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Cureus May 2024Atrial myxomas are benign primary cardiac tumors. They can present with nonspecific symptoms, ranging from constitutional symptoms and embolic phenomena such as...
Atrial myxomas are benign primary cardiac tumors. They can present with nonspecific symptoms, ranging from constitutional symptoms and embolic phenomena such as transient ischemic attacks (TIAs) or strokes to sudden cardiac death. Early diagnosis may be a challenge due to the nonspecific presentation of atrial myxoma. A high degree of suspicion is needed in patients with TIA having no known cardiovascular risk factors. Although benign, if left untreated, it can lead to serious complications ranging from embolic phenomena and obstructive symptoms to sudden cardiac death. An echocardiogram is of fundamental importance in diagnosing atrial myxoma, and surgical resection is the ultimate treatment of choice. Here, we discuss a case of TIA as the initial presentation of atrial myxoma.
PubMed: 38919224
DOI: 10.7759/cureus.61082 -
Cureus May 2024Atypical aortic origin of coronary artery (AAOCA) is a rare heart condition that has been identified in only a few autopsy cases and in some patients who have undergone...
Atypical aortic origin of coronary artery (AAOCA) is a rare heart condition that has been identified in only a few autopsy cases and in some patients who have undergone angiographic evaluation. AAOCA is known to be closely linked with aortic valve malformations, with the most common type being the bicuspid aortic valve (BAV). A 77-year-old male with a medical history of hypertension and diabetes presented with dyspnea and orthopnea for three days. During the eventual cardiac catheterization, it was noted that the left coronary artery had an anomalous origin from the right side, coursing between the aorta and pulmonary artery. Contrast-enhanced computerized tomography (CECT) also showed a type 2 BAV and a left main coronary artery arising lower at the level of the pulmonary trunk. The dyspnea in this patient was attributed to diastolic dysfunction, and surgical correction of the coronaries was not done. The patient was managed on an outpatient basis for heart failure. In this case, the patient had an anomalous origin of the left coronary artery and type 2 BAV, which posed significant cardiovascular complications. It is unclear if the presence of the concomitant type 2 BAV led to the origin of the anomalous left coronary artery being at a lower level through its effect on the developmental mechanics. This lower origin may have resulted in lower compressive forces on the coronary artery as the inter-arterial pressures would be lower closer to the heart and farther from the lungs. Our case report aims to highlight this complex presentation where the BAV likely provides a benefit in AAOCA cases.
PubMed: 38919205
DOI: 10.7759/cureus.61136 -
BioRxiv : the Preprint Server For... Jun 2024-Related Dilated Cardiomyopathy (DCM) is an autosomal-dominant genetic condition with cardiomyocyte and conduction system dysfunction often resulting in heart failure...
-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-derived iPSC Differentiation Support Cell type and Lineage-specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.
-Related Dilated Cardiomyopathy (DCM) is an autosomal-dominant genetic condition with cardiomyocyte and conduction system dysfunction often resulting in heart failure or sudden death. The condition is caused by mutation in the Lamin A/C ( ) gene encoding Type-A nuclear lamin proteins involved in nuclear integrity, epigenetic regulation of gene expression, and differentiation. Molecular mechanisms of disease are not completely understood, and there are no definitive treatments to reverse progression or prevent mortality. We investigated possible mechanisms of -Related DCM using induced pluripotent stem cells derived from a family with a heterozygous splice-site mutation. We differentiated one mutant iPSC line derived from an affected female (Patient) and two non-mutant iPSC lines derived from her unaffected sister (Control) and conducted single-cell RNA sequencing for 12 samples (4 Patient and 8 Control) across seven time points: Day 0, 2, 4, 9, 16, 19, and 30. Our bioinformatics workflow identified 125,554 cells in raw data and 110,521 (88%) high-quality cells in sequentially processed data. Unsupervised clustering, cell annotation, and trajectory inference found complex heterogeneity: ten main cell types; many possible subtypes; and lineage bifurcation for Cardiac Progenitors to Cardiomyocytes (CM) and Epicardium-Derived Cells (EPDC). Data integration and comparative analyses of Patient and Control cells found cell type and lineage differentially expressed genes (DEG) with enrichment to support pathway dysregulation. Top DEG and enriched pathways included: 10 genes and RNA polymerase II transcription in Pluripotent cells (PP); and TGF Beta/BMP signaling, sarcomere gene subsets and cardiogenesis, and EMT in CM; and epigenetic regulation and and mTORC1 signaling in EPDC. Top DEG also included: and other X-linked genes, six imprinted genes: , , , , , , and enriched gene sets in metabolism, proliferation, and homeostasis. We confirmed Lamin A/C haploinsufficiency by allelic expression and Western blot. Our complex Patient-derived iPSC model for Lamin A/C haploinsufficiency in PP, CM, and EPDC provided support for dysregulation of genes and pathways, many previously associated with Lamin A/C defects, such as epigenetic gene expression, signaling, and differentiation. Our findings support disruption of epigenomic developmental programs as proposed in other disease models. We recognized other factors influencing epigenetics and differentiation; thus, our approach needs improvement to further investigate this mechanism in an iPSC-derived model.
PubMed: 38915555
DOI: 10.1101/2024.06.12.598335 -
Nature and Science of Sleep 2024Mental stress induced myocardial ischemia (MSIMI) is regarded as the primary cause of the angina with no obstructive coronary artery disease (ANOCA). Obstructive sleep...
PURPOSE
Mental stress induced myocardial ischemia (MSIMI) is regarded as the primary cause of the angina with no obstructive coronary artery disease (ANOCA). Obstructive sleep apnea (OSA) is autonomously linked to obstructive coronary heart disease, hypertension, and sudden cardiac death. Similar to the impact of psychological stress on the cardiovascular system, individuals with OSA experience periodic nocturnal hypoxia, resulting in the activation of systemic inflammation, oxidative stress, endothelial dysfunction, and sympathetic hyperactivity. The contribution of OSA to MSIMI in ANOCA patients is unclear. To explore the prevalence of OSA in ANOCA patients and the correlation between OSA and MSIMI, a prospective cohort of female ANOCA patients was recruited.
PATIENTS AND METHODS
We recruited female patients aged 18 to 75 years old with ANOCA and evaluated MSIMI using positron emission tomography-computed tomography. Subsequently, Level III portable monitors was performed to compare the relationship between OSA and MSIMI.
RESULTS
There is higher REI (7.8 vs 2.6, =0.019), ODI (4.7 vs 9.2, =0.028) and percentage of OSA (67.74% vs 33.33%, =0.004) in MSIMI patients. The patients diagnosed with OSA demonstrated higher myocardial perfusion imaging scores (SSS: 1.5 vs 3, = 0.005, SDS: 1 vs 3, P = 0.007). Adjusted covariates, the risk of developing MSIMI remained 3.6 times higher in OSA patients (β=1.226, OR = 3.408 (1.200-9.681), = 0.021).
CONCLUSION
Patients with MSIMI exhibit a greater prevalence of OSA. Furthermore, the myocardial blood flow perfusion in patients with OSA is reduced during mental stress.
PubMed: 38911317
DOI: 10.2147/NSS.S445219 -
Cureus May 2024Intramyocardial bridging (IMB) is a congenital anomaly characterized by the tunneling of a coronary artery segment through the myocardium, potentially leading to serious...
Intramyocardial bridging (IMB) is a congenital anomaly characterized by the tunneling of a coronary artery segment through the myocardium, potentially leading to serious cardiac complications, such as myocardial ischemia, infarction, and sudden death, challenging the traditional view of it being benign. A case involving a 42-year-old man with a seven-day history of atypical chest pain highlights the significance of considering IMB in the differential diagnosis. Despite normal troponin levels, creatine kinase (CK), CK-MB, D-dimer, a negative drug screen, a normal ECG, and chest X-ray and no apparent issues on echocardiogram, left heart catheterization revealed IMB in the left anterior descending artery. This case underscores the necessity of including IMB in the differential diagnosis for chest pain, particularly in young males with familial cardiovascular disease history. While noninvasive imaging methods are useful for diagnosis, coronary angiography is the definitive diagnostic tool. Treatment primarily involves beta-blockers and calcium-channel blockers, with revascularization as a secondary option for those unresponsive to medication.
PubMed: 38910665
DOI: 10.7759/cureus.60874 -
Circulation Journal : Official Journal... Jun 2024The incidence and prognostic predictors of heart failure (HF) without left ventricular systolic dysfunction (LVSD) in hypertrophic cardiomyopathy (HCM), particularly...
BACKGROUND
The incidence and prognostic predictors of heart failure (HF) without left ventricular systolic dysfunction (LVSD) in hypertrophic cardiomyopathy (HCM), particularly their differences in terms of developing LVSD (progression to end-stage) or sudden cardiac death (SCD), are not fully elucidated.Methods and Results: This study included 330 consecutive HCM patients with left ventricular ejection fraction (LVEF) ≥50%. HF hospitalization without LVSD and development of LVSD were evaluated as main outcomes. During a median follow-up of 7.3 years, the incidence of HF hospitalization without LVSD was 18.8%, which was higher than the incidence of developing LVSD (10.9%) or SCD (8.8%). Among patients who developed LVSD, only 19.4% experienced HF hospitalization without LVSD before developing LVSD. Multivariable analysis showed that predictors for HF hospitalization without LVSD (higher age, atrial fibrillation, history of HF hospitalization, and higher B-type natriuretic peptide concentrations) were different from those of developing LVSD (male sex, lower LVEF, lower left ventricular outflow tract gradient, and higher tricuspid regurgitation pressure gradient). Known risk factors for SCD did not predict either HF without LVSD or developing LVSD.
CONCLUSIONS
In HCM with LVEF ≥50%, HF hospitalization without LVSD was more frequently observed than development of LVSD or SCD during mid-term follow-up. The overlap between HF without LVSD and developing LVSD was small (19.4%), and these 2 HF events had different predictors.
PubMed: 38910134
DOI: 10.1253/circj.CJ-24-0049 -
Resuscitation Jun 2024During out-of-hospital cardiac arrest (OHCA), an automatic external defibrillator (AED) analyzes the cardiac rhythm every two minutes; however, 80% of refibrillations...
AIMS
During out-of-hospital cardiac arrest (OHCA), an automatic external defibrillator (AED) analyzes the cardiac rhythm every two minutes; however, 80% of refibrillations occur within the first minute post-shock. We have implemented an algorithm for Analyzing cardiac rhythm While performing chest Compression (AWC). When AWC detects a shockable rhythm, it shortens the time between analyses to one minute. We investigated the effect of AWC on cardiopulmonary resuscitation quality.
METHOD
In this cross-sectional study, we compared patients treated in 2022 with AWC, to a historical cohort from 2017. Inclusion criteria were OHCA patients with a shockable rhythm at the first analysis. Primary endpoint was the chest compression fraction (CCF). Secondary endpoints were cardiac rhythm evolution and survival, including survival analysis of non-prespecified subgroups.
RESULTS
In 2017 and 2022, 355 and 377 OHCAs met the inclusion criteria, from which we analyzed the 285 first consecutive cases in each cohort. CCF increased in 2022 compared to 2017 (77% [72-80] vs 72% [67-76]; P < 0.001) and VF recurrences were shocked more promptly (53 s [32-69] vs 117 s [90-132]). Survival did not differ between 2017 and 2022 (adjusted hazard-ratio 0.96 [95% CI, 0.78-1.18]), but was higher in 2022 within the sub-group of OHCAs that occurred in a public place and within a short time from call to AED switch-on (adjusted hazard ratio 0.85[0.76-0.96]).
CONCLUSIONS
OHCA patients treated with AWC had higher CCF, shorter time spent in ventricular fibrillation, but no survival difference, except for OHCA that occurred in public places with short intervention time.
PubMed: 38909837
DOI: 10.1016/j.resuscitation.2024.110292 -
Heart Rhythm Jun 2024The subcutaneous implantable cardioverter-defibrillator (S-ICD) has emerged as a feasible alternative for the transvenous ICD in the treatment of ventricular... (Review)
Review
The subcutaneous implantable cardioverter-defibrillator (S-ICD) has emerged as a feasible alternative for the transvenous ICD in the treatment of ventricular tachyarrhythmias in patients without pacing or cardiac resynchronization therapy indications. Since its introduction, numerous innovations have been made and clinical experience was gained leading to its adoption in current practice and preference in certain populations. Moreover, emerging technologies like the extravascular ICD or the combination of the S-ICD with the leadless pacemaker offer new possibilities for the future. These advancements underscore the S-ICD's evolving role in ventricular tachyarrhythmia management. This review outlines implantation considerations, patient selection and troubleshooting advancements in the last 15 years and also provides insights into future perspectives.
PubMed: 38908460
DOI: 10.1016/j.hrthm.2024.06.028 -
Journal of Forensic and Legal Medicine Jun 2024Sudden Cardiac Death (SCD) often shows negative anatomy results after a systemic autopsy and the gene mutations of potassium channel play a key role in the etiology of...
Sudden Cardiac Death (SCD) often shows negative anatomy results after a systemic autopsy and the gene mutations of potassium channel play a key role in the etiology of SCD. We established a feasible system to detect SCD-related mutations and investigated the mutations at KCNQ1 and KCNH2 genes in the Chinese population. We established a mutation detection system combined with multiplex PCR, SNaPshot technique, and capillary electrophoresis. We genotyped 101 putative mutations at KCNQ1 and KCNH2 genes in 60 SCD of negative anatomy and 50 controls using the established assay and compared Odd Ratio (OR). Four coding variants were identified in the KCNQ1 gene: S546S, I145I, P448R, and G643S. The mutations of I145I and S546S did not differ significantly in the SCD compared with controls. 21 SCD individuals (35 %) and 1 control individual (2 %) showed a genotype of C/G at P448R (OR = 17.5, 95 % CI [2.40-127.82]). 24 SCD individuals (40 %) and 1 control individual (2 %) showed a genotype of C/G at G643S (OR = 20.0, 95 % CI [2.75-145.25]). We established a robust assay for rapid screening the putative SCD-related mutations in KCNQ1 and KCNH2 genes. The new assay in our study is easily amenable to the majority of laboratories without the need for new specialized equipment. Our method will meet the increasing requirement of mutation screening for SCD in regular DNA laboratories and will help screen mutations in those dead of SCD and their relatives.
PubMed: 38908219
DOI: 10.1016/j.jflm.2024.102707 -
The American Journal of Hospice &... Jun 2024Implantable Cardioverter Defibrillators (ICDs) are used to prevent sudden cardiac death, but they may provide unwanted shocks during end-of-life care. We aimed to study...
Implantable Cardioverter Defibrillators (ICDs) are used to prevent sudden cardiac death, but they may provide unwanted shocks during end-of-life care. We aimed to study the frequency at which Do Not Resuscitate (DNR) discussions address ICD preferences in high-risk patients. A retrospective chart review was performed on patient hospitalizations with the presence of an ICD, a change in code status to DNR, and a subsequent death during that hospitalization. Data collected included demographics, significant comorbidities, if and when ICD was discussed, and who performed code status discussions, and were analyzed for statistical significance. 129 patients met study criteria, and 110 patients (85.3%) did not have a documented discussion addressing ICD deactivation. There were no statistically significant differences in patient characteristics between patients with ICD addressed or not addressed, nor were there differences noted between discussions performed by residents vs staff or with the presence of cardiology, critical care status, or with palliative care consultation. It was noted that specifically discussing intubation or cardioversion was associated with the discussion of ICD deactivation. ICD discussions were rarely documented in our high-risk population, highlighting a potential need for better in-chart visibility of ICDs and for focused education of clinicians who care for these patients at end of life.
PubMed: 38907688
DOI: 10.1177/10499091241264532