Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Brief Review: Regional Anesthesia For Vaso-Occlusive Pain Crises, Oluwatomi Alade

Rowan-Virtua Research Day

Vaso-occlusive pain crisis occurs with obstruction of blood vessels from sickled red blood cells. This results in ischemic injury causing in pain. Acute vasoocclusive pain crisis is one of the most common reasons for patients with sickle cell disease to present to the hospital for medical attention. Acute treatment involves IV opioid therapy, non-opioid therapy, and IV hydration. There is a known lack of trust between a patient in acute pain and a provider in the emergency department (ED) and hospital secondary to stereotypes regarding pain seeking behavior. Here we discuss a case of vasoocclusive pain crisis refractory to opioid …

Congenital Atrial Septal Defect Presenting With Tamponade Physiology And An Associated Viral Illness, Angel G. Juarez, Gabriela Jhon, Rami N. Khouzam, Randall Goodroe

South Atlantic Division Research Day 2024

No abstract provided.

Health And Lifestyle Behavioral Changes To Prevent Myocardial Infarction (Mi): Mixed Methods Approach To Understand Secondary Mi Prevention, Naila Idreesa Saghir

Global Public Health | Senior Theses

Cardiovascular diseases are the leading causes of death globally and about 200,000 individuals experience their second myocardial infarction yearly. There is a lack of understanding about how lifestyle and behavioral changes can prevent secondary myocardial infarction a year in the United States. The objective of this study is to use a mixed methods approach to understand how individuals who have made lifestyle behavioral changes to prevent their secondary myocardial infarction. Surveys and interviews consisted of questions about the participants' health behaviors and health history. Demographics, background information, and lifestyle behavioral changes were measured using Qualtrics. Valid and reliable tools such …

Unraveling Abdominal Heterotaxy Syndrome: A Case Study Of Intractable Nausea And Vomiting In An Adult Female, Allison Yang, Timbre Backen, Michaela Snow, Kyle Combe, Julie Krenz

Continental, MidAmerica, & Mountain Divisions Research Day 2024

No abstract provided.

A Rare Case Of Tricuspid Atresia Absent Pulmonary Valve Diagnosed On Fetal Echocardiography, Wesam Sourour, Shannon K. Powell

School of Medicine Faculty Publications

• TA absent PV is a rare congenital heart anomaly. • TA absent PV is associated with a poor prognosis. • TA absent PV can be successfully diagnosed on fetal echocardiography.

Congenital L-Transposition Of The Great Arteries In A 12-Year-Old: A Case Report, Muhammad Noman

Rowan-Virtua Research Day

Levo-transposition of the great arteries, L-TGA, also known as congenitally corrected transposition, cc-TGA is a rare anomaly and accounts for less than 1% of all congenital heart diseases. It is characterized by both atrioventricular and ventriculoarterial discordance . It is considered a congenitally corrected transposition because the circulation is from right atrium to left ventricle leading to the pulmonary vasculature. The lungs then pump blood into the left atrium to the right ventricle and eventually to the systemic circulation via the aorta.

Is There An Association Between Preeclampsia/Eclampsia And Congenital Heart Disease Among The Neurodivergent Population?, Jasmine Emanuel, Venkateswar Venkataraman, Jennifer Lecomte, Andrea Iannuzzelli

Rowan-Virtua Research Day

Preeclampsia and eclampsia are very common gestational conditions among pregnant individuals worldwide. These individuals are diagnosed with high blood pressure (after 20 weeks of gestation), proteinuria/end-stage organ disease, and may include seizures. These conditions can put the mother and fetus at risk. A review of literature has shown that there is an association between cardiovascular defects among the neurodivergent population, where these individuals have a higher risk of developing atrial septal defects and ventricular septal defects. The Rowan-Virtua Integrated Special Needs (RISN) Center patient population will be used to investigate whether preeclampsia/eclampsia in mothers is indicative of higher congenital heart …

Inflammatory Marker Levels Among Patients Diagnosed With Autism Spectrum Disorder And Congenital Heart Defects, Patrick Pearce, Venkateswar Venkataraman, Andrea Iannuzzelli, Jennifer Lecomte

Rowan-Virtua Research Day

Autism Spectrum Disorder (ASD) and congenital heart defects (CHD) are conditions that both confer an immense increase in standard of care, and utilization of medical resources addressing comorbidities. One shared symptom that has been consistently cited is inflammation. This review sought to explore the levels of Tumor Necrosis Factor-𝞪 (TNF-𝞪) and Interleukin-6 (IL-6) between patients diagnosed as having either ASD or CHD. By compiling published data containing the mean values of these two inflammatory markers within these populations, it was shown that while both have significantly elevated levels compared to a phenotypically normal demographic, there is no significant difference between …

Contemporary Homozygous Familial Hypercholesterolemia In The United States: Insights From The Cascade Fh Registry, Marina Cuchel, Paul C. Lee, Lisa C. Hudgins, P. Barton Duell, Zahid Ahmad, Seth J. Baum, Macrae F. Linton, Sarah D. De Ferranti, Christie M. Ballantyne, John A. Larry, Linda C. Hemphill, Iris Kindt, Samuel S. Gidding, Seth S. Martin, Patrick M. Moriarty, Paul P. Thompson, James A. Underberg, John R. Guyton, Rolf L. Andersen, David J. Whellan, Irwin Benuck, John P. Kane, Kelly Myers, William Howard, David Staszak, Allison Jamison, Mary C. Card, Mafalda Bourbon, Joana R. Chora, Daniel J. Rader, Joshua W. Knowles, Katherine Wilemon, Mary P. Mcgowan

Division of Cardiology Faculty Papers

Background

Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment‐resistant disorder characterized by early‐onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain.

Methods and Results

Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the …

A Rare Case Of Persistent Left Superior Vena Cava Discovered During An Intracardiac Echocardiography Procedure, Riddhi H. Patel, Bilal Ayub

North Texas Research Forum 2023

Background: Isolated persistent left superior vena cava (PLSVC), also known as persistent left superior vena cava (SVC) with absent right SVC, affects 0.09-0.13% of the population. Right SVC is present in the majority of people with left SVC. Rarely, the right SVC may be missing. Here, we discuss a rare case of PLSVC found incidentally in a patient with paroxysmal atrial fibrillation (PAF).

Case: A 63-year-old female patient with a history of Paroxysmal Atrial flutter (AFL) and atrial fibrillation (AF) on apixaban, HTN, and HLD was brought to the electrophysiology lab for electrophysiology study (EPS) and AF/AFL ablation due to …

The Domino Effect: Spontaneous Abortions As A Sequela Of Eisenmenger Syndrome, Riddhiben Patel, Anas Hamadeh, Laura Montoya, Senthil Thambidorai

North Texas Research Forum 2023

Background: Eisenmenger's syndrome (ES) is a congenital cardiac abnormality in which a significant chronic left-to-right shunt results in pulmonary arterial hypertension and a reversal of the shunting direction. A woman with ES should ideally avoid conception given the increased risk of unexpected fetal demise and maternal mortality. Case: We present a case of a 35-year-old female patient G3, P0, at 9 weeks gestation with reported PMHx of erythrocytosis and spontaneous abortions who presented to the hospital with complaints of vaginal bleeding and worsening SOB. She was noted to have a Hct of 70 and a Hb of 23.8, with SaO2 …

Clinical Decision Making In A Challenging Case: A Case Of Anomalous Origin Of The Right Coronary Artery With Interarterial Course Presents With Sudden Cardiac Death, Israa Al-Gburi, Amid Bitar, Reem Alqader

South Atlantic Division Research Day 2023

No abstract provided.

Hereditary Angioedema: Diagnosis, Clinical Implications, And Pathophysiology, Evan S. Sinnathamby, Peter P. Issa, Logan Roberts, Haley Norwood, Kevin Malone, Harshitha Vemulapalli, Shahab Ahmadzadeh, Elyse M. Cornett, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a mutation in the C1 esterase inhibitor gene. HAE affects 1/50,000 people worldwide. Three main types of HAE exist: type I, type II, and type III. Type I is characterized by a deficiency in C1-INH. C1-INH is important in the coagulation complement, contact systems, and fibrinolysis. Most HAE cases are type I. Type I and II HAE result from a mutation in the SERPING1 gene, which encodes C1-INH. Formally known as type III HAE is typically an estrogen-dependent or hereditary angioedema with normal C1-INH activity. Current guidelines now recommend subdividing …

Noncompaction Cardiomyopathy: A Catastrophic Cause Of Heart Failure, William Zvagelsky, Ajay Iyer, Rebecca Kurian, Brent Wu, Minar Rane, Rajendran Sabapathy

Continental, MidAmerica, & Mountain Divisions Research Day 2023

No abstract provided.

When You Are Not Able To Engage The Right Coronary Artery, Emadeldeen Elgwairi, Ajay Iyer, William Zvagelsky, Shruti Verma, Marcarthur Limpiado, Minar Rane, David Rios

Continental, MidAmerica, & Mountain Divisions Research Day 2023

No abstract provided.

A Stiff Lower Lip, Tricia O'Brien, Philip Mesquita, Zahid Chaudry

East Florida Research Day 2023

No abstract available.

Primary Cilia Of The Cardiac Neural Crest & Hedgehog-Mediated Mechanisms Of Congenital Heart Disease, Lindsey A. Fitzsimons

Electronic Theses and Dissertations

Elimination of primary cilia in cardiac neural crest cell (CNCC) progenitors is hypothesized to cause a variety of congenital heart defects (CHDs), including atrioventricular septal defects, and malformations of the developing cardiac outflow tract. We present an in vivo model of CHD resulting from the conditional elimination of primary cilia from CNCC using multiple, Wnt1:Cre-loxP, neural crest-specific systems, targeting two distinctive, but critical, primary cilia structural genes: Intraflagellar transport protein 88 (Ift88) or kinesin family member 3A (Kif3a). CNCC loss of primary cilia leads to widespread CHD, where homozygous mutant embryos (MUT) display a variety of outflow tract malformations, septation …

Fortuitous Diagnosis Of Total Anomalous Pulmonary Venous Return In A Newborn With Hypoglycemia, Joseph Maes, Terence Zach

Child Health Research Institute Pediatric Research Forum

No abstract provided.

Development Of A Nurse Practitioner Driven Program For Cardiology Providers To Increase Knowledge And Awareness Of Neurodevelopmental Assessment Needs In Children With Congenital Heart Defects, Michele Readman

Doctor of Nursing Practice Final Manuscripts

Children diagnosed with congenital heart defects are at increased risk for neurodevelopmental delays. Timely referral of patients to a neurodevelopmental clinic for initial evaluation and referrals to support services can improve learning outcomes, provide early intervention for neurodevelopmental disorders, and mediate factors affecting low quality of life. Nationally, a substantial proportion of pediatric cardiologists are not referring children for neurodevelopmental evaluation. A review of patient referrals to a Cardiac Neurodevelopmental Clinic within an urban children’s hospital demonstrated an opportunity to improve provider awareness and knowledge of referral recommendations. Using the Iowa Model of Evidence-Based Practice to Promote Quality Care, an …

An Exploration Of Psychological Trauma And Positive Adaptation In Adults With Congenital Heart Disease During The Covid-19 Pandemic, Liza Morton Dr, Calum Calderwood, Nicola Cogan, Claire Murphy, Evan Nix, Jacek Kolacz Dr

Patient Experience Journal

The growing population of adults with congenital heart disease (CHD) often have lifelong experience of dealing with potentially traumatic health crises and medical uncertainty whilst facing increased vulnerability to post-traumatic stress disorder (PTSD). The COVID-19 pandemic presents additional challenges for this population including increased risk of health complications, shielding and strict social distancing, changes to medical care provision and social stigma. Despite such challenges, adults with CHD have the potential to also experience positive changes, yet little is known as to what helps cultivate positive adaptation and post-traumatic growth (PTG) within this context. The current study comprised a cross-sectional, anonymous, …

A Case Of Protein Losing Enteropathy After Fontan Operation, Gina Kim

Capstone Showcase

Protein Losing Enteropathy (PLE) is a condition in which an excessive amount of proteins are lost through the gastrointestinal tract leading to hypoproteinemia and manifesting as edema, ascites, and diarrhea. While in most cases PLE is a treatable disorder with good outcomes, the morbidity and mortality of the disorder is significantly elevated in patients with a history of Fontan surgery–an operation used to palliate patients born with a single ventricle by rerouting venous blood return directly to pulmonary circulation. After failure of first-line therapeutics of diuretics and steroids, this case study explores the successful treatment of a 5-year-old patient with …

The Role Of Pre-Participation Exams In Identifying Student Athletes At Risk For Sudden Cardiac Arrest, Elizabeth Frey

Honors Projects

Sudden cardiac arrest (SCA) is the leading cause of death in young student athletes (Drezner et al., 2007). With athletes being recognized as some of the healthiest members of society, a catastrophic event like this can stimulate debate over pre-participation screening and appropriate emergency actions. With 55-80% cases of sudden cardiac death (SCD) being asymptomatic before the event (Drezner et al., 2007), looking into how well pre-participation screenings identify at risk individuals becomes much more important. This project investigates to what extent pre-participation physicals (PPE) can be improved to better identify student athletes at risk for sudden cardiac death and …

A Rare Combination Of Persistent Left Superior Vena Cava And Partial Anomalous Pulmonary Venous Return, Sang Lee, Bishoy Elbebawy, Neena Joy, George Demosthenes, William Deluccia

Advances in Clinical Medical Research and Healthcare Delivery

A persistent left superior vena cava (LSCV) is a form of anomalous venous drainage of the superior vena cava into the left atrium. We present a case of LSCV and partial anomalous pulmonary venous return (PAPVR) in a patient with progressively worsening dyspnea on exertion. A 57-year-old female with a history of aortic valve stenosis, and tobacco abuse presented with dyspnea on exertion for 4 days. On presentations her vitals were unremarkable except elevated blood pressure and oxygen saturation of 94% on 5L oxygen. Physical exam was pertinent for 3/6 crescendo-decrescendo murmur with a radiation to the right carotid, mild …

Tricuspid Atresia With Totally Anomalous Pulmonary Venous Connection: An Uncommon Finding, Anmol Goyal

Research Days

Background: Tricuspid atresia comprises 3-4% of all congenital heart disease (CHD). Anatomic findings are no true connection between the right atrium (RA) and right ventricle (RV) with concomitant findings of a ventricular septal defect (VSD), right ventricular hypoplasia, abnormalities of right ventricular outflow tract, pulmonary valve and pulmonary arteries. Common associated lesions have been described including transposition of great vessels, hypoplasia of aortic arch, double outlet ventricle or a common arterial trunk. Total anomalous pulmonary venous connection (TAPVC) is relatively rare and we present a case in addition to the six previously described cases in literature.

Case: A 33-year-old woman …

The Effects Of Maternal Delta-9-Tetrahydrocannabinol And Cannabidiol Exposure On Fetal Heart Development In Mice, Gregory Robinson

Electronic Thesis and Dissertation Repository

Up to 22.6% of pregnant women consume cannabis during pregnancy despite the uncertainty of teratogenicity of the main ingredients in cannabis, delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD). This study tested the hypothesis that gestational THC and CBD exposure leads to heart abnormalities. Daily, oral THC exposure induced heart abnormalities in 68% of offspring with three main phenotypes including thickened semilunar valves, ventricular myocardial hypertrophy and hypoplastic coronary arteries in fetuses, and postnatal cardiac dysfunction. Altered gene expression of key cardiogenic regulators, increased proliferation, and reduced epicardial epithelial-to-mesenchymal-transition were demonstrated implicating potential mechanisms responsible for these abnormalities. Also, maternal CBD exposure resulted …

Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae

OB-GYN

No abstract provided.

Flash Pulmonary Edema: A Case And Review Of Left Ventricular Non-Compaction Cardiomyopathy, Paula J. Watts, Oliver S. Garbo, Wendy Barrett, Michael Kopstein, Ryan Maybrook, Dmitriy Scherbak

HCA Healthcare Journal of Medicine

Left ventricular non-compaction cardiomyopathy is an uncommon type of cardiomyopathy caused by malformation of the myocardium during embryogenesis. This results in trabeculations within the ventricular wall that can affect the left and, less commonly, right ventricles. Presentation ranges from clinically asymptomatic to life-threatening arrhythmias. It is a rare and relatively unknown form of cardiomyopathy, though thought to be underdiagnosed. Prevalence is increasing due to improvements in imaging and awareness. Management is similar to that of other cardiomyopathies including angiotensin-converting-enzyme inhibitors or angiotensin receptor blockers, beta-blockers, diuretics, automatic implantable cardioverter defibrillator placement and cardiac transplantation. We present a case of a …

Incidental Discovery Of Anomalous Left Coronary Artery Arising From The Pulmonary Artery In A Coronavirus Disease-2019 Patient: A Blessing In Disguise, Masood Ghori, Rizwan Ahmed

Journal of the Saudi Heart Association

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a serious congenital malformation. Reports about asymptomatic, incidentally discovered ALCAPA in adults are scarce. We describe a patient with no known pre-existing cardiac condition admitted to our hospital with coronavirus disease 2019 (COVID-19) and was incidentally found to have ALCAPA. To the best of our knowledge, this is the first reported case of incidentally discovered ALCAPA in a COVID-19 patient and highlights the importance of appropriate investigation of the coronary status by Multidetector Cardiac Computed Tomographic Angiography (MDCCTA) in individuals with asymptomatic left ventricular dysfunction. The presentation …

Tetralogy Of Fallot: A Clinical Review, Jacob Wooten, Joshua Bahos Silva

Student Scholar Showcase

Tetralogy of Fallot is a congenital heart disease that is associated with structural abnormalities during fetal development 1. The incidence of Tetralogy of Fallot in the United States is approximately 3-5 cases per 10,000 live births and is considered one of the most common cyanotic congenital heart diseases 2. The exact etiology of Tetralogy of Fallot is unknown, however it is thought to be associated with untreated maternal diabetes, maternal use of retinoids, as well as chromosomal abnormalities 2. The main components of this disease state include a right ventricular outflow obstruction, interventricular communication in the form of a ventricular …

Diagonal 1 And Mid-Lad Myocardial Bridge With Elevated Troponin Enzymes, Ronak Patel Do

Cardiology

No abstract provided.