Severe familial dilated cardiomyopathy in a young adult due to a rare LMNA mutation: a case report.

Background: Familial dilated cardiomyopathy prognosis and disease progression vary greatly depending upon the type of genetic mutation. Family history and genetic testing are paramount in developing the best treatment plan for a patient. However, with rare or novel mutations, the significance may be unknown. Regarding this, the following case report highlights the importance of vigilance and suspicion when treating a patient with a variant of unknown significance. Additionally, it shows the importance of thoroughly investigating the family history of cardiovascular disease. Case summary: A 25-year-old Caucasian male was found to have a right bundle branch block and dilated cardiomyopathy upon presentation to the emergency department. Later testing showed that the dilated cardiomyopathy was due to an incredibly rare lamin A/C (LMNA) gene mutation, R349L. Despite treatment with a maximum-tolerable medication regimen and an automatic implantable cardioverter-defibrillator, the patient continued to decline and required a heart transplant. Discussion: This case provides more information on the severity of this specific LMNA mutation that has only been documented once before. Of note, the time from the initial emergency department visit to the heart transplant was approximately 2 years. Given the patient's young age and rapid disease progression, in addition to a strong family history of sudden cardiac death, the significance of this mutation should not be understated. The additional knowledge gained from this case report can be used to aid in timely interventions and prognosis evaluation.

Comparison of clinical characteristics and outcomes of patients with breast cancer and liver metastases who have or have not undergone radioembolization.

The purpose of this study was to assess characteristics and outcomes of patients with breast cancer with liver metastasis who have and have not undergone radioembolization. Medical records of patients with breast cancer with liver metastases (4,332 patients who had not undergone radioembolization, 166 patients who had) seen between January 1, 2009 and October 31, 2021 were assessed. Propensity Score Matching was performed. Radioembolization patients were significantly younger (47.7 ± 10.1 vs. 52.3 ± 12.5, p <0.001) and underwent more systemic treatment lines (8.6 ± 4.1 vs 5.2 ± 3.2, p < 0.001). Median survival was longer in unmatched (67.1 vs 40.7 months, p=0.001) and matched (67.1 vs. 38.0 months, p=0.001) cohorts. Radioembolization favorably affected survival (p=0.002). In conclusion, patients with breast cancer with liver metastases that undergo radioembolization are significantly younger and undergo more treatment lines. Radioembolization was associated with longer median survival.

Is Type 2 Diabetes Mellitus an Independent Risk Factor for Mortality in Hypertrophic Cardiomyopathy?

Background: The mortality rate of hypertrophic cardiomyopathy (HCM) has decreased between 1999 and 2020. The risk factors for sudden cardiac death (SCD) in HCM were updated in the American Heart Association (AHA)/American College of Cardiology Foundation (ACCF) 2020 guidelines by adding new risk factors, like the late gadolinium enhancement on cardiac magnetic resonance imaging (MRI). Type 2 diabetes mellitus (T2DM) is a major risk factor for most cardiac diseases; however, it is not included in these guidelines due to a lack of strong evidence of a correlation between T2DM and mortality in HCM. Therefore, we sought to investigate if T2DM increases the 5-year risk rate for adverse outcomes, such as heart failure and all-cause mortality in patients with HCM. Methods: We collected patient data from January 1, 2018, to March 1, 2023, using the TriNetX database. The sample included 80,502 individuals with HCM, then divided into two cohorts based on the absence (58,573; cohort 1) or presence (15,296; cohort 2) of T2DM. The two matched groups then underwent survival and risk analyses for all-cause mortality or the first incidence of heart failure diagnosis within 5 years from the point in time when the selection criteria were first met. Results: We found a statistically significant increase in all-cause mortality and new-onset heart failure in HCM patients with diabetes compared to those without diabetes after adjusting for major risk factors. Conclusions: This is one of the largest retrospective cohort studies that examined the correlation between T2DM and adverse outcomes in patients with HCM. This underlines the need for future prospective studies investigating the effects of T2DM on HCM outcomes.

Rare Case of Neuroendocrine Metastasis to the Left Ventricle.

Carcinoid syndrome is a constellation of signs and symptoms caused by different hormones produced by carcinoid tumors. Very rarely, those tumors can metastasize to the heart and cause cardiac involvement of the tumor. This study presents a very rare case of secondary cardiac tumor affecting the left ventricle from a metastatic carcinoid tumor originating from the small intestine without carcinoid valvular heart disease.

Sinus Tachycardia Following COVID-19 and Its Implications.

Background Within the cardiovascular system, sinus tachycardia has been a noted finding in patients with post-COVID-19 syndrome (symptoms persisting beyond 12 weeks post-infection). To better understand post-COVID-19 tachycardia, we examined the prevalence of sinus tachycardia 12-16 weeks after diagnosis of SARS-COV-2 infection and its correlation with intensive care utilization, ventilator use, and mortality in vaccinated and unvaccinated patients. Methods We identified adult patients in the TriNetX COVID-19 Research Network with confirmed SARS-COV-2 diagnosis from January 20th, 2020, to February 14th, 2022, and sinus tachycardia 12-16 weeks after diagnosis. Two cohorts were created: patients who developed tachycardia 12 weeks after initial diagnosis and patients without tachycardia. The tachycardia cohort was divided further based on vaccination status. Results Of 1,363,907 patients included, 30,705 (2.2%) developed tachycardia. The patients with tachycardia had more comorbidities. Using propensity score matching (PSM), two cohorts of 30,702 were created. The SARS-COV-2 tachycardic cohort had higher mortality (5.1% vs 2.1%, p<0.001), critical care utilization (5.8% vs 2.2%, p<0.001), and ventilator use (1.8% vs 0.5%, p<0.001). Out of 22,878 patients with persistent tachycardia and recorded vaccination status, 14,840 (65%) were not vaccinated. Mortality (5.9% vs 2.3%, p<0.001), critical care utilization (8.3% vs 3.6%, p<0.001), and ventilator use (3.8% vs 0.6%, p<0.001) were higher in the non-vaccinated patients compared with the vaccinated patients after PSM.  Conclusion The prevalence of persistent tachycardia after SARS-COV-2 infection is notable at 2.2%. Patients with persistent tachycardia have higher mortality rates and demonstrate greater healthcare utilization at one year compared to patients without persistent tachycardia, particularly if unvaccinated.

Pulmonic valve fibroelastoma-A rare incidental finding.

Primary cardiac neoplasms are a rare, commonly benign, tumor with an approximate incidence rate of 0.02%. Papillary fibroelastoma (PFE), a common form of primary cardiac neoplasms, typically present as a mass on the aortic and mitral valves, while rarely presenting as a pulmonary valve tumor. The majority of PFEs are asymptomatic, however valvular masses can pose a significant health hazard due to their potential to fragment into the bloodstream, facilitate thrombus formation, and restrict blood flow. Due to these risks, careful resection of the mass is recommended for symptomatic patients and asymptomatic patients if the tumor is large (>1 cm), mobile, or on left-sided valves. Here we present a case of an incidental finding of a pulmonic valve papillary fibroelastoma in a 65-year-old man by transesophageal echocardiography during a coronary artery bypass graft procedure.

Effect of Coal Mining on Health Outcomes Between Male and Female Miners in Southern West Virginia: A Brief Report.

PURPOSE: There is evidence of an association between coal mining and an increased prevalence of respiratory and cardiovascular disease (CVD). Mining is significantly associated with elevated chronic CVD mortality rates. Research is limited and looks at the differences between specific health outcomes between male and female coal miners. The aim of this study was to compare the long-term health outcomes of male and female coal miners in southern West Virginia. METHODS: We used the Charleston Area Medical Center (CAMC) data registry to look at specific health outcomes of coal miners. We queried the data warehouse from September 1, 2016, to January 1, 2023, to identify any coal miners coming to CAMC for any treatment. We identified adult patients aged 18-90 years with at least one visit to a clinic in the CAMC system. FINDINGS: We identified (n=2,460) cases of coal miners, comprising of 2,280 males and 180 females. Overall, we found higher mortality rates as well as higher rates of ischemic heart disease, heart failure, cancer, and mental health disorders among male coal miners. CONCLUSIONS: Additional research is needed to further examine possible contributing factors that explain the differences in health outcomes between male and female coal miners. Clinicians and policymakers need to address health disparities and occupational hazards that impact the health outcomes of coal miners living in southern West Virginia.

Impact of Ablation during Index Hospitalization on All-Cause Mortality in Patients with Typical Atrial Flutter: Insights from National Multicenter Database.

Background We sought to assess the impact of ablation during index hospitalization (IH) on all-cause mortality (ACM) in patients presenting with newly diagnosed typical atrial flutter (tAFL) as compared with patients without ablation, irrespective of optimal rate or rhythm control medications. Methods We identified patients with newly diagnosed tAFL in the TriNetX Research Network between January 20, 2010, and January 20, 2021. Using International Classification of Diseases, 10th revision (ICD-10) codes, patients were stratified into those who had undergone ablation during IH and those who did not undergo the procedure. Results were assessed using propensity score matching (PSM) analysis as well as Kaplan-Meier curves. Results A total of 12,986 (N) patients (aged 35-85 years) met our inclusion criteria. Of those, 3,665 had undergone ablation during IH compared with 9,321 patients who did not. Patients in the ablation group (mean age 64.3 ± 10.1 years) had a higher prevalence of hypertension (80 vs. 78.3%, p = 0.02), respectively. PSM created two well-matched groups of 3,652/3,652 patients each with an ACM of ablation of 4.5 versus 7.8% ( p = 0.01) at 6 months, 6.6 versus 11.4% ( p = 0.01) at 12 months, and 14.5 versus 20.9% ( p < 0.001) at 36 months of follow-up. Survival data were confirmed through Kaplan-Meier analysis using a log-rank test. Conclusion From a large, federated, multicenter population database, we report significant survival benefit of ablation during IH in patients presenting with new tAFL diagnosis. Kaplan-Meier mortality curves confirmed survival advantage with ablation at 6, 12, and 36 months of follow-up in this cohort.

Characterization of patients receiving surgical versus non-surgical treatment for infective endocarditis in West Virginia.

BACKGROUND: Infective endocarditis (IE) has increased in rural states such as West Virginia (WV) with high injection drug use. IE is medically managed with antimicrobial treatment alone or combined with surgical treatment. This study aimed to characterize the predictors associated with surgical treatment and rates of inpatient mortality and readmission among IE patients in WV's rural centers. METHODS: This retrospective review of electronic health records includes all adults hospitalized for IE at major rural tertiary cardiovascular centers in WV during 2014-2018. Descriptive statistics were presented on demographics, history of injection drug use, clinical characteristics, and hospital utilization by surgery status, and multivariable logistic regression examined the association of surgery with key predictor variables, generating odds ratios (OR). RESULTS: Of the 780 patients with IE, 38% had surgery, with a 26-fold increase in patients undergoing surgery between 2014-2018. Comparing surgery and non-surgery patients revealed significant differences. Surgery patients were significantly younger (median age 35.6 vs. 40.5 years; p<0.001); had higher rates of drug use history (80% vs. 65%; p<0.001), psychiatric disorders (57% vs. 31%; p<0.001), and readmissions (18% vs.12%; p = 0.015). Surgery patients had lower rates of discharge against medical advice (11% vs.17%; p = 0.028) and in-hospital mortality (5% vs.12%; p<0.001). In the multivariable logistic regression, surgery was associated with injection drug use (OR: 1.9; 95% CI:1.09-3. 3), indications for surgery (OR: 1.68; 95% CI:1.48-1.91), left-sided IE (OR: 2.14; 95%CI:1.43-3.19) and later years (OR:3.75; 95%CI:2.5-5.72). CONCLUSION: This study characterizes the predictors associated with surgical treatment and rates of inpatient mortality and readmission among IE patients across rural WV. The decision to perform cardiac surgery on IE patients is complex. Results with increased injection drug use-associated IE emphasize the importance of comprehensive care by a multidisciplinary team for optimal management of patients with IE.

Poverty and population health - The need for A Paradigm shift to capture the working poor and better inform public health planning.

BACKGROUND: Community-level socioeconomic disparities have a significant impact on an individual's health and overall well-being. However, current estimates for poverty threshold, which are often used to assess community-level socioeconomic status, do not account for cost-of-living differences or geography variability. The goals of this study were to compare geographic county-level overlap and gaps in access to care for households within poverty and working poor designations. METHODS: Data were obtained for 21 continental United States (US) states from the United Way's Asset Limited, Income Constrained, Employed (ALICE) households for 2021. Raw data contained the percentage of households at the federal poverty level, the percentage of households at the ALICE designations (working poor), and the total households at the county level. Local Moran's I tests for spatial autocorrelation were performed to identify the clustering of poverty and ALICE households. These clusters were overlaid with a 30-min drive time from critical access hospitals' physical addresses. FINDINGS: County-level clusters of ALICE (working poor) households occurred in different areas than the clustering of poverty households. Of particular interest, the extent to which the 30-min drive time to critical care overlapped with clusters of ALICE or poverty changed depending on the state. Overall, clustering in ALICE and poverty overlapped with 30-min drive times to critical care between 46 and 90% of the time. However, the specific states where disparities in access to care were prominent differed between analyses focused on households in poverty versus the working poor. INTERPRETATIONS: Findings highlight a disparity in equitable inclusion of individuals across the spectrum of socioeconomic status. Furthermore, they suggest that current public health programming and benefits which support low socioeconomic populations may be missing a vulnerable sub-population of working families. Future studies are needed to better understand how to address the health disparities facing individuals who are above the poverty threshold but still struggle economically to meet based needs.

Association Between All-Cause Mortality and High-Sensitivity Cardiac Troponin Concentrations in Patients With Chest Pain.

We assessed the association between troponin levels and all-cause mortality in individuals with chest pain who presented to the Charleston Area Medical Center Emergency Department (CAMC). We identified adult patients with chest pain as defined in the International Classification of Diseases 10 (R07) family group from the CAMC data warehouse between June 6, 2020, and June 6, 2021. These cases required a visit to the emergency room. We created 3 different cohorts to assess the endpoints of all-cause mortality at 30 days and 6 months. Patients were divided into the following 3 categories: negative troponin level, defined as high sensitivity troponin I (HSTNI) assay ≤15 pg/mL for women and ≤20 pg/mL for men; weakly positive, 21-88 pg/mL for men and 16-88 pg/mL for women; and strongly positive, >88 pg/mL for men and women. A propensity score matching analysis was also conducted using the negative group as a control; the weakly and strongly positive groups were compared to the control across differing cardiology covariates. This study introduces novel cutoffs for high-sensitivity troponin I (Beckman Coulter assay, Beckman Coulter, Inc., Chaska Campus, 1000 Lake Hazeltine Drive, Chaska, Minnesota 55318).

Successful Endovascular Treatment of an Anastomotic Pseudoaneurysm in the Ascending Aorta.

We present a case of a 72-year-old-male with an ascending aortic anastomotic pseudoaneurysm following Dacron graft repair of an iatrogenic ascending aortic dissection that occurred during an open mitral valve repair, which was successfully treated with endovascular graft placement. In conclusion, this uncommon finding demonstrates a complex pathology and additional clinical examples of the versatility of endovascular stent grafts within the ascending aorta.

Prevalence and Spatial Distribution of Gastroschisis in an Industrial Watershed.

The relationship between the congenital defect of gastroschisis and environmental toxins is poorly understood. We examined gastroschisis incidence, risk factors, and spatial association in a geographic region with known environmental pollution and hazardous waste sites. An observational study of fetal and neonatal gastroschisis diagnosed from 1/1/2006 to 12/31/2020 was conducted in a southern West Virginia (WV) tertiary care hospital. Emerging hot spot analysis and Ripley's K-Function examined the spatial relationship between gastroschisis cases and Environmental Protection Agency (EPA) Federal Registry Sites (FRS). A total of 63 gastroschisis cases provided a prevalence rate of 14.6 per 10000 live births. Gastroschisis was associated with younger maternal age, decreased pre-pregnancy BMI, and increased maternal tobacco use. Relative to FRS sites, spatial clusters were identified with emerging hot spot analysis. Observed Ripley K was higher at all measured bands. Results suggest a potential geographic association between gastroschisis cases and EPA-designated hazardous waste sites.

Impact of TAVR on patients with severe aortic stenosis and liver cirrhosis.

We sought to assess the impact of transcatheter aortic valve replacement (TAVR) on patients that have both severe aortic stenosis (SAS) and liver cirrhosis on mortality at 365 days after index event. We identified 19,210 patients that met inclusion criteria using the TriNetX database, consisting of data from 58 large healthcare organizations collected between 1 January 2010 and 24 February 2022. Of those patients, 1,283 (3.2%) had SAS with liver cirrhosis that had a TAVR, and 19,210 (96.8%) had SAS with liver cirrhosis that did not have a TAVR. We analyzed the data to compare all-cause mortality at 365 days using the TriNetX web platform. In addition, we conducted propensity score matching (PSM) to reduce the effects of confounders between the two groups. Patients with SAS and liver cirrhosis that had a TAVR were older (72.4 ± 9.7 vs. 68.0 ± 11.8, P < 0.001), and they had higher rates of heart failure (71.2 vs. 34.5%, P < 0.001), coronary artery disease (72.0 vs. 31.2%, P < 0.001), diabetes (52.5 vs. 41.2%, P < 0.001), and chronic kidney disease (43.8 vs. 30.1%, P < 0.001) compared with patients with SAS and liver cirrhosis without TAVR. PSM created two well-matched cohorts of 1,269 patients each. The TAVR group had a lower mortality rate compared with the no TAVR group (22.5 vs. 34.8%, P < 0.0001) at 365 days. This was confirmed using a log-rank test. Given these data, it appears that there is a mortality benefit associated with TAVR in patients with SAS and liver cirrhosis.NEW & NOTEWORTHY Risk calculators used to predict unfavorable surgical outcomes could flag a patient as ineligible for transcatheter aortic valve replacement (TAVR) based on the presence of liver cirrhosis. Our data analysis suggests that performing a TAVR to treat severe aortic stenosis in patients with liver cirrhosis could decrease their mortality risk as opposed to not performing a TAVR. Careful consideration should be given to this patient population to ensure the best quality of life and long-term outcome.

Wellens syndrome progressing from a very subtle type A to a classic type B Wellens pattern.

Wellens syndrome is a well-known clinical syndrome characterized by specific electrocardiographic (ECG) patterns that is usually suggestive of a critical proximal left anterior descending (LAD) coronary artery stenosis and requires early revascularization. There are two Wellens ECG patterns (A and B) described in the literature. It was suggested that Wellens syndrome can evolve from pattern A into pattern B, however, there is paucity of reported cases that described this phenomena. We report a case of Wellens syndrome that initially presented with very subtle ECG T wave changes suggestive of Wellens pattern A that progressed into classic pattern B with T wave inversions. A very low threshold of suspicion and serial ECGs were imperative to the early recognition of such a critical cardiovascular disease.

Long-Term Outcomes of Revascularization Compared to Deferral in Stable Coronary Artery Disease: a Review.

PURPOSE OF REVIEW: The aim of this study is assessing the long-term outcomes of revascularization compared to deferral in stable coronary artery disease with available literature. RECENT FINDINGS: The overall safety of stable coronary artery disease using IFR has been well established. There have been very few studies that have examined the safety of deferral of revascularization vs revascularization. As seen in listed literature, there appears to be no difference between revascularization compared to deferral in stable coronary artery disease.

Outcomes of Hospitalized Patients With Fecal Occult Positive Stool Prior to Cardiac Catheterization in Acute Coronary Syndrome (ACS).

Introduction Cardiac catheterization is an essential component of patient care in Acute Coronary Syndrome (ACS). Fecal occult blood testing (FOBT) has been used in the inpatient setting to evaluate the risk of bleeding with dual anti-platelet therapy prior to cardiac catheterization although no guidelines exist for this indication and FOBT testing in the inpatient setting is not recommended for evaluation of GI blood loss. We sought to assess the outcomes of patients with fecal occult positive stool prior to cardiac catheterization compared to those that did not undergo FOBT during admission for non-ST-elevation myocardial infarction (NSTEMI). Methods We identified patients between 18 and 90 years old with admission for NSTEMI in the Trinetx Research Network from January 1, 2019 to December 31, 2020. Patients were then divided into those who had an FOBT prior to cardiac catheterization and those that did not have an FOBT. We compared all-cause mortality, bleeding, troponin levels, and length of stay between propensity-matched (PSM) pairs of patients. Results We identified 46,349 that met inclusion criteria, of which 1,728 had an FOBT (3.7%) and 44,621 (96.3%) had no FOBT prior to cardiac catheterization. Patients in the FOBT group were older and had a higher prevalence of hypertension, coronary artery disease, heart failure, diabetes, chronic obstructive pulmonary disease, and higher BMI. Two well-matched groups of n=1,728/1,728 were used for comparing outcomes. The FOBT group had similar 30-day mortality (4.45% vs 4.01, P=0.56) as well as similar bleeding events (0.98% vs 0.69%, P=0.35). Troponin levels in the FOBT group were on average lower (0.41 vs 0.95, P=0.04). The FOBT groups also had a similar average length of stay of (14.1 days vs 14.2 days, P=0.42). 233 patients who received FOBT underwent endoscopic evaluation with either upper endoscopy or colonoscopy (13.5%), and there was no significant difference in 30-day mortality (6.86% vs 4.7%, P=0.321). Among patients who underwent endoscopy, 72 had some form of endoscopic intervention (30.9%). There was no difference in 30-day mortality between patients undergoing endoscopy with intervention and without intervention (14.49%/14.49%) P=1.00. Readmission was similar between patients undergoing endoscopy with and without intervention. Conclusions In a large multi-center national database, we observed similar outcomes in patients who were admitted with NSTEMI and had FOBT and those not receiving FOBT in terms of all-cause mortality and bleeding events. In patients with positive FOBT, endoscopy with and without intervention we observed no significant difference in 30-day mortality. We conclude that there is no compelling evidence for FOBT testing in patients with NSTEMI.

Risk of COVID-19 Infection After Full Immunization in Patients With Inflammatory Bowel Disease on Treatment: A Research Network Analysis.

BACKGROUND: Acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is an issue in treating patients with Inflammatory Bowel Disease (IBD) due to concerns for infection risk and poor post-vaccination antibody response. We examined the potential impact of IBD treatments on SARS-CoV-2 infection rates after full immunization against COVID-19. METHODS: Patients who received vaccines between January 2020 and July 2021 were identified. The post-immunization Covid-19 infection rate at 3 and 6 months was assessed in IBD patients receiving treatment. The infection rates were compared to patients without IBD.  Results: The total number of IBD patients was 143,248; of those (n=9405), 6.6% were fully vaccinated. In IBD patients taking biologic agents/small molecules, no difference in Covid-19 infection rate was found at 3 (1.3% vs. 0.97%, p=0.30) and 6 months (2.2% vs. 1.7%, p=0.19) when compared to non-IBD patients. No significant difference in Covid-19 infection rate was found among patients receiving systemic steroids at 3 (1.6% vs. 1.6%, p=1) and 6 months (2.6% vs. 2.9%, p=0.50) between the IBD and non-IBD cohorts.  Conclusions: The COVID-19 immunization rate is suboptimal among IBD patients (6.6%). Vaccination in this cohort is under-utilized and should be encouraged by all healthcare providers.