set of tools, adapted from disparate sources and designed for different applications, that can be used to examine a particular protein coding gene of interest. We evaluated FunFrame on functional genes from four PCR-amplified clones with sequence depths ranging from 9084 to 14 494 sequences. FunFrame produced from one to nine Operational Taxanomic Units for each clone, resulting in an error rate ranging from 0 to 0.18%. Importantly, FunFrame reduced spurious diversity while retaining more sequences than a commonly used de-noising method that discards sequences with frameshift errors. AVAILABILITY: Software, documentation and a complete set of sample data files are available at http://faculty.www.umb.edu/jennifer.bowen/software/FunFrame.zip.

The frequency of tetracycline resistance genes co-detected with respiratory pathogens: a database mining study uncovering descriptive trends throughout the United States.

BACKGROUND: The Center for Disease Control and Prevention (CDC) indicates that one of the largest problems threatening healthcare includes antibiotic resistance. Tetracycline, an effective antibiotic that has been in use for many years, is becoming less successful in treating certain pathogens. To better understand the temporal patterns in the growth of antibiotic resistance, patient diagnostic test records can be analyzed. METHODS: Data mining methods including frequent item set mining and association rules via the Apriori algorithm were used to analyze results from 80,241 Target Enriched Multiplex-PCR (TEM-PCR) reference laboratory tests. From the data mining results, five common respiratory pathogens and their co-detection rates with tetracycline resistance genes (TRG) were further analyzed and organized according to year, patient age, and geography. RESULTS: From 2010, all five pathogens were associated with at least a 24% rise in co-detection rate for TRGs. Patients from 0-2 years old exhibited the lowest rate of TRG co-detection, while patients between 13-50 years old displayed the highest frequency of TRG co-detection. The Northeastern region of the United States recorded the highest rate of patients co-detected with a TRG and a respiratory pathogen. Along the East-west gradient, the relative frequency of co-detection between TRGs and respiratory pathogens decreased dramatically. CONCLUSIONS: Significant trends were uncovered regarding the co-detection frequencies of TRGs and respiratory pathogens over time. It is valuable for the field of public health to monitor trends regarding the spread of resistant infectious disease, especially since tetracycline continues to be utilized a treatment for various microbial infections. Analyzing large datasets containing TEM-PCR results for co-detections provides valuable insights into trends of antibiotic resistance gene expression so that the effectiveness of first-line treatments can be continuously monitored.

Aortic root dilation in acromegaly.

Previous studies have linked persistent elevations in growth hormone (GH) and insulin-like growth factor-1 (IGF-1) to cardiac abnormalities including aortic root dilation. Guidelines in the management of this dilation below the size recommended for surgery have not been well defined but follow-up and intervention when appropriate could be life-saving. We report the case of a man in his 60s who had been living with undiagnosed acromegaly for many years. His initial assessment through point-of-care ultrasound raised concerns about potential cardiac enlargement, prompting further investigation with a formal echocardiogram, which revealed a significant aortic root dilation measuring 4.5 cm. Subsequent blood tests confirmed elevated levels of IGF-1. Brain MRI showed a focal lesion in the pituitary gland, which was surgically resected, confirming the diagnosis of a GH-secreting pituitary adenoma. One year after surgery, a repeat CT angiogram of the chest demonstrated a stable size of the aortic root aneurysm.

Real-world experience utilizing the nuvision 4D intracardiac echocardiography catheter for left atrial appendage closure.

Transesophageal echocardiography (TEE) has been the preferred imaging modality to help guide left atrial appendage closure. Newer technologies such as the Nuvision 4D Intracardiac echocardiography (ICE) catheter allow for real-time 3D imaging of cardiac anatomy. There are no direct comparison studies for procedural imaging between TEE and 4D ICE. To evaluate the performance and safety of left atrial appendage (LAA) closure procedures with the Watchman FLX and Amulet, guided by the Nuvision 4D ICE Catheter. This retrospective observational analysis was conducted on institutional LAAO National Cardiovascular Data Registry from January 2022 to March 2023. Patients had undergone LAA closure procedures with the Watchman FLX or Amulet device guided by TEE or a 4D ICE Catheter. The primary outcome evaluated was successful LAAO device placement. A total of 121 patients underwent LAAO device placement with 46 (38.0%) patients guided by 4D ICE during LAAO implantation. The 4D ICE group had a shorter procedural time compared with TEE guidance. Post procedural 45-day TEE post implant was also comparable for both groups with no patients in either group having incomplete closure of the left atrial appendage and peri-device leak > 5 mm. No device related complications (device related access, stroke, or pericardial effusion) occurred in either group at follow-up. There was no significant difference in device implant success or post procedural outcomes at 45 days in either the TEE or 4D ICE group. However, there was a noticeable improvement in procedural time with the 4D ICE catheter.

Outcome Comparison in Hospitalized COVID-19 Patients With and Without AKI.

Aim: Patients hospitalized with COVID-19 have a higher incidence of Acute Kidney Injury (AKI) compared with non-COVID patients. Previous observational studies showed AKI in hospitalized patients with COVID-19 was associated with significant increased mortality rate. We conducted a retrospective cohort study in a large mid-Atlantic health system to investigate whether COVID-19 associated AKI during hospitalization would lead to worse outcomes in a predominant Black patient population, compared to COVID-19 without AKI. Methods: We reviewed health records of patients (aged≥18 years) admitted with symptomatic COVID-19 between March 5, 2020, and Jun 3, 2020, in 9 acute care facilities within the MedStar Health system. Patients were followed up until 3 months after discharge. Primary outcome was inpatient mortality. Secondary outcomes were need for ICU level of care, need for intubation, length of ICU stay, length of hospital stay, need for renal replacement therapy, recovery of renal function. Results: Among 1107 patients admitted with symptomatic COVID-19, the AKI incidence rate was 35 %. African American patients made up 63 % of the total patient population and 74 % of the total AKI population. Inpatient mortality in the AKI group and the non-AKI group was 163 (41.9 %) and 71 (9.9 %), respectively. COVID-19 patients with AKI had significant higher risk of in-patient mortality (OR, 4.71 [95 % CI, 3.38-6.62], P < 0.001), ICU admission (OR, 4.27 [95 % CI, 3.21-5.72], P < 0.001) and need of intubation (OR, 6.18 [95 % CI, 4.45-8.68], P < 0.001). Conclusions: AKI in hospitalized patients with COVID-19 was associated with higher mortality rate, need for intubation and ICU admission compared to COVID-19 patients without AKI group.

The Ultrasound Hepato-Jugular Reflux: Measuring the Hepato-Jugular Reflux with Ultrasound with Comparison to Invasive Right Heart Catheterization.

BACKGROUND: Ultrasound can overcome barriers to visualizing the internal jugular vein, allowing hepato-jugular reflux and jugular venous pressure measurement. We aimed to determine operating characteristics of the ultrasound hepato-jugular reflux and ultrasound jugular venous pressure predicting right atrial and pulmonary capillary occlusion pressures. METHODS: In a prospective observational cohort at three US academic hospitals the hepato-jugular reflux and jugular venous pressure were measured with ultrasound before right heart catheterization. Receiver operating curves, likelihood ratios, and regression models were utilized to compare the ultrasound hepato-jugular reflux and ultrasound jugular venous pressure to the right atrial and pulmonary capillary occlusion pressures. RESULTS: In 99 adults undergoing right heart catheterization, an ultrasound hepato-jugular reflux had a negative likelihood ratio of 0.4 if 0 cm and a positive likelihood ratio of 4.3 if ≥ 1.5 cm for predicting a pulmonary capillary occlusion pressure ≥ 15 mmHg. Regression modeling predicting pulmonary capillary occlusion pressure was not only improved by including the ultrasound hepato-jugular reflux (P < .001), it was the more impactful predictor compared with the ultrasound jugular venous pressure (adjusted odds ratio 2.6 vs 1.2). The ultrasound hepato-jugular reflux showed substantial agreement (kappa 0.76; 95% confidence interval, 0.30-1.21), with poor agreement for the ultrasound jugular venous pressure (kappa 0.11; 95% confidence interval, -0.37-0.58). CONCLUSION: In patients undergoing right heart catheterization, the ultrasound hepato-jugular reflux is reproducible, has modest impact on the probability of a normal pulmonary capillary occlusion pressure when 0 cm, and more substantial impact on the probability of an elevated pulmonary capillary occlusion pressure when ≥ 1.5 cm.

Spontaneous Retroperitoneal Hematoma in Vitamin C Deficiency.

Retroperitoneal hematoma is rare but potentially life-threatening. It is commonly caused by traumatic or iatrogenic vascular injury, retroperitoneal neoplasm, coagulopathy, chronic anticoagulation, or fibrinolytic therapy. However, retroperitoneal hematoma due to vitamin C deficiency is rare. Here, we report a case of 40 years old man who developed retroperitoneal hematoma in context of very low vitamin C. To our knowledge, this is the second described case of retroperitoneal hematoma from vitamin C deficiency.

Diagnostic dilemma: drug-induced vasculitis versus systemic vasculitis.

Drug-induced vasculitis can rarely cause inflammation and necrosis of blood vessel walls of both kidney and lung tissue. Diagnosis is challenging because of the lack of difference between systemic and drug-induced vasculitis in clinical presentation, immunological workup and pathological findings. Tissue biopsy guides diagnosis and treatment. Pathological findings must be correlated with clinical information to arrive at a presumed diagnosis of drug-induced vasculitis. We present a patient with hydralazine-induced antineutrophil cytoplasmic antibodies-positive vasculitis with a pulmonary-renal syndrome manifesting as pauci-immune glomerulonephritis and alveolar haemorrhage.

Generation and Characterization of a Human-Derived and Induced Pluripotent Stem Cell (iPSC) Line from an Alzheimer's Disease Patient with Neuropsychiatric Symptoms.

Agitation is one of the most eminent characteristics of neuropsychiatric symptoms (NPS) affecting people living with Alzheimer's and Dementia and has serious consequences for patients and caregivers. The current consensus is that agitation results, in part, from the disruption of ascending monoamine regulators of cortical circuits, especially the loss of serotonergic activity. It is believed that the first line of treatment for these conditions is selective serotonin reuptake inhibitors (SSRIs), but these are effective in only about 40% of patients. Person-specific biomarkers, for example, ones based on in vitro iPSC-derived models of serotonin activity, which predict who with Agitation responds to an SSRI, are a major clinical priority. Here, we report the generation of human-induced pluripotent stem cells (iPSCs) from a 74-year-old AD patient, the homozygous APOE ε4/ε4 carrier, who developed Agitation. His iPSCs were reprogrammed from peripheral blood mononuclear cells (PBMCs) using the transient expression of pluripotency genes. These display typical iPSC characteristics that are karyotypically normal and attain the capacity to differentiate into three germ layers. The newly patient-derived iPSC line offers a unique resource to investigate the underlying mechanisms associated with neuropsychiatric symptom progression in AD.

Analyzing high dimensional toxicogenomic data using consensus clustering.

Rapid development of high-throughput toxicogenomics technologies has created new approaches to screen environmental samples for mechanistic toxicity assessment. However, challenges remain in the analysis, especially clustering of the resulting high-dimensional data. Because of the lack of commonly accepted validation methods, it is difficult to compare clustering results between studies or to identify the key experimental or data features that impact the clustering results. We applied consensus clustering (CC), an approach that clusters the input data repeatedly through iterative resampling, and identifies frequently occurring high-confidence clusters. We used CC to analyze a set of high dimensional transcriptomics data with temporal resolution, which were generated using our E. coli whole-cell array system for a diverse variety of toxicants at different dose concentrations. The CC analysis allowed us to evaluate the clustering results' robustness and sensitivity against a number of conditions that represent the common variations in high-throughput experiments, including noisy data, subsets of treatments, subsets of reporter genes, and subsets of time points. We demonstrated the value of utilizing rich time-series data and underscored the importance of careful selection of sampling times for a given experimental system. The results also indicated that temporal data compression using our proposed Transcriptional Effect Level Index (TELI) concept followed by CC largely conserved the cluster resolution. We also found that for our cellular stress response ensemble-based high-throughput transcriptomics assay platform, the size and composition of the reporter gene set are critical factors that affect the resulting coherency of clusters. Taken together, these results demonstrated that more robust consensus clustering such as CC may be valuable in analyzing high-dimensional toxicogenomic data sets.

Ruptured Sinus of Valsalva Aneurysm in Apert Syndrome: Case report.

Background: Sinus of Valsalva aneurysm (SOVA) is a rare anomaly of the aorta that can be congenital or acquired. It can be associated with syndromes such as Marfan syndrome and Ehlers-Danlos syndrome. However, to our knowledge, it has never been described in a patient with Apert syndrome. Although it often presents as an incidental finding on imaging, SOVA is associated with the risk of serious complications, including rupture. A possible connection between the conditions might be the FGFR2 gene mutation in Apert syndrome and the influence of a mutation in fibroblast growth factor 2 (FGF2) on heart development. Here we report a case of acute heart failure secondary to rupture of SOVA into the right atrium in a patient with Apert syndrome. Case presentation: A 47-year-old Caucasian woman with a history of Apert syndrome and rheumatoid arthritis presented with shortness of breath, orthopnea, paroxysmal nocturnal dyspnea, and progressive bilateral lower extremity edema for 2 weeks. She was diagnosed with acute right heart failure due to ruptured SOVA. The patient underwent surgical repair of the ruptured SOVA. Unfortunately, her postoperative course was complicated by a stroke leading to brain death. Conclusion: Ruptured SOVA is a quite rare but serious condition that can cause life-threatening complications. In this case, SOVA occurred in a patient with Apert syndrome. The case may suggest that these two conditions may be related through the FGFR2 gene mutation associated with Apert syndrome and the related growth factor FGF2 involved in heart development.