Cardiology Commons^™

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 …

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 …

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 Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle

North Texas Research Forum 2023

Von Gierke disease is an inherited Glycogen Storage disease - type 1 resulting from deficiencies in the specific enzymes glucose 6 phosphatase(1a), and/or glucose 6 phosphate translocase(1b) glycogen metabolism pathway. Von Gierke disease is commonly seen in the pediatric population and is known for his hepatic and renal manifestations. Here we discuss a rare case of Von Gierke’s disease causing some rare cardiac manifestations. 41yo M with PMHx significant for Von Gierke type 1a, HFrEF complicated by VT s/p ICD, HTN who presented for complaints of continued SOB with new muscle soreness. On arrival, lactic acid was elevated at 5.2, …

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.

Ablation Of Rare Accessory Pathway From Right Atrial Appendage Diverticulum To Anatomic Left Ventricle In Cc-Tga., Shree Lata Radhakrishnan, Robert Drutel, Cody Williams, Raman Danrad, Kelly Gajewski, Paul A. Lelorier

School of Medicine Faculty Publications

American College of Cardiology Conference ACC.23, March 4 - 6, 2023, New Orleans, LA

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 …

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 …

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 …

Derivation And Validation Of A General Predictive Model For Long Term Risks For Mortality And Invasive Cardiovascular Interventions In Congenital Heart Disease, David A. Danford

Capstone Experience

Introduction. Accurate assessment of prognosis is a key driver of clinical decision making in congenital heart disease (CHD), but is complicated because CHD represents such a diverse collection of conditions. The aim of this investigation is to derive, validate, and calibrate multivariable predictive models for time to surgical or catheter-mediated intervention (INT) in CHD and for time to death in CHD. Methods. 4108 unique subjects were prospectively and consecutively enrolled, and randomized to derivation and validation cohorts. Total follow up was 26,578 patient-years, with 102 deaths and 868 INTs. Accelerated failure time multivariable predictive models for the outcomes, based on …

Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel

Doctor of Nursing Practice Final Manuscripts

Abstract

Background

Congenital heart disease (CHD) is the most common birth defect and affects almost 1% of all live births. Treatment anxiety is common among children with CHD who undergo multiple procedures early in their lifetime. Dramatically increased life spans for this cardiac population has led to a shift from focusing on survival to their long-term health outcomes.

Methods:

Administration of the Peds QL Cardiac Module 3.0 assesses health related quality of life (HRQOL) during annual visits to a Cardiac Neurodevelopmental (ND) Clinic by evaluating the level of Treatment Anxiety a patient experiences during healthcare appointments. The questionnaire scores are …

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 …

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.

Early Impact Of The Covid-19 Pandemic On Congenital Heart Surgery Programs Across The World: Assessment By A Global Multi-Societal Consortium., Eleftherios M. Protopapas, Mauro Lo Rito, Vladimiro L. Vida, George E. Sarris, Christo I. Tchervenkov, Bohdan J. Maruszewski, Zdzislaw Tobota, Bistra Zheleva, Hao Zhang, Jeffery P. Jacobs, Joseph A. Dearani, Elizabeth H. Stephens, James S. Tweddell, Nestor F. Sandoval, Emile A. Bacha, Erle H. Austin, Kisaburo Sakamoto, Sachin Talwar, Hiromi Kurosawa, Zohair Y Al Halees, Marcello B. Jatene, Krishna S. Iyer, Cheul Lee, Rajesh Sharma, Yasutaka Hirata, Frank Edwin, Jorge L. Cervantes, James O'Brien, James D. St Louis, James K. Kirklin, Covid-19 International Congenital Heart Surgery Taskforce

Manuscripts, Articles, Book Chapters and Other Papers

The coronavirus disease 2019 (COVID-19) pandemic currently gripping the globe is impacting the entire health care system with rapidly escalating morbidities and mortality. Although the infectious risk to the pediatric population appears low, the effects on children with congenital heart disease (CHD) remain poorly understood. The closure of congenital heart surgery programs worldwide to address the growing number of infected individuals could have an unintended impact on future health for COVID-19-negative patients with CHD. Pediatric and congenital heart surgeons, given their small numbers and close relationships, are uniquely positioned to collectively assess the impact of the pandemic on surgical practice …

Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome., Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A J Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick

Manuscripts, Articles, Book Chapters and Other Papers

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or array-based imputation. We utilized sequence kernel association testing and polygenic risk score (PRS) methods to examine rare and common variants. Our findings suggest that the Notch pathway, particularly …

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 …

Atrioventricular Nodal Reentrant Tachycardia In Patients With Complex Congenital Heart Disease And Twin Atrioventricular Nodes., John Papagiannis, Christopher Mathis, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

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 …

The Role Of Alternative Mrna Splicing In Heart Development, Douglas Bittel, Nataliya Kibiryeva, Naoya Kenmochi, Prakash Patil, Tamayo Uechi, Brenda Rongish, Mike Filla, Jennifer A. Marshall, Michael Artman, Rajasingh Johnson, James E. O'Brien

Manuscripts, Articles, Book Chapters and Other Papers

Research in the last 10 years has led to improved understanding of the genetic regulation of vertebrate heart development, but despite this effort, approximately 70% of all congenital heart defects (CHDs) still have an unknown etiology. Alternative splicing of mRNA has been documented to play roles in normal and abnormal development. Dysregulated splicing of mRNA has been shown to cause heart defects in mice, however a link between mRNA splicing and CHDs has not yet been shown in humans. We reported that more than 50% of genes associated with heart development were alternatively spliced in the right ventricle (RV) of …

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

Cardiology

No abstract provided.

A Five Chambered Heart, George Hanna, Javad Savoj, Syed Iftikhar, Scott Kubomoto, Patrick Hu

Internal Medicine

No abstract provided.

Prevalence Of Sensorineural Hearing Loss In Children With Palliated Or Repaired Congenital Heart Disease., Lalitha Gopineti, Mane Paulpillai, Andrea Rosenquist, Andrew H. Van Bergen

Manuscripts, Articles, Book Chapters and Other Papers

Background Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental deficits, and the presence of sensorineural hearing loss (SNHL) may further lead to poor language skills acquisition and speech delays. Prevalence of SNHL in the general pediatric population is estimated to be 0.2% at birth to 0.35% during adolescence. Very few studies have attempted to estimate SNHL prevalence in children who have undergone congenital heart surgery. Methods This retrospective study aimed to estimate SNHL prevalence in children who underwent congenital heart surgery in our institution and were followed up in our high-risk pediatric cardiology clinics for four …

Anticipation, Accompaniment, And A Good Death In Perinatal Care., Bryanna S. Moore, Brian S. Carter, Bryan Beaven, Katie House, Joel House

Manuscripts, Articles, Book Chapters and Other Papers

The ethics of perinatal care, and the experiences of families who receive such care, remains a nascent area of inquiry. It can be hard to see how existing "good death" constructs apply to the experiences of fetal patients and their families. In this paper, we explore two themes raised by a case at our fetal health center: anticipation and accompaniment. In this case, a mother presented to our fetal health center; her unborn son, our fetal patient, was diagnosed with life-threatening hypoplastic left heart syndrome and endocardial fibroelastosis. The parents were told that their son's life expectancy, upon birth, was …

Comparison Of Echocardiographic Measurements To Invasive Measurements Of Diastolic Function In Infants With Single Ventricle Physiology: A Report From The Pediatric Heart Network Infant Single Ventricle Trial., Suma P. Goudar, Victor Zak, Andrew M. Atz, Karen Altmann, Steven D. Colan, Christine B. Falkensammer, Mark K. Friedberg, Michele Frommelt, Kevin D. Hill, Daphne T. Hsu, Jami C. Levine, Renee Margossian, Christopher R. Mart, Joshua Sticka, Peter Shrader, Girish S. Shirali, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: While echocardiographic parameters are used to quantify ventricular function in infants with single ventricle physiology, there are few data comparing these to invasive measurements. This study correlates echocardiographic measures of diastolic function with ventricular end-diastolic pressure in infants with single ventricle physiology prior to superior cavopulmonary anastomosis.

METHODS: Data from 173 patients enrolled in the Pediatric Heart Network Infant Single Ventricle enalapril trial were analysed. Those with mixed ventricular types (n = 17) and one outlier (end-diastolic pressure = 32 mmHg) were excluded from the analysis, leaving a total sample size of 155 patients. Echocardiographic measurements were correlated to …

Maternal Nicotine Exposure Induces Congenital Heart Defects In The Offspring Of Mice, Elizabeth Greco

Electronic Thesis and Dissertation Repository

Congenital heart defects are the most prevalent birth defect, and maternal cigarette smoking is a known risk factor. Nicotine replacement therapies are recommended to pregnant women who smoke to aid in smoking cessation, as this alternative is thought to be much safer compared to cigarette smoking. However, these products contain nicotine, and the safety of nicotine on the developing heart is not well known. In this thesis, a mouse model was used to test the hypothesis that maternal nicotine exposure (MNE) during pregnancy leads to congenital heart defects and coronary artery defects in the offspring of mice. MNE resulted in …

Permanent Junctional Reciprocating Tachycardia In Infants And Children, Ranjit I. Kylat Md, Ricardo A. Samson

School of Medicine Faculty Publications

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT). It generally presents in infants but can be difficult to diagnose. The characteristic EKG findings, response to Adenosine and persistence or frequent recurrences are helpful in making the diagnosis. It is usually difficult to manage with the initial and single medications used in SVT. Many patients are misdiagnosed and not treated effectively and end up having end stage cardiomyopathy and are diagnosed in patients referred for transplant. Hence all patients referred for a cardiac transplant with dilated cardiomyopathy need to be evaluated for this arrhythmia. If appropriate …