Cardiovascular Diseases Commons^™

Case Report: Pulmonary Infarction Following Recent Pulmonary Embolism, David Marconi, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

A 57-year-old man with chronic obstructive pulmonary disease (COPD), obstructive sleep apnea, and a recent pulmonary embolism (PE) on anticoagulation presented with acute pleuritic chest pain and worsening dyspnea. Computed tomographic angiography (CTA) of the chest revealed a small distal segmental PE in the left lower lobe and an adjacent irregular consolidation, raising concern for pulmonary infarction versus pneumonia. The patient was empirically started on antibiotics for possible pneumonia and admitted for anticoagulation and supportive care. He left the hospital against medical advice (AMA) before completing treatment, but returned days later with exacerbated symptoms. This case highlights the diagnostic challenge …

Tricyclic Antidepressant (Tca) Overdose Causing Diffuse Alveolar Hemorrhage: A Case Report, Md Fateha, Jose Aragon, Joan Wiley

Rowan-Virtua Research Day

Tricyclic antidepressant (TCA) overdose is an uncommon complication that results from excessive administration of TCAs. Signs and symptoms include bradycardia, fever, dry mouth, and altered mental status. Patients can develop cardiac arrhythmia and diffuse alveolar hemorrhage, which can be fatal. This case report details a 65-year-old female who experienced a suspected TCA overdose as a suicide attempt. She had a history of depression and a previous suicide attempt. The patient was unresponsive with declining oxygen saturation, necessitating emergent intubation. Important lab findings included a decreased partial pressure of oxygen to fraction of inspired oxygen ratio (P/F ratio) and prolonged QRS …

Assessing The Safety And Effectiveness Of Endovascular Treatment Vs. Surgical Repair Of Aortic Aneurysms In Patients With Marfan Syndrome: A Literature Review, Noor Baig, Zainab Mubasher, Nassos Tziviskos, Joseph Pernini, Marcus Fariello, Ryan Hickey

Rowan-Virtua Research Day

Background: This review compares the safety and effectiveness of thoracic endovascular aortic repair (TEVAR) versus open surgical repair in patients with Marfan Syndrome (MFS) and thoracic aortic aneurysms. We assessed differences in mortality, length of hospital stay, renal impairment, and stroke incidence between the two techniques. Currently, open surgical repair is the gold standard treatment.

Hypothesis: As the gold standard treatment, we expect open surgical repair to have more favorable outcomes than TEVAR.

Methods: A systematic literature search was performed using studies from 2000-2024 across PubMed, Scopus, Embase, Cochrane, and Web of Science. Studies were included if they involved adult …

Preliminary Assessment For Quality Improvement Of Hypertension Management In Kenya, Shubhangi Singh

Honors Theses

Hypertension is a leading contributor to cardiovascular disease (CVD) morbidity and mortality worldwide, with a disproportionate burden in low- and middle-income countries (LMICs). Despite relatively low rates of common behavioral risk factors, the Kasigau region of Kenya experiences high prevalence of hypertension and hypertension-related complications. This study explores self-efficacy, health beliefs, and management behaviors among adults in Kasigau to provide pilot quality improvement data for providers and future intervention planning. A cross-sectional, randomized survey of 45 adults was conducted at the Bughuta Clinic in southeastern Kenya. Participants completed a five-question hypertension-specific, self-efficacy assessment and a health belief model-based survey, with …

Explainable Ai (Xai) For A Machine Learning Heart Disease Prediction Model, Sai Abhishek Sanchula

Electronic Theses, Projects, and Dissertations

Cardiovascular diseases (CVDs) remain the leading cause of mortality worldwide, necessitating the development of accurate and interpretable machine learning (ML) models for early diagnosis and risk assessment (World Health Organization, 2021). While ML algorithms such as logistic regression, decision trees, support vector machines (SVM) (Cortes & Vapnik, 1995), and deep learning models (LeCun et al., 2015) have demonstrated high predictive accuracy, their adoption in clinical practice is hindered by their black-box nature (Rudin, 2019). Explainable AI (XAI) techniques, including SHapley Additive Explanations (SHAP) (Lundberg & Lee, 2017), Local Interpretable Model-agnostic Explanations (LIME) (Ribeiro et al., 2016), and feature importance analysis …

Managing Cardiovascular Health In The Hispanic Community: Implementing The Share Approach At A Primary Care Clinic, Jacqueline Molina

Doctor of Nursing Practice Final Project Abstract

Purpose: The purpose of this project was to determine the effectiveness of the Seek, Help, Assess, Reach, and Evaluate (SHARE) approach in the management of cardiovascular disease (CVD) risk factors in the Hispanic population at a primary care clinic while improving health literacy. The aim was that by February 2025, Hispanic patients at the clinic would achieve a 10% reduction in CVD risk factors.

Background: The project was implemented at a small private primary care clinic in Texas. CVD risk factors prevalent include hypertension, mixed hyperlipidemia, and diabetes mellitus.

Methodology: Before implementation provider and staff were educated on the SHARE …

The Dynamic Role Of Hyaluronan In Acute Cardiac Wound Healing., Danielle T. Little

Electronic Theses and Dissertations

During acute myocardial infarction (MI), the composition of the extracellular matrix (ECM) undergoes significant changes. While collagen accumulation is one of the most well-documented ECM alterations, hyaluronan (HA) is equally abundant. However, the cellular sources, enzymatic regulation, and functional significance of HA accumulation remain largely unexplored. Here, we hypothesized that activated cardiac fibroblasts produce HA via hyaluronan synthase 2 (HAS2), facilitating scar formation and stability. Our findings demonstrate that HA accumulates post-MI and persists for at least four weeks. Through HA sizing techniques, we determined the molecular weight of this persistent HA. Additionally, RNA sequencing analysis of failing human hearts …

The Role Of Tgfβ-Activated Kinase 1 In Fibroblast Differentiation And Cardiac Remodeling After Injury., Daniel Chien Nguyen

Electronic Theses and Dissertations

Immediately following myocardial injury, a robust reparative response is orchestrated through intercellular communication. While various cell populations play critical roles in this process, cardiac fibroblasts have long been recognized as essential mediators of collagen synthesis and scar maturation; however, recent investigations have uncovered significant heterogeneity within the cardiac fibroblast population, revealing distinct subpopulations with roles that extend beyond their traditional functions. Notably, after tissue injury, fibroblasts exposed to damage signals can transition to an inflammatory phenotype, utilizing paracrine and autocrine signaling to coordinate immune cell recruitment and activation. Yet, the mechanisms underlying inflammatory cardiac fibroblast differentiation and their influence on …

A Case Of A Massive Right Atrial Thrombus Removal Under Transesophageal Echocardiographic Guidance, Justin Phillips, Max Kabolowsky, Alex M. Hendon, Samantha Arzillo

HCA Healthcare Journal of Medicine

Background

With the advent of catheter guided interventions, practitioners have added another tool alongside chemical lysis and surgical removal to reduce the clot burden of patients with large emboli and thrombi. Due to comorbid conditions, many patients are poor candidates for surgical or chemical clot treatment but may present optimally for catheter-based thromboembolectomy. In this case, we highlight the benefits of mechanical thrombectomy with transesophageal echocardiographic guidance to reduce the clot burden of a patient who would otherwise be considered a poor candidate for surgical or chemical treatment.

Case Presentation

This case follows a 78-year-old man with a past medical …

A Comparative Study Of Obesity-Related Traits And Serum Lipid Parameters In Cardiovascular Patients From Faisalabad, Pakistan, Muhammad Umer Ghori, Muhammad Shareef Masoud, Muhammad Shafique, Humera Fiaz, Misbah Hussain, Fazli Rabbi Awan

Makara Journal of Health Research

Background: Obesity and dyslipidemia are significant risk factors for cardiovascular disorders (CVDs), yet have not been extensively studied in Pakistani subjects. Therefore, this retrospective observational study was undertaken to investigate the association of obesity-related traits and serum lipid parameters in CVD patients from Faisalabad, Pakistan.

Methods: A total of 403 CVD patients and 226 healthy controls were included. CVD patients were enrolled from the Allied Hospital and the Faisalabad Institute of Cardiology. Obesity-related traits [body mass index (BMI), waist and hip circumference (WC and HC), and waist-to-hip ratio (WHR)], serum lipid parameters, and blood pressure of all subjects …

Comparison Of Outcomes Among Neurovascular Patients Managed In Dedicated Neurological Intensive Care Units Vs. General Intensive Care Units, Joanna Roy, Basel Musmar, Nassos Tziviskos, Saarang Patel, Roberto Deleon, Ashley Thommana, Shady Mina, Stavropoula Tjoumakaris, Michael Gooch, Robert Rosenwasswer, Pascal Jabbour

Department of Neurosurgery Faculty Papers

Background/Objectives: Patients with neurovascular conditions often require multidisciplinary management to optimize recovery. Our systematic review identifies literature comparing outcomes among neurovascular patients managed at dedicated neurological intensive care units (ICUs) compared to general ICUs. Methods: PubMed was searched to identify articles that reported outcomes among patients managed at dedicated neurological ICUs versus general ICUs. Articles that reported outcomes among patients with neurovascular conditions were included. Articles that reported outcomes among patients managed at stroke units were excluded. The Newcastle Ottawa Scale (NOS) was used to assess for risk of bias across individual studies. Results: After a title and abstract screen …

Design And Structural Basis Of Selective 1,4-Dihydropyridine Inhibitors Of The Calcium-Activated Potassium Channel KCa3.1, Seow Theng Ong, Young-Woo Nam, Joshua A. Nasburg, Alena Ramanishka, Xuan Rui Ng, Zhong Zhuang, Stephanie Shee Min Goay, Hai M. Nguyen, Latika Singh, Vikrant Singh, Alicia Rivera, M. Elaine Eyster, Yang Xu, Seth L. Alper, Heike Wulff, Miao Zhang, K. George Chandy

Pharmacy Faculty Articles and Research

The 1,4-dihydropyridines, drugs with well-established bioavailability and toxicity profiles, have proven efficacy in treating human hypertension, peripheral vascular disorders, and coronary artery disease. Every 1,4-dihydropyridine in clinical use blocks L-type voltage-gated calcium channels. We now report our development, using selective optimization of a side activity (SOSA), of a class of 1,4-dihydropyridines that selectively and potently inhibit the intermediate-conductance calcium-activated K+ channel K_Ca3.1, a validated therapeutic target for diseases affecting many organ systems. One of these 1,4-dihydropyridines, DHP-103, blocked K_Ca3.1 with an IC50 of 6 nM and exhibited exquisite selectivity over calcium channels and a panel of …

Physical Activity Measurement Reactivity Among Midlife Adults With Elevated Risk For Cardiovascular Disease: Protocol For Coordinated Analyses Across Six Studies., Kiri Baga, Gabrielle M Salvatore, Iris Bercovitz, Amanda L Folk, Ria Singh, Laura M König, Meghan L Butryn, Jacqueline A Mogle, Danielle Arigo

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Cardiovascular disease (CVD) remains the leading cause of death in the United States, and adults aged 40-60 years with specific health conditions are at particularly elevated risk for developing CVD. Physical activity (PA) is a key cardioprotective behavior and many interventions exist to promote PA in this group. Effective promotion requires accurate assessment of PA behavior; as PA is often estimated by averaging across multiple days, a threat to accurate assessment is measurement reactivity, or an atypical increase in PA behavior at the start of measurement periods that may bias conclusions. Evidence for PA measurement reactivity is equivocal, though …

Heart Attacks Are On The Rise Among Young And Middle-Aged Adults In The United States, Vicente Cuevas

Population Health Research Brief Series

Heart attacks are on the rise among young and middle-aged adults in the United States. This brief describes these increases, the role of behavioral, lifestyle, and societal factors, and provides recommendations for organizations, healthcare providers, and policymakers to combat the increase in early-onset heart disease.

Ensemble Learning With Explainable Ai For Improved Heart Disease Prediction Based On Multiple Datasets, Shahid Mohammad Ganie, Pijush Kanti Dutta Pramanik, Zhongming Zhao

Faculty, Staff and Student Publications

Heart disease is one of the leading causes of death worldwide. Predicting and detecting heart disease early is crucial, as it allows medical professionals to take appropriate and necessary actions at earlier stages. Healthcare professionals can diagnose cardiac conditions more accurately by applying machine learning technology. This study aimed to enhance heart disease prediction using stacking and voting ensemble methods. Fifteen base models were trained on two different heart disease datasets. After evaluating various combinations, six base models were pipelined to develop ensemble models employing a meta-model (stacking) and a majority vote (voting). The performance of the stacking and voting …

Application For Prediction Of Heart Failure; The Next Step In Machine Learning For Healthcare, Amy Adyanthaya, Dawn Bowerman, Rachel Liercke, Robert Slater

SMU Data Science Review

Heart failure (HF) is a serious medical condition affecting approximately 6.7 million U.S. adults and is expected to impact 8.5 million Americans by 2030 [1]. Heart failure is a complicated clinical ailment and characterizes the final course of numerous heart diseases [2]. This paper introduces a machine-learning-based application that utilizes Support Vector Machine (SVM), Multi-Layer Perceptron (MLP), and XGBoost models, implemented through the Python Flask framework, to predict HF risk using clinical data. The results indicate high model performance, with precision and recall metrics underscoring the application’s reliability in identifying at-risk patients. By providing real-time, accessible insights, this tool aims …

Association Between High Triglyceride-Glucose Index And Macce In Hypertriglyceridemia Patients Undergoing Percutaneous Coronary Intervention, Yichuan Wang, Yanfeng Lu, Shanshan Gao, Zhong Zhong, Jasmine Bao, Bo Liu, Ruihan Fan, Ning Guo

SKMC Student Presentations and Publications

BACKGROUND: With a focus on metabolism-related cardiovascular diseases, the triglyceride-glucose (TyG) index has been used as a surrogate marker of insulin resistance in the prognosis of coronary heart disease. However, the prognostic role of the TyG index in patients with elevated triglycerides, still requires further research. This study aimed to investigate the association between the TyG index and Major Adverse Cardiac and Cerebrovascular Events (MACCE) in patients with hypertriglyceridemia undergoing drug-eluting stent percutaneous coronary intervention (DES-PCI).

METHODS: Out of 2250 patients, 813 with hypertriglyceridemia who underwent DES-PCI were retrospectively analyzed. MACCE was regarded as the primary endpoint. Kaplan-Meier (KM) curves …

Indeterminate Benefit Of Long-Term Beta-Blocker Use After Acute Myocardial Infarction For Some Patients, Logan S. Thayer, Khush Hussain, Nicholas Apostolakis, Gretchen Swift, Arifbillah Sarowar, Mohammad Al-Hadidi, Scott Yaekle

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Yndigegn T, Lindahl B, Mars K, et. al., Beta-blockers after myocardial infarction and preserved ejection fraction. N Engl J Med. April 7 2024;390:1372-1381. https://doi.org/10.1056/NEJMoa2401479

for a patient showing 55% left ventricular ejection fraction after myocardial infarction.

74 - Age And Seasonal Blood Pressure Variation In People Experiencing Homelessness In Hampton Roads, Luke Ekdahl, Katherine Schaffer, Joshua Edwards, Kean Feyzeau

Undergraduate Research Symposium

Intro: For older community members experiencing homelessness, both their housing status and age are associated with increased cardiovascular risk. Lack of consistent protection from outdoor temperatures are hypothesized to affect variation in blood pressure seasonally. In this study, we sought to compare older (55+) and younger (under 55) individuals in this cohort and identify within-group associations between blood pressure (BP) and mean daily temperature (MDT) as affected by season.

Methods: 301 patients from two student-run free clinics met BP inclusion criteria. MDT was sourced from the Global Historical Climatology Network daily dataset. Interquartile range method for outlier detection limited visits …

Continued Care In Female Patients With Tetralogy Of Fallot Into Adulthood And Pregnancy, Taylar Boerema, Mayle Owen, Anna Topp, Jolene Harris

Celebration of Research

Tetralogy of Fallot (TOF) is a congenital heart disease with four distinct characteristics: pulmonary valve stenosis, overriding aorta, right ventricular hypertrophy (RVH), and ventral septal defect (VSD). Surgical correction is now an option with 98% survival rate. Patients with repaired TOF (rTOF) often reach adulthood and can transition out of pediatric care. Unfortunately, providers trained to care for adults with congenital heart defects are not readily available. This has caused a lapse in care for many individuals with TOF. Additionally, providers trained to care for patients with congenital heart defects are needed to monitor patients with pre-pregnancy counseling and throughout …

Canary In The Carpal Tunnel: A Pilot Study Of The Value Of The Screening For Amyloidosis In Carpal Tunnel Syndrome, Trevor Ruesch, Nevil Khurana, Logan Hansen Md, Katiya Barkho, Julia Malewicz, Charles Day Md

Medical Student Research Symposium

Introduction/Purpose:

Transthyretin amyloidosis occurs in two forms, hereditary transthyretin amyloidosis (hATTR), and wild-type ATTR (wtATTR)². Amyloidosis can result in restrictive cardiomyopathy presenting as heart failure with preserved ejection fraction (HFpEF)⁴. A growing body of evidence demonstrates that amyloidosis may be underdiagnosed and can be caught earlier in the disease course⁵. The proteins causing amyloidosis can also deposit into various tissues including the carpal tunnel leading to carpal tunnel syndrome ².

In this pilot study, we propose that early detection of amyloid via a biopsy of the transverse carpal ligament or tenosynovium in the …

The Role Of Non-Statin Lipid Lowering Therapies To Reduce Ascvd Events In Primary Prevention, Chukwuemezie Mamanu, Dean Karalis

Division of Cardiology Faculty Papers

PURPOSE OF REVIEW: Atherosclerotic cardiovascular disease (ASCVD) remains a leading global health challenge, with low-density lipoprotein (LDL) cholesterol a pivotal risk factor. While statins are cornerstone therapy for lowering LDL cholesterol, many high-risk primary prevention patients are unable to tolerate statin therapy and do not achieve their guideline directed LDL cholesterol goal. For these patients, non-statin therapies offer complementary and alternative approaches to LDL cholesterol reduction.

RECENT FINDINGS: Recent advancements in non-statin therapies have expanded the options available to clinicians to lower LDL cholesterol in high-risk primary prevention patients. Yet these medications are often under-utilized in clinical practice. Observational studies, …

Analysis Of Mycoplasma Pneumoniae Cards Toxin In The Air-Liquid Interface Bronchial Culture Model, Alexandria Hernandez

Posters - 2025

Mycoplasma pneumoniae is a pathogen that can cause severe respiratory infection that can rarely be life threating. There are currently no vaccines against M. pneumoniae, and the prevalence of antibiotic-resistant strains of M. pneumoniae is on the rise.1 During infection, M. pneumoniae produces a toxin called Community Acquired Respiratory Distress Syndrome (CARDS) toxin, which plays a role in establishing infection. Analysis of the crystal structure of CARDS toxin protein reveals three protein domains: D1, D2,and D3.

After entering a cell, CARDS toxin traffics by a retrograde process to the ER of the cell, where it undergoes processing.4 Our current studies …

Demographic Variations In Long Qt Syndrome: Analyzing The Impact Of Gender, Ethnicity, And Environmental Factors On Prevalence And Risk, Heidi Bosch

Senior Honors Theses

Long QT syndrome (LQTS) is an arrhythmic condition characterized by delayed repolarization of cardiomyocytes, identified by prolonged QT interval on an electrocardiogram (ECG). LQTS can be caused by congenital mutations of ion channels or acquired through conditions, medications, and environmental factors. Prolongation of the QT interval can trigger deadly arrhythmia including torsade de pointes (TdP). LQTS has been named the top cause of sudden cardiac death (SCD) for young individuals with anatomically normal hearts. The incidence of LQTS has been reported to be between 1:2000 and 1:2500. The demographic differences in LQTS prevalence have not been thoroughly researched. The incidence …

Tale Of A Colossal Heart: Coxsackie B Virus Related Dilated Cardiomyopathy Presenting As Ambulatory Cardiogenic Shock, Mahmood Danishwar, Muhammad Asad Hanif, Raesham Bukhari, Brian Mccauley

Tower Health Research Day

No abstract provided.

Impact Of Body Mass Index On Stroke In Extracorporeal Cardiopulmonary Resuscitation: Data From The Extracorporeal Life Support Organization Registry, Jin Kook Kang, Shi Nan Feng, Winnie Liu, Jiah Kim, Andrew Kalra, Patricia Brown, Christopher Wilcox, Daniel Brodie, Steven Keller, Bo Soo Kim, Glenn Whitman, Sung-Min Cho

SKMC Student Presentations and Publications

Objective: We aimed to characterize the impact of body mass index (BMI) on stroke in patients receiving extracorporeal cardiopulmonary resuscitation (ECPR). Methods: We queried the Extracorporeal Life Support Organization registry for patients receiving ECPR (2020-2024). Patients were categorized into five BMI groups: underweight (< 18.5 kg/m²), normal weight (18.5-24.9 kg/m²), overweight (25-29.9 kg/m²), class 1 obesity (30-34.9 kg/m²), and class 2 obesity or above (≥35 kg/m²). A generalized additive model (GAM) analysis was used to identify the BMI range with the greatest stroke risk. Multivariable regression was used to compare odds of …

Using Ehr Reminders To Control Hypertension, Umme Kulsoom Ghous, Logan Mcculley, Danielle C. Hall, Linda Katherine Lambert, Laura Reed Dnp, Aprn, Fnp-Bc, Cne

Doctor of Nursing Practice Projects

Purpose/Background

Hypertension is a significant risk factor for cardiovascular and kidney diseases but is often under-diagnosed and poorly managed. Electronic Health Records (EHR) can help by providing automated reminders to recheck elevated blood pressure (BP) readings, ensuring accurate measurements, and guiding clinical interventions. This study aims to determine if EHR-based reminders improve BP control in adult patients aged 21 and older, focusing on hypertension diagnosis accuracy and timely management.

Methods

After a literature review, the study took place in a primary care clinic and only included patients with an existing diagnosis of hypertension. Thirty patients were included in the study. …

Preoperative Brain Volume Loss Is Associated With Postoperative Delirium In Advanced Heart Failure Patients Supported By Left Ventricular Assist Device, Iván Murrieta-Álvarez, Jacob P Scioscia, José M Benítez-Salazar, Jason Uwaeze, Zicheng Xu, Guangyao Zheng, Shiyi Li, Vladimir Braverman, Carl P Walther, Alexis E Shafii, Camila Hochman-Mendez, Todd K Rosengart, Kenneth K Liao, Nandan K Mondal

Faculty, Staff and Students Publications

Delirium is a common neurological complication in patients with advanced heart failure (ADHF) following left ventricular assist device (LVAD) implantation, significantly impacting recovery. This study aimed to analyze non-contrast computed tomography (CT) scans of the brain in ADHF patients undergoing LVAD implantation to determine the association between pre-existing brain atrophy and postoperative delirium. A study involving 166 ADHF patients was conducted from March 2020 to July 2023. Non-contrast CT scans were analyzed using advanced quantitative neuroimaging techniques before implantation. The primary marker assessed was the lateral ventricle fraction (LVF), with secondary markers including cortical gray matter fraction (cGMF), white matter …

The Role Of Electrophysiologic Study In Device Selection For Leadless Atrial Pacing, Joshua R Hirsch, Jordan M Gales, Irakli Giorgberidze, Hamid Afshar

The Texas Heart Institute Journal

The AVEIR DR (Abbott Medical) was the first dual-chamber leadless pacing system approved by the US Food and Drug Administration. Many patients with sinus node dysfunction have physiologically normal atrioventricular conduction, so an atrial-only pacing system may be appropriate for them. Three patients with symptomatic sinus node dysfunction underwent device implantation with electrophysiologic study, including incremental atrial pacing until loss of 1:1 atrioventricular conduction (atrioventricular Wenckebach cycle length) and His-ventricular interval measurement. If the atrioventricular Wenckebach cycle length was no more than 400 milliseconds and the His-ventricular interval measurement was no more than 55 milliseconds, single-chamber atrial implantation was deemed …

Spontaneous Distal Middle Cerebral Artery Aneurysm In A Young Male With Full Mutation Of The Fragile X Syndrome With A High-Functioning Phenotype: Illustrative Case, Eleni Papadopoulos, Anna Abrimian, Hekmat Zarzour, Randi J Hagerman, Richard F Schmidt

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that typically presents with neurodevelopmental abnormalities. Patients with FXS can present with signs and symptoms of connective tissue disorder (CTD) and occasionally with vascular disease. However, cerebrovascular disease is not well documented in these patients, and it is unknown whether there is a direct link between abnormal levels of fragile X protein (FMRP) and its mRNA.

OBSERVATIONS: Here, the authors present a rare case of an adult male with full mutation FXS of a high-functioning phenotype who presented with syncope, and on further evaluation, a fusiform dissecting aneurysm of the distal …