ABSTRACT
OBJECTIVES: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect in the United States. We aimed to identify genetic variations associated with TOF using meta-analysis of publicly available digital samples to spotlight targets for prevention, screening, and treatment strategies. METHODS: We used the Search Tag Analyze Resource for Gene Expression Omnibus (STARGEO) platform to identify 39 TOF and 19 non-TOF right ventricle tissue samples from microarray data and identified upregulated and downregulated genes. Associated gene expression data were analyzed using ingenuity pathway analysis and restricted to genes with a statistically significant (p < .05) difference and an absolute experimental log ratio >0.1 between disease and control samples. RESULTS: Our analysis identified 220 genes whose expression profiles were significantly altered in TOF vs. non-TOF samples. The most striking differences identified in gene expression included genes FBXO32, PTGES, MYL12a, and NR2F2. Some top associated canonical pathways included adrenergic signaling, estrogen receptor signaling, and the role of NFAT in cardiac hypertrophy. In general, genes involved in adaptive, defensive, and reparative cardiovascular responses showed altered expression in TOF vs. non-TOF samples. CONCLUSIONS: We introduced the interpretation of open "big data" using the STARGEO platform to define robust genomic signatures of congenital heart disease pathology of TOF. Overall, our meta-analysis results indicated increased metabolism, inflammation, and altered gene expression in TOF patients. Estrogen receptor signaling and the role of NFAT in cardiac hypertrophy represent unique pathways upregulated in TOF patients and are potential targets for future pharmacologic treatments.
Subject(s)
Heart Defects, Congenital , Tetralogy of Fallot , Humans , United States , Tetralogy of Fallot/genetics , Cardiomegaly , Receptors, Estrogen/genetics , Gene ExpressionABSTRACT
Purulent pericarditis due to Streptococcus pneumoniae (S. pneumoniae) has been increasingly rare since the advent of antibiotics; however, it still carries a high mortality rate, especially in the setting of tamponade. Bedside transthoracic echocardiogram (TTE) is a useful, cheap, and underutilized tool that can aid in the diagnosis, treatment, and further management of patients presenting to the emergency department with chest pain, as well as during cardiac resuscitation. In this report, we present a case of an acute purulent S. pneumoniae pericarditis of an unknown primary source in a patient coinfected with coronavirus disease 2019 (COVID-19) pneumonia, resulting in cardiac tamponade and cardiac arrest that resolved with the aid of bedside echocardiography-guided pericardiocentesis. We attempt to highlight the importance of clinicians using echocardiography to aid in their clinical decision-making, demonstrating it as a fast and effective tool capable of providing instantaneous feedback.
ABSTRACT
A newborn presented with tetralogy of Fallot (TOF), right aortic arch (RAA), and isolated left brachiocephalic artery. The RAA supplied the right common carotid artery, right vertebral artery, and right subclavian artery, in that order. The left common carotid and left subclavian arteries were in continuity with no aortic origin. Ultrasound demonstrated retrograde flow in the left vertebral artery supplying antegrade flow to the diminutive left subclavian artery (ie, "steal phenomenon"). The patient underwent repair of TOF without intervention on the left common carotid or left subclavian arteries and is being followed conservatively.
Subject(s)
Situs Inversus , Tetralogy of Fallot , Infant, Newborn , Humans , Tetralogy of Fallot/complications , Tetralogy of Fallot/diagnostic imaging , Tetralogy of Fallot/surgery , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/surgery , Subclavian Artery/diagnostic imaging , Subclavian Artery/surgeryABSTRACT
BACKGROUND: Subgroups of the general population including Hispanic/Latinx individuals report higher rates of COVID-19 vaccine hesitancy than non-Hispanic White individuals. The purpose of this study was to identify factors that influence attitudes toward COVID-19 vaccines among unvaccinated Hispanic adults utilizing a free community clinic in Orlando, Florida, USA. METHODS: From May 2021 to July 2021, we used convenience sampling to recruit 20 self-identified Hispanic adults who were unvaccinated to complete an individual, semi-structured interview. Interview questions were derived from constructs from the Health Belief Model. Interviews were audio-recorded, transcribed, translated (when necessary), and qualitatively analyzed using inductive content analysis to identify recurring themes. RESULTS: Of the 20 participants in this study, 65% were female (n=13) and they ranged from 21 to 73 years of age (median age =42.5). We identified three primary themes in participant responses regarding their beliefs about COVID-19 vaccines. Primary theme 1: trust and clarity of COVID-19 vaccine information, with subthemes (1a) source trustworthiness, and (1b) clarity of COVID-19 vaccine information. Primary theme 2: personal contextual factors, with subthemes (2a) underlying health conditions, (2b) personal experiences with COVID-19, and (2c) immigration. Primary theme 3: lack of confidence, yet willingness to be vaccinated, with subthemes (3a) fear and distrust and (3b) willingness to be vaccinated. In summary, participants felt hesitant, although not completely opposed, to receiving COVID-19 vaccinations due to the information they gathered on vaccines from various sources received in the context of important personal factors (e.g., immigration, underlying health concerns, etc.). CONCLUSIONS: Overcoming vaccine hesitancy in vulnerable populations such as the Hispanic communities may require addressing issues of message clarity through trusted sources while considering personal contextual factors. Healthcare professionals can begin by initiating discussions with patients to understand individual circumstances and concerns and provide information on COVID-19 vaccines that clarify areas of confusion.
ABSTRACT
A 13-month-old male sustained cardiac arrest under general anesthesia and was found to have left main coronary artery atresia with collateralization from the right coronary artery. After protracted recovery, the patient underwent coronary ostioplasty. Postoperative imaging confirmed patency of the newly established artery without stenosis. At 12 months, no changes in the vessel were noted. Ventricular function remains mildly decreased and stable.