Medicine and Health Sciences Commons^™

Characterizing Undiagnosed And Incident Stis In An Hiv Vaccine Trial Cohort In South Africa (Hvtn 702), Hermione Yamyo Monie, Adrienne Shapiro, Fatima Laher, Ayman Osman

Research Colloquium

Background: According to the World Health Organization (WHO), sub-Saharan Africa leads the world in incidence rates of chlamydia, gonorrhea, and trichomonas1. Sexually transmitted infections (STIs) are associated with reduced quality of life, neonatal deaths and increased disease susceptibility. Despite efforts in public health, among those with STIs, the risk of contracting HIV remains at an all-time high2.

The aim of this secondary analysis was to extrapolate the prevalence and incidence of STIs, within a cohort, as supporting evidence to guide future public health efforts and resources.

Methods This analysis was conducted as a cross-sectional and longitudinal examination of the data …

An Unusual Presentation Of Metastatic Keratinocyte Squamous Cell Carcinoma: A Case Report, Zayd M. Ayas, William Reckley, Kennedy Olson, Anthony Alanis, Alejandro Aquino, Andres Suarez

Research Colloquium

Background: Keratinocyte carcinomas include both basal cell carcinomas (BCC) and cutaneous squamous cell carcinomas (cSCC), with cSCC being the second most common skin cancer in the United States. cSCC typically presents as a rough, red, scaly plaque with central ulceration in sun-exposed areas and is most common in fair-skinned populations. cSCC, which represents up to 20% of all skin cancers, is the result of a neoplastic transformation of keratinocytes. Approximately 60% of cSCC cases developed from known actinic keratoses, which are precursor lesions with malignant potential. While most cases have an excellent prognosis following complete excision, approximately 3% of …

Investigating Neuropsychiatric Symptoms In Asian Subgroups With Dementia Using The National Alzheimer's Coordinating Center (Nacc) Database, Maria Sophia Zaraspe Malbas, Luis A. Peña Marquez, Ramya Kunta, Astrid-Ines Foamkom, Ney Alliey-Rodriguez

Research Colloquium

Background: The incidence of neuropsychiatric symptoms (NPS), such as agitation, depression, anxiety, irritability, and sleeping disturbances, is common among patients with dementia. These symptoms are commonly evaluated with the Neuropsychiatric Inventory Questionnaire (NPI-Q), a useful tool for studying changes in behavior associated with neurodegenerative disorders for the past couple of decades. Another database utilizing the NPI-Q to assess NPS is the National Alzheimer’s Coordinating Center (NACC) Database. This uniform data set aims to store participant information, including neuropsychological tests, demographic information, and medical health history, collected from Alzheimer’s Disease Centers across the United States. To date, no studies using the …

Breathe Easy: The Potential Of Vitamins As Adjunct Therapy In Asthma Management, Elena Dike, Alex Zuo

Research Colloquium

Asthma, a prevalent respiratory disease, imposes a heavy burden on patients and healthcare systems. This research poster reviews recent findings on the potential of Vitamins A, C and E as adjunct therapies in asthma management. Comprehensive searches in PubMed, the NIH and Google Scholar identify multiple relevant publications and articles. Key results indicate that Vitamin A reduces Th2/Th17 levels and ROS, protecting the airway epithelium; Vitamin C decreases inflammatory cells and increases cGMP levels, reducing airway hyper-reactivity; and Vitamin E reduces eosinophils, basophils and neutrophils while also reducing ROS. These findings suggest that increasing intake of these vitamins, under medical …

Targeting Ribosome Biogenesis Is A Novel Approach For The Management Of Pancreatic Cancer, Mudassier Ahmad, Haider Ahsan, Carlos Perez, Muhammad Bangash, Andrew Massey, Emmanuel Anning, Manish Tripathi, Dae Kim, Subhash C. Chauhan, Bilal Bin Hafeez

Research Colloquium

Pancreatic ductal adenocarcinoma is the third leading cause of cancer-related deaths in the United States with limited therapeutic options available. Gemcitabine, a deoxycytidine nucleoside analog is currently considered the most effective therapy for PanCa. However, it shows only a marginal survival benefit of six months. Aberrant ribosome biogenesis occurs in most tumor types. We observed that PanCa cells are addicted to ribosome biogenesis, which supports their highly aggressive metastatic phenotypes. Thus, strategically targeting ribosome biogenesis process could be one of the ideal strategies for the prevention and treatment of PanCa. In this study, we elucidated the molecular mechanisms of POLR1A …

Shining Light On The Invisible: Fluorescent Detection Of Reactive Oxygen Species, Alex Zuo

Research Colloquium

Background: Reactive oxygen species (ROS) are highly reactive molecules essential for various biological processes such as cell signaling and homeostasis. However, excessive ROS production leads to oxidative stress, contributing to diseases like cancer, neurodegenerative disorders, and cardiovascular conditions. Traditional ROS detection methods lack sensitivity, specificity, and real-time spatial-temporal resolution. Recently, fluorescent probes have emerged as powerful tools for detecting and visualizing ROS in biological systems. These probes emit fluorescence upon reacting with specific ROS, allowing precise localization and quantification. Understanding ROS fluctuations during hypoxia and reoxygenation is crucial, especially in skeletal muscle cells. This study explores the dynamics of ROS …

Concurrent Challenges: New-Onset Type 2 Diabetes And Invasive Pancreatic Adenocarcinoma: A Case Report, Abhishekh Pokhrel, Alexa Lissete Zarate, Sobia Hassan Memon, Everardo Cobos

Research Colloquium

Background: Pancreatic adenocarcinoma is a highly aggressive cancer with a five-year survival rate of about 10%, and is the third leading cause of cancer-related deaths in the United States. Approximately 53% of patients are diagnosed at stage IV, characterized by distant metastasis to common sites such as the liver and lungs. Liver metastases occur in 60-70% of metastatic cases, while lung metastases are seen in 10-15% of patients. The median survival for stage IV patients is typically around 3 to 6 months, with current treatments primarily focused on palliation. Advances in chemotherapy offer modest survival benefits, but early detection and …

Therapeutic Potential Of Niclosamide Piperazine And Niclosamide Ethanolamine O-Alkyl Tethered Derivatives In Cancer Treatment, Jihoo Woo, Fernando Cisneros, Shizue Mito, Benjamin Valdivia

Research Colloquium

Background: Niclosamide (5-Chloro-N-(2-chloro-4-nitrophenyl)-2-hydroxybenzamide exhibits promising potential in cancer treatment through its exogenous mitochondrial uncoupling mechanism. However, it faces challenges due to its limited oral bioavailability, attributed to its hydrophobic nature [1]. Recent studies have highlighted derivatives such as Niclosamide Ethanolamine (NEN: N-(2-Hydroxyethyl)-5-chloro-N-(2-chloro-4-nitrophenyl)-2-hydroxybenzamide) [3][2] and o-alkyl amino-tethered NIC [4] may offer enhanced efficacy and reduced toxicity in cancer therapeutics. However, the Niclosamide Piperazine (NPP: 4-[(5-Chloro-2-hydroxyphenyl)carbamoyl]-N-(2-chloro-4-nitrophenyl)piperazine) and NEN salt derivatives, has not been as extensively explored despite having better bioavailability than Niclosamide.

Method: This research aims to analyze the efficacy of two proposed compounds NPP and …

Unexpected Biliary Duct Dilation, A Wise Decision-Making Case., Mario A. Trujillo, Mathew R. Peynado, Muhammad Ali Siddiqui, Laura P. Ackerman

Research Colloquium

Background: Common bile duct dilation is expected in certain healthy populations with specific factors like age or post procedure status. When a size larger than expected is found in an acute setting further investigation is required. In the setting of acute abdominal pain in a patient with past medical history of cholelithiasis, the study protocol for patients with more than expected enlarged common bile duct and no apparently underlying disease in the biliary tree is not well elucidated.

Case: A 68-year-old female with past medical history but not limited to cholelithiasis, hypertension, type 2 diabetes mellitus, end stage renal …

Racial Differences And Anatomical Risk Factors In Narrow Angle Glaucoma: Insights From Ultrasound Biomicroscopy, Michael Tran, Karanjit Kooner, Juan C. Lopez-Alvarenga, Ibrahim Saleh, Suyash Jain, Jefferey Hernandez

Research Colloquium

Background: Glaucoma encompasses a range of diseases characterized by optic disc cupping resulting from the degeneration of retinal ganglion cells and optic nerve axons, leading to vision loss. Narrow-angle glaucoma (NAG) occurs when there is appositional or synechial closure of the angle between the iris and cornea, which can obstruct the outflow of aqueous humor, resulting in increased intraocular pressure (IOP) that damages the optic nerve. This study aims to investigate the relationships between patient demographics, lens vault, and anterior chamber angle measurements among patients with anatomic narrow-angles (ANA) or primary angle-closure suspect (PACS) using Ultrasound Biomicroscopy (UBM).

Methods: This …

Viral Party Gone Wrong: Polyviral Pericarditis Masquerading As Gastritis, Maria Eugenia Torres Perez, Joan Beatrice Capellan, Deanna Yamamura

Research Colloquium

Background: Acute pericarditis is a rapid inflammatory condition of the pericardium with both infectious and non-infectious etiologies. Diagnosis is usually based on clinical criteria with typical symptoms including chest pain that worsens with deep inspiration and decreases by leaning forward, and distinctive electrocardiographic changes. Pericarditis is typically self-limiting however, complications like pericardial effusion and cardiac tamponade may arise.

Case presentation: A 31-year-old male presented to the emergency department due to severe epigastric pain radiating to the right upper abdomen; the pain was associated with subjective fever and inability to eat due to its severity. His physical exam revealed tachycardia …

Breaking Boundaries: Unveiling A Cardiac Fistula From The Right Coronary Artery To The Sinus Venosus And From The Sinus Venosus To The Left Subclavian; A Singular Encounter, Maria Eugenia Torres Perez, Carlos Luis Alejos, Jose Romeo Villareal Calderon, Jennifer Rojas Huen, Kamesh Sivagnamam

Research Colloquium

Introduction: Coronary artery fistulas are rare congenital or acquired malformations in the coronary circulation, creating abnormal connections between coronary arteries and heart chambers (coronary-cameral fistulas) or systemic/pulmonary vessels (coronary arteriovenous malformations). Although often asymptomatic and discovered incidentally during coronary catheterization, they can lead to life-threatening complications such as congestive heart failure, myocardial infarction, and pulmonary hypertension.

Case presentation: A 47-year-old patient with hypertension, multiparity and previous history of a large pericardial effusion with cardiac tamponade managed with pericardiocentesis and medical management presented to the emergency department one year after her pericardiocentesis complaining of shortness of breath (SOB) and upper back …

Obsessive Compulsive Disorder And Other Specified Anxiety Disorder In An 8-Year-Old Post-Respiratory Infection: A Case Report, Michael Tran, Alcides Amador, Sofia Camacho Bermudez

Research Colloquium

Background: This case report presents the diagnosis and management of Obsessive Compulsive Disorder (OCD) and Other Specified Anxiety Disorders in an 8-year-old male. The importance lies in the development of psychiatric symptoms after multiple respiratory infections and the subsequent diagnosis of Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). It highlights a potential connection between infections and psychiatric manifestations in pediatric patients. PANDAS is an immune-mediated neuropsychiatric disorder that occurs after a Group A Strep (GAS) infection, characterized by the sudden onset or worsening of obsessive-compulsive disorder and tic disorder. While pathophysiology is not fully understood, evidence indicates that …

Tc-Ptp-Mediated Regulation Of P38 Mapk Signaling Pathway Promotes Uvb-Induced Apoptosis In Skin, Lindsey Shim, Jose Delgado, Bilal B. Hafeez, Dae Joon Kim

Research Colloquium

Background: T-cell protein tyrosine phosphatase (TC-PTP) is a non-receptor PTP that has been shown to have various roles in signaling pathways. Our previous studies have demonstrated that the TC-PTP deficiency in the epidermis can exacerbate hyperplastic response by inducing epidermal cell proliferation in response to tumor promoter TPA or UVB exposure. This implies that TC-PTP plays a tumor-suppressive role in the epidermis and provides protection against UVB radiation, which is well known to contribute to skin cancer development. The p38 mitogen- activated protein kinase (MAPK) is one of serine/threonine kinases that are activated through environmental stress including UVB. It has …

Can Zinc Reduce The Disease Burden Of Diabetes Mellitus?, Ronald Shaju, Rahnuma Ahmad, Mohammed S. Razzaque

Research Colloquium

Background: Diabetes mellitus is a prevalent chronic metabolic disorder characterized by hyperglycemia. Traditionally, this disease is managed with medication and dietary modifications. However, recent studies have shown the potential role of zinc in diabetes management. We explained the complex interplay between zinc deficiency, impaired glucose metabolism, and the progression of diabetes to elucidate the potential therapeutic benefits of zinc supplementation.

Methods: A comprehensive literature search using databases such as Google Scholar, PubMed, and Scopus was conducted to identify relevant studies published between November 2023 and February 2024. Keywords such as ‘zinc in diabetes mellitus,’ ‘zinc supplementation,’ ‘zinc deficiency,’ and ‘diabetic …

Enhancing Diagnostic Confidence: The Impact Of Ultrasound Training On Family Medicine Residents, Rachel E. Salinas, Juan Carlos Lopez Alvarenga

Research Colloquium

Objective: The musculoskeletal evaluation is a vital part of the physical exam for physicians. Imaging modalities are frequently used to aid in the diagnosis and treatment of various musculoskeletal pathologies, and of these modalities, point of care ultrasound is quickly gaining popularity as part of the musculoskeletal exam due its accessibility, cost effectiveness, and This project was created to increase the exposure of family medicine residents to point of care ultrasound in conjunction with specialist supervision, and use of Sonosim, an ultrasound training software, with the aim of increasing residents’ comfort level using this imaging modality.

Methods: Surveys were collected …

Characterization Of Peripheral Neuropathy In Hiv-1 Transgenic Rats, Jose Rios, Sophia Leslie, Mahmoud Youssef, Hiram Garcia, Justin Mills, Maria Sophia Malbas, Joshua Nwose, Briana Garcia, Zayd Ayas, Emmanuel Franco, Khalid Benamar

Research Colloquium

In 2021, an estimated 38.4 million people were living with Human immunodeficiency virus-1 (HIV). While the introduction of antiretroviral therapies (ART) has dramatically improved the length of survival of individuals, peripheral neuropathy still affects as many as 50% of HIV-infected individuals. The most frequently reported clinical manifestation of HIV-associated peripheral neuropathy is distal sensory polyneuropathy (HIV-DSP), and it is one of the most common neurologic complications of HIV in the combination antiretroviral therapies (cART) era. Despite these gaps in knowledge, no small animal model mimics peripheral neuropathy in PLWH, and the ART era is available. The main goal here is …

Stealthy Intrusion: Multivalve Culture-Negative Infective Endocarditis, Jennifer Rojas Huen, Carlos Luis Alejos Aguero, Duc Khiem Ngo, Maria E. Torres Perez

Research Colloquium

Introduction: Infective endocarditis (IE) typically targets a single valve, with involvement of more valves being rare. Timely targeted therapy hinges on identifying the responsible microorganism through blood culture. However, blood culture-negative endocarditis (BCNE), representing 5% of all endocarditis cases, poses diagnostic challenges and is associated with higher long-term mortality rates compared to blood culture-positive endocarditis (BCPE).

Case Presentation: A 53-year-old male with a history of congestive heart failure (CHF), end stage renal disease on peritoneal dialysis, and 30- years of cocaine use presented with an abnormal echocardiogram. The patient reported a two-week history of chills, sweat, generalized weakness, and exertional …

Silent Threat: Navigating The Complex Presentation Of Severe Coronary Artery Disease Despite Symptom Relief, William Reckley, Kennedy Olson, Roy Kondapavuluru, Yareli Durazo, Andrez Suarez, Michael Balderas

Research Colloquium

Introduction: Coronary artery disease (CAD) is the leading cause of morbidity and mortality in the United States (reference). This disease most commonly manifests as chest pain; however, there is a broad range in the presentation of acute coronary syndrome, as some studies have suggested that more than 25% of all diagnosed myocardial infarctions have been clinically silent. Due to the lack of correlation between the seriousness of the disease and the intensity of symptoms, there are specific protocols that have been developed to help providers manage patients with acute chest pain appropriately. We present a patient with acute chest pain …

Microglia In Post-Mortem Hippocampal Brain Tissue Of Male And Female Neonates After Hie, Kassandra M. Pulido, Angela N. Viaene, Amelia J. Eisch, Danielle G. Barber

Research Colloquium

Background: Hypoxic-ischemic encephalopathy (HIE) is the second-leading cause of neonatal morbidity and mortality worldwide. There are sex differences in the pathophysiology of HIE, particularly in microglia, which are critical in the immune response. Prior work highlights microglial aggregation in the hippocampus of human infants as a marker for HIE, but it is unknown whether this differs by sex.

Aim: We compare the microglial response in post-mortem hippocampal tissue from male and female neonates diagnosed with HIE vs. Controls who expired from other causes.

Methods: Using a retrospective cohort design, we reviewed medical records of neonates with hippocampal tissue in the …

Houston, We Have A Problem: Diagnostic Difficulties In The Aids Patient With Tuberculosis Infection, Hector D. Preciado, Maria E. Torres, Muhammad A. Siddiqui, Liza Salloum, Lee Gelpi, Jose E. Campo Maldonado

Research Colloquium

Background: Tuberculosis (TB) is the leading cause of infectious death worldwide with 1.5 million deaths annually and nearly 1/4th of the world’s population (1.7 billion) infected with latent tuberculosis infection (LTBI) in 2014. Its diagnosis conventionally relies on tuberculin skin testing (TST), and Interferon-Gamma Release Assay (IGRA) which relies on the production of Interferon Gamma (IFN-y) in response to Mycobacterium tuberculosis (MTB) specific antigens. IGRA is a useful tool for detecting latent TB disease, and can be used as an adjunct for the diagnosis of active TB cases. Increases in IFN-y levels might support the diagnosis of a new TB …

Comorbidity Of Mood Disorders And Upper Airway Resistance Syndrome: A Case Report, Abhishekh Pokhrel, Alexa Lissete Zarate, Alcides Amador

Research Colloquium

Background: The comorbidity of mood disorders and Upper Airway Resistance Syndrome (UARS) presents a significant challenge, especially in pediatric populations. UARS, characterized by increased upper airway resistance during sleep, often leads to disrupted sleep and daytime symptoms such as fatigue and cognitive impairment. Studies estimate UARS affects 15-30% of patients undergoing polysomnography for suspected sleep-disordered breathing. Mood & Anxiety Disorders are prevalent in patients with sleep-disordered breathing, with higher rates than in the general population.

Case Presentation: 16-year-old female, with psychiatric history of Bipolar II Disorder current episode depressed, ADHD, and Other Specified Anxiety Disorder presents for a follow-up. Since …

Keeping People Out Of The Emergency Room: Will Education Of Clinic Patients On Intra-Facility Resources Decrease Unnecessary Er Visits?, Angelo Joseph G. Pascasio, Juan C. Lopez Alvarenga, Carolina Gomez

Research Colloquium

Emergency rooms are often used as a safety net for patients unable to see their primary care doctor. Past studies have shown that urgent care centers and extended clinic hours proximal to ERs can decrease the financial and resource burden placed on hospitals. By increasing hours of the facilities associated with Knapp Medical Center, including the UTRGV-Knapp Family Medicine clinic in Mercedes and the Mid-Valley Urgent Care, it is predicted that less emergent cases can be handled in the outpatient setting thus giving patients peace of mind that their needs will be met rather than going to an emergency room. …

Navigating Economic Constraints In The Management Of Hfref - A Case Study Of An Uninsured Patient, Vamsikalayan Borra, Diana Othon Martinez, Barbara Malaga-Espinoza, Martha Solis, Nestor Gerardo Astorga, Prakhar Jain, Cesar Gutierrez

Research Colloquium

Background: Heart failure (HF) is a significant health concern, resulting in more than 500,000 new cases, 1.9 million hospitalizations, and a cost of $31 billion in the US. HF treatment aims to decrease hospitalizations, improve quality of life, and extend survival through GDMT. Social determinants of health (SoDH) have been associated with poor outcomes and higher readmission rates in HF patients. Addressing SoDH is crucial for achieving health equity and improving overall population health outcomes, per the CMS Framework for Health Equity 2022-2023. In the Rio Grande Valley, immigration is a common SoDH. It is estimated that 100,000 people are …

Heart Failure In The Setting Of Cocaine Abuse… Cause Or Progression? A Case Report., Diana Othon Martinez, Kashif Ali, Elimar Gonzalez Morales, Barbara Malaga-Espinoza, Jian Garcia, Cesar Gutierrez

Research Colloquium

Background: 1 out of 3 substance abuse emergency department visits are related to cocaine. In the US (United States), >5.5 million people consume cocaine. Hospitalizations for heart failure have a similar amount, with 5.7 million. Cocaine's cardiovascular adverse effects arise secondary to sympathetic nervous system stimulation, including decreased myocardial oxygen supply, coronary vasoconstriction, acceleration of atherosclerosis and thrombus formation. Studies have demonstrated contradictory information regarding cardiac anatomical changes (dilation/hypertrophy) secondary to chronic cocaine use. Cocaine cessation and guideline- directed medical therapy (GDMT) for HF are mainstay management. We present a case of a patient with HF and cocaine abuse.

Case …

Increasing Referrals To Local Resources For The Treatment Of Aud By Increasing Audit-C Usage By Increasing Awareness Of Aud Through Use Of Educational Materials ​, David Ortiz, Gerardo Munoz Monaco

Research Colloquium

Background: One in nine people will suffer from alcohol use disorder, if of legal drinking age. One in nine of our patients might suffer from AUD. Among those suffering from AUD, only 1.6% were found to be treated with evidence-based medications for treatment of AUD. Underdiagnosing may be a reality.

Methods: Evaluate physicians-in-training knowledge regarding AUD at time zero and after 3 months after an educational presentation is giving containing information on AUD diagnosis, treatment, and available local resources. This repeated cross-sectional data analysis aims to increase screening using the AUDIT-C tool, as well as referral/utilization to local resources. Patients …

Unmasking Atrial Flutter In An Elderly Patient With Complex Cardiac History: A Case Report On Diagnostic Challenges And Effective Management, Cesar F. Ortega, Roy Kondapavuluru, Nida Asif, Johanne Chaglasian, Fatimah Bello

Research Colloquium

Introduction: About 200,000 new patients each year are affected by atrial flutter. It is an abnormal cardiac rhythm characterized by rapid regular atrial depolarizations at a rate of approximately 300 beats/minute and a regular ventricle rate of about 150 beats/minute. It can go undiagnosed because it is often asymptomatic and usually diagnosed when patients are being evaluated for other health issues. This case report emphasizes the importance of thorough evaluation of symptoms suggestive of arrhythmia even if they occur intermittently.

Case Presentation: An 81-year-old lady with history of coronary artery disease, status post coronary artery bypass graft, valvular heart disease …

Comprehensive Diagnosis And Management Of Renal Tubular Acidosis Type 1: A Case Report, Cesar F. Ortega, Roy Kondapavuluru, Johanne Chaglasian, Nida Asif, Fatimah Bello

Research Colloquium

Introduction: Renal tubular acidosis type 1 (RTA type 1), also known as distal renal tubular acidosis, is a disorder characterized by the inability of the distal nephron to secrete hydrogen ions and reabsorb bicarbonate (HCO3-) in the presence of metabolic acidosis, leading to a chronic state of metabolic acidosis with a normal anion gap. This disorder has an estimated prevalence of 0.46- 1.60 per 10,000 people. RTA type 1 can often go undiagnosed in hospital settings due to its nonspecific presentation, such as weakness, fatigue or cramps, causing physicians to focus on empirically correcting low electrolyte levels rather than investigating …

Cocaine-Induced Left Ventricular Apical Aneurysm: A Case Report, Kennedy Olson, William Reckley, Roy Kondapavuluru, Oliverio Abarca, Yareli Durazo, Andres Suarez Parraga

Research Colloquium

Introduction: Cocaine, a significant source of morbidity and mortality in the United States, is one of the most frequently consumed recreational substances worldwide. Long-term use of cocaine is known to cause irreversible cardiotoxic effects, such as structural damage to the heart, electrical irregularities, diastolic heart failure, and myocardial infarctions. Cocaine-induced cardiomyopathy is associated with concentric ventricular hypertrophy alongside decreased ventricular compliance. However, recent research has hypothesized that patients who already have symptomatic cardiovascular disease are at an increased risk of developing an impairment in systolic ventricular function following chronic cocaine use, which is hypothesized to be caused by either direct …

Unraveling Dilated Cardiomyopathy Linked To An Enigmatic Mybpc3 Variant, Khiem D. Ngo, Carlos Alejos, Jennifer Rojas, Sobia Memon, James Stone

Research Colloquium

Background: Non-ischemic cardiomyopathy (NICM), can arise from various causes, including hemodynamic pathology, infections, immunologic abnormalities, toxic injuries, and genetic factors. Determining the prevalence of NICM is challenging due to varying definitions and diagnostic criteria, selection bias, and geographic variation. MYBPC3 is the primary gene known to cause restrictive cardiomyopathy, dilated cardiomyopathy, and left ventricular non-compaction. This gene encodes cMyBP-C, a structural protein of the heart muscle that interacts with actin, myosin, and titin to maintain sarcomeric integrity. While loss-of-function mutations are common, MYBPC3 missense variants of uncertain significance (VUS) are also prevalent. Individuals with MYBPC3 missense VUS predicted to disrupt …