Diseases Commons^™

Genetic Inactivation Of Β-Catenin Is Salubrious, Whereas Its Activation Is Deleterious In Desmoplakin Cardiomyopathy, Melis Olcum, Siyang Fan, Leila Rouhi, Sirisha Cheedipudi, Benjamin Cathcart, Hyun-Hwan Jeong, Zhongming Zhao, Priyatansh Gurha, Ali J Marian

Faculty, Staff and Student Publications

AIMS: Mutations in the DSP gene encoding desmoplakin, a constituent of the desmosomes at the intercalated discs (IDs), cause a phenotype that spans arrhythmogenic cardiomyopathy (ACM) and dilated cardiomyopathy. It is typically characterized by biventricular enlargement and dysfunction, myocardial fibrosis, cell death, and arrhythmias. The canonical wingless-related integration (cWNT)/β-catenin pathway is implicated in the pathogenesis of ACM. The β-catenin is an indispensable co-transcriptional regulator of the cWNT pathway and a member of the IDs. We genetically inactivated or activated β-catenin to determine its role in the pathogenesis of desmoplakin cardiomyopathy.

METHODS AND RESULTS: The Dsp gene was conditionally deleted in …

Predictive Metabolites For Incident Myocardial Infarction: A Two-Step Meta-Analysis Of Individual Patient Data From Six Cohorts Comprising 7897 Individuals From The Consortium Of Metabolomics Studies, Ana Nogal, Taryn Alkis, Yura Lee, Domagoj Kifer, Jie Hu, Rachel A Murphy, Zhe Huang, Rui Wang-Sattler, Gabi Kastenmüler, Birgit Linkohr, Clara Barrios, Marta Crespo, Christian Gieger, Annette Peters, Jackie Price, Kathryn M Rexrode, Bing Yu, Cristina Menni

Faculty, Staff and Student Publications

AIMS: Myocardial infarction (MI) is a major cause of death and disability worldwide. Most metabolomics studies investigating metabolites predicting MI are limited by the participant number and/or the demographic diversity. We sought to identify biomarkers of incident MI in the COnsortium of METabolomics Studies.

METHODS AND RESULTS: We included 7897 individuals aged on average 66 years from six intercontinental cohorts with blood metabolomic profiling (n = 1428 metabolites, of which 168 were present in at least three cohorts with over 80% prevalence) and MI information (1373 cases). We performed a two-stage individual patient data meta-analysis. We first assessed the associations …

Factors Influencing Ulcer Healing In Chronic Limb Threatening Ischemia Patients After Endovascular Angioplasty At Cipto Mangunkusumo General Hospital, Raden Suhartono, Ghany H. Wijaya, Akhmadu Muradi

The New Ropanasuri Journal of Surgery

Introduction. Chronic limb–threatening ischemia (CLTI) can cause rest pain in the lower extremities and the formation of ulcers or gangrene. Revascularization, which can be done using open surgery or endovascular procedures, is the first line of treatment in CLTI management. CLTI patients at CMGH usually came with advanced conditions and high re–amputation rates even after revascularization. This study aimed to determine factors associated with the outcome of endovascular angioplasty, especially ulcer healing.

Method. A cross–sectional study was conducted at CMGH, enrolling CLTI patients with Rutherford grades 5 and 6 who underwent angioplasty. Age, gender, history of smoking, hypertension, atrial fibrillation, …

Effect Of Flecainide And Ibutilide Alone And In Combination To Terminate And Prevent Recurrence Of Atrial Fibrillation, Alexander Burashnikov, José M. Di Diego, Bence Patocskai, Debra S. Echt, Luiz Belardinelli, Charles Antzelevitch

Division of Cardiology Faculty Papers

BACKGROUND: There is a need for improved approaches to rhythm control therapy of atrial fibrillation (AF).

METHODS: The effectiveness of flecainide (1.5 µmol/L) and ibutilide (20 nmol/L), alone and in combination, to cardiovert and prevent AF recurrence was studied in canine-isolated coronary-perfused right atrioventricular preparations. We also examined the safety of the combination of flecainide (1.5 µmol/L) and ibutilide (50 nmol/L) using canine left ventricular wedge preparations.

RESULTS: Sustained AF (>1 hour) was inducible in 100%, 60%, 20%, and 0% of atria in the presence of acetylcholine alone, acetylcholine+ibutilide, acetylcholine+flecainide, and acetylcholine+ibutilide+flecainide, respectively. When used alone, flecainide and ibutilide …

Aortic Valve Leaflets Are Asymmetric And Correlated With The Origin Of Coronary Arteries, Taylor S Koerner, Thomas Cunningham, Mayme E Marshall, Lauren S Talley, Megan Childress, Rami M Kharouf, Wen Li, Jorge D Salazar, Antonio F Corno

Faculty, Staff and Student Publications

BACKGROUND: Asymmetry of the aortic valve leaflets has been known since Leonardo Da Vinci, but the relationship between size and shape and origin of the coronary arteries has never been examined. Our aim was to evaluate this anatomy in a population of pediatric patients using a cross-sectional study design.

METHODS: Consecutive pediatric patients with trans-esophageal echocardiography (TEE), with or without trans-thoracic echocardiography (TTE), were included in our study. Exclusion criteria: (I) bicuspid aortic valve; (II) aortic valve stenosis; (III) hypoplasia of aortic valve annulus, or aortic root; (IV) truncal valve; (V) coronary artery atresia; (VI) previous surgery on aortic valve …

Interventricular Septal Hematoma Complicating Left Branch Bundle Lead Implantation: Treatment By Covered Stent, César Del Castillo, Jorge Van-Grieken, Marco Coello, Carlos Torres-Herrera, Barbara Clericus, Daniel Requena, Arnulfo Begazo, Franco Appiani, Boris Kuzmicic, Paola Varleta

Faculty, Staff and Students Publications

We present a female patient with heart failure with reduced ejection fraction who underwent left bundle branch cardiac resynchronization therapy. Left bundle branch lead implantation was complicated with septal branch perforation causing an iatrogenic coronary fistula complicated by septal hematoma formation and development of shock. Occlusion by covered stents was successfully achieved.

Patient Education Improvement Initiative For Self-Management Of Congestive Heart Failure Among Senior Residents Of A Long-Term Care Facility, Abigail A. Abella, Brooke Sheck, Daniela Ramos, Ivy H. Nguyen, Mary Tran, Roshni Nagarajan

Master's Projects and Capstones

The purpose of this quality improvement project was to use evidence-based practices to determine if personalized education on disease self-management would lead to improved treatment adherence in a residential facility. The target population consisted of four elderly female patients who had been diagnosed with congestive heart failure (CHF) and were struggling with the self-management of their disease. Contributing barriers to effective CHF self-management were determined using a root cause analysis, and included a lack of educational templates, declining cognitive ability of the residents, and no electronic health record (EHR). Using the Self-Determination theory, the interventions were implemented. Phase one was …

In Memoriam: Prof. Dr. Rer. Nat. Jeanette Erdmann, Pashmina Wiqar Shah, Satwat Hashmi, Tobias Reinberger, Nadine Odenthal, Luis Eichelmann, Daria Kosenko, Ilyas Ahmad, Jaafar Al-Hasani, Till Joscha Demal, Zouhair Aherrahrou

Department of Biological & Biomedical Sciences

No abstract provided.

Closing The Gaps In Care Of Dyslipidemia: Revolutionizing Management With Digital Health And Innovative Care Models, Samuel J. Apple, Rachel Clark, Jonathan Daich, Macarena Lopez Gonzalez, Robert J. Ostfeld, Peter P. Toth, Vera Bittner, Seth S. Martin, Jamal S. Rana, Salim S. Virani

Office of the Provost

Although great progress has been made in the diagnostic and treatment options for dyslipidemias, unawareness, underdiagnosis and undertreatment of these disorders remain a significant global health concern. Growth in digital applications and newer models of care provide novel tools to improve the management of chronic conditions such as dyslipidemia. In this review, we discuss the evolving landscape of lipid management in the 21st century, current treatment gaps and possible solutions through digital health and new models of care. Our discussion begins with the history and development of value-based care and the national establishment of quality metrics for various chronic conditions. …

Perioperative Quality Initiative (Poqi) Consensus Statement On Perioperative Assessment Of Right Ventricular Function, Stephanie O Ibekwe, Jean Deschamps, Michael P W Grocott, Yafen Liang, Andrew Shaw, Tjorvi E Perry

Faculty, Staff and Student Publications

BACKGROUND: The right ventricle (RV) plays a central role in the maintenance of effective cardiac pump function. Despite overwhelming evidence that perioperative RV dysfunction (RVD) and failure (RVF) are associated with poor clinical outcomes, there are very few published recommendations or guidelines for comprehensive, evidence-based RV assessment on the risk of developing either during the perioperative period.

MAIN TEXT: To address this gap, the Perioperative Quality Initiative-IX (POQI-IX) investigators group, comprised of clinical experts in anesthesiology, cardiovascular surgery, internal medicine, critical care medicine, and advanced practice nursing, has developed a consensus statement based on current literature, published society recommendations, and …

The Effects Of Night Shift Work On Heart, Gut, And Reproductive Health, A Systematic Review, Courtney Grayson, Preeti Oza

Pacific Journal of Health

Night shift work, a commonplace in today’s society, creates a variety of health-related challenges for individuals who participate in it. Often, the only adverse health effects discussed in relation to night shift work are sleep dysfunction and mental health issues. This systematic review examined the cardiovascular, gastrointestinal, and fertility health effects that plague individuals working night shift. The goal of this work is to illuminate these lesser known, but equally important, health effects in an effort to bring awareness to the issues. By educating night shift workers and health care providers of the acute risks associated with this type of …

Abstinence Restores Cardiac Function In Mice With Established Alcohol-Induced Cardiomyopathy, Joshua M. Edavettal, Nicholas R. Harris, Sarah E. Cohen, Janos Paloczi, Bysani Chandrasekar, Jason D. Gardner

School of Graduate Studies Faculty Publications

Alcohol-induced cardiomyopathy (ACM) has a poor prognosis with up to a 50% chance of death within four years of diagnosis. There are limited studies investigating the potential of abstinence for promoting repair after alcohol-induced cardiac damage, particularly in a controlled preclinical study design. Here, we developed an exposure protocol that led to significant decreases in cardiac function in C57BL6/J mice within 30 days; dP/dt max decreased in the mice fed alcohol for 30 days (8054 ± 664.5 mmHg/s compared to control mice: 11,188 ± 724.2 mmHg/s, p < 0.01), and the dP/dt min decreased, as well (−7711 ± 561 mmHg/s compared to control mice: −10,147 ± 448.2 mmHg/s, p < 0.01). Quantitative PCR was used to investigate inflammatory and fibrotic biomarkers, while histology was used to depict overt changes in cardiac fibrosis. We observed a complete recovery of function after abstinence (dP/dt max increased from 8054 ± 664 mmHg/s at 30 days to 11,967 ± 449 mmHg/s after abstinence, p < 0.01); further, both inflammatory and fibrotic biomarkers decreased after abstinence. These results lay the groundwork for future investigation of the molecular mechanisms underlying recovery from alcohol-induced damage in the heart.

Alt Free Flap Coverage After Carotid Endarterectomy In The Setting Of Severe Radiation Changes, Richard F. Guidry, Hannah E. Doran, Mark W. Stalder

School of Medicine Faculty Publications

Carotid endarterectomy with patch angioplasty is commonly performed for severe atherosclerotic disease to reduce stroke risk. After neck radiation, loss of tissue planes; reactive fibrosis of skin; contraction; and rarely, necrosis of skin may occur, leading to severe wound complications and possible exposure of carotid artery reconstruction. Historically, local myocutaneous flaps have been performed to provide soft tissue coverage; however, these procedures may be associated with increased donor site morbidity and can be affected by radiation changes. This report describes the novel use of a fasciocutaneous free flap for durable vascularized soft tissue, and the associated secondary benefit of improved …

Delayed Giant Pseudoaneurysm With Left-To-Right Shunt Following Postinfarct Ventricular Septal Perforation Repair, Yojiro Machii, Makoto Taoka, Yuki Hayashi, Atsushi Harada, Keita Kamata, Masashi Tanaka

The Texas Heart Institute Journal

Left ventricular pseudoaneurysm with a left-to-right shunt is extremely rare, requiring surgery if symptomatic; however, surgery has a high risk. Here, the case of a 77-year-old man with heart failure symptoms is reported, in which he develops a giant left ventricular pseudoaneurysm 16 months after ventricular septal perforation repair as a result of acute myocardial infarction, with mild shunt blood flow from the pseudoaneurysm to the right ventricle. Intraoperative findings showed a free wall rupture along the area where the patch was secured during the initial surgery. The patient was discharged on postoperative day 13, and postoperative examination revealed no …

Do We Still Need Aspirin In Coronary Artery Disease?, Muhammad Haisum Maqsood, Glenn N Levine, Neal D Kleiman, David Hasdai, Barry F Uretsky, Yochai Birnbaum

Faculty, Staff and Students Publications

Aspirin has for some time been used as a first-line treatment for acute coronary syndromes, including ST-elevation myocardial infarction, for secondary prevention of established coronary disease, and for primary prevention in patients at risk of coronary artery disease. Although aspirin has been in use for decades, the available evidence for its efficacy largely predates the introduction of other drugs, such as statins and P2Y12 inhibitors. Based on recent trials, the recommendation for aspirin use as primary prevention has been downgraded. In addition, P2Y12 inhibitors given as a single antiplatelet therapy have been associated with a lower incidence of bleeding than …

Biomarkers For Heart Failure Prediction And Prevention, Prasanti Alekhya Kotta, Vijay Nambi, Biykem Bozkurt

Faculty, Staff and Students Publications

Heart failure (HF) is a global pandemic affecting over 64 million people worldwide. Its prevalence is on an upward trajectory, with associated increasing healthcare expenditure. Organizations including the American College of Cardiology (ACC) and the American Heart Association (AHA) have identified HF prevention as an important focus. Recently, the ACC/AHA/Heart Failure Society of America (HFSA) Guidelines on heart failure were updated with a new Class IIa, Level of Evidence B recommendation for biomarker-based screening in patients at risk of developing heart failure. In this review, we evaluate the studies that have assessed the various roles and contributions of biomarkers in …

Chromosome 10q2432 Variants Associate With Brain Arterial Diameters In Diverse Populations: A Genome-Wide Association Study, Minghua Liu, Farid Khasiyev, Sanjeev Sariya, Antonio Spagnolo-Allende, Danurys L Sanchez, Howard Andrews, Qiong Yang, Alexa Beiser, Ye Qiao, Emy A Thomas, Jose Rafael Romero, Tatjana Rundek, Adam M Brickman, Jennifer J Manly, Mitchell Sv Elkind, Sudha Seshadri, Christopher Chen, Saima Hilal, Bruce A Wasserman, Giuseppe Tosto, Myriam Fornage, Jose Gutierrez

Faculty, Staff and Student Publications

Background: Brain arterial diameters (BADs) are novel imaging biomarkers of cerebrovascular disease, cognitive decline, and dementia. Traditional vascular risk factors have been associated with BADs, but whether there may be genetic determinants of BADs is unknown.

Methods and results: The authors studied 4150 participants from 6 geographically diverse population-based cohorts (40% European, 14% African, 22% Hispanic, 24% Asian ancestries). Brain arterial diameters for 13 segments were measured and averaged to obtain a global measure of BADs as well as the posterior and anterior circulations. A genome-wide association study revealed 14 variants at one locus associated with global BAD at genome-wide …

Green Tea Supplementation: An Effective Lifestyle Modification For Cholesterol Management, Samuel J. Nemati

MSN Capstone Projects

Hypercholesterolemia is an insidious disease and the leading factor to the deadliest killer in the United States – cardiovascular disease (Centers for Disease Control and Prevention, 2023a). Over 85 million American adults suffer from elevated cholesterol, and treatment can prove challenging and may require multiple modalities outside just pharmaceutical intervention – such as dietary and other lifestyle changes (Centers for Disease Control and Prevention, 2023b; Goldman, 2023). Green tea – among the most common teas consumed worldwide – exerts a uniquely antihyperlipidemic and cardioprotective effect that suggests its consideration as a potentially-viable nonpharmacological option for hypercholesterolemia (Harvard Health Publishing, 2012; …

Pm2.5 And Cardiovascular Diseases: State-Of-The-Art Review, Chayakrit Krittanawong, Yusuf Kamran Qadeer, Richard B. Hayes, Zhen Wang, George D. Thurston, Salim S. Virani, Carl J. Lavie

Office of the Provost

Air pollution, especially exposure to particulate matter 2.5 (PM2.5), has been associated with an increase in morbidity and mortality around the world. Specifically, it seems that PM2.5 promotes the development of cardiovascular risk factors such as hypertension and atherosclerosis, while being associated with an increased risk of cardiovascular diseases, including myocardial infarction (MI), stroke, heart failure, and arrhythmias. In this review, we seek to elucidate the pathophysiological mechanisms by which exposure to PM2.5 can result in adverse cardiovascular outcomes, in addition to understanding the link between exposure to PM2.5 and cardiovascular events. It is hypothesized that PM2.5 functions via 3 …

Design Of An Fgf-1-Fgf-2 Heterodimer Variant With Enhanced Stability And Cell Proliferation Activity, Nicholas Alan Pohlman

Chemistry & Biochemistry Undergraduate Honors Theses

The FGF-1 subfamily, composed of FGF-1 and FGF-2, assists in broad health-related processes such as cell proliferation and angiogenesis respectively.^1,2 The subfamily shows promising signs as a therapeutic, however, the inherent thermal instability leads to a low half-life in vivo.³ To assist in improving the stability, FGF-1 and FGF-2 were connected via a 12-residue glycine linker ultimately producing a heterodimer. This heterodimer was further examined to discover its novel properties. Inspiration for this project was drawn from previous research which performed five mutations on FGF-1 ultimately improving stability in the protein complex. In addition to these five …

Global Burden Of Cardiovascular Diseases And Risks, 1990-2022, George A. Mensah, Valentin Fuster, Christopher J.L. Murray, Gregory A. Roth, Geminn Louis C. Apostol

Ateneo School of Medicine and Public Health Publications

No abstract provided.

Using Noninvasive Calibrated Cuff Plethysmography To Observe The Effects Of Cold-Water Immersion On Arterial Compliance, Rita M. Grigorian

Biomedical Engineering: Graduate Reports and Projects

As the prevalence of cardiovascular diseases continues to exponentially grow in populations across the globe, the necessity of determining underlying factors, effective methods of diagnoses, and universally available preventive measures also grows. Early detection of endothelial dysfunction, a proven precursor of cardiovascular diseases, can be extremely impactful in encouraging preventative measures and early intervention before medical conditions become chronic. In recent years, ice plunging, a form of cryotherapy involving full body immersion in cold water, has gained popularity within circles of fitness and health practitioners, gaining the interest of people of all backgrounds. Certain parallels observed between the human physiological …

A Case Report Of Myocardial Infarction In A Young Transgender Man With Testosterone Therapy: Raising Awareness On Healthcare Issues In The Transgender Community And A Call For Further Research, Paul J Connelly, Joanna Osmanska, Matthew M Y Lee, Christian Delles, Margaret B Mcentegart, John Byrne

Faculty, Staff and Student Publications

BACKGROUND: People who are transgender may utilize masculinizing or feminizing gender-affirming hormonal therapy. Testosterone and oestrogen receptors are expressed throughout the cardiovascular system, yet the effects of these therapies on cardiovascular risk and outcomes are largely unknown. We report the case of a young transgender man with no discernible cardiovascular risk factors presenting with an acute coronary syndrome.

CASE SUMMARY: A 31-year-old transgender man utilizing intramuscular testosterone masculinizing gender-affirming hormonal therapy presented with central chest pain radiating to the left arm. He had no past medical history of hypertension, dyslipidaemia, diabetes, or smoking. Electrocardiography demonstrated infero-septal ST depression, and high-sensitivity …

Temporal Artery Pseudoaneurysm In A Pediatric Patient, Gowri Gowda, Donald Mendoza, Amanda Tullos, Jessica Zagory, Malachi Sheahan

School of Medicine Faculty Publications

Superficial temporal artery pseudoaneurysms are an uncommon vascular pathology that can present after head or facial trauma. Furthermore, they are rarely reported in the pediatric population. Ultrasound can be a useful tool in the diagnosis because it is easily accessible and can be rapidly acquired. We report a case that demonstrates the utility of ultrasound in the diagnosis of a superficial temporal artery pseudoaneurysm.

Intestinal Microbiome, Fecal Fermentation Profile, And Health Indices In Hiv Infected Men Versus Non-Infected Controls, Mary Andreae, Mary C. Andreae Mrs

Electronic Theses and Dissertations

Many HIV-positive (HIV+) males on Highly Active Anti-Retroviral Therapy (HAART) experience metabolic abnormalities, including Non-Alcoholic Fatty Liver Disease (NAFLD) and lipodystrophy. The intestinal microbiota and short chain fatty acids (SCFA), participate in bidirectional communication with their host. Dysbiosis in HIV+ males on HAART demonstrate a Prevotella-rich enterotype shaped by multiple factors including, medications, adiposity, diet, intestinal permeability, and lifestyle; our objective was to investigate these factors. 19 HIV+ and 21 HIV- males were enrolled. BMI and hip-to-waist ratio (H:W) were obtained, and FibroScan for liver health. Intestinal permeability markers Claudin-21, flagellin, and intestinal fatty acid binding protein (IFABP) in …

Improving Estimation Of Coronary Artery Disease Risk Using Haptoglobin Genotyping, Emily Kate Mewborn

Theses and Dissertations (ETD)

Atherosclerotic cardiovascular disease (ASCVD) continues to be the leading cause of death worldwide. While several risk factors contributing to disease progression are well-known, pitfalls and limitations exist for estimating if or when an individual will develop the disease. Coronary artery disease (CAD), a subtype of ASCVD, causes myocardial infarction, contributing to significant morbidity and mortality. Current ASCVD risk estimator calculators lack comprehensiveness and do not include genetic or social determinants of health information, which are known to affect ASCVD risk.

Haptoglobin (Hp) genotype also influences CAD risk. Hp is a protein that binds free hemoglobin released from physiologic or pathologic …

Interpretable Mechanistic And Machine Learning Models For Pre-Dicting Cardiac Remodeling From Biochemical And Biomechanical Features, Anamul Haque

All Dissertations

Biochemical and biomechanical signals drive cardiac remodeling, resulting in altered heart physiology and the precursor for several cardiac diseases, the leading cause of death for most racial groups in the USA. Reversing cardiac remodeling requires medication and device-assisted treatment such as Cardiac Resynchronization Therapy (CRT), but current interventions produce highly variable responses from patient to patient. Mechanistic modeling and Machine learning (ML) approaches have the functionality to aid diagnosis and therapy selection using various input features. Moreover, 'Interpretable' machine learning methods have helped make machine learning models fairer and more suited for clinical application. The overarching objective of this doctoral …

Biological Age Mediates The Effects Of Perceived Neighborhood Problems On Heart Failure Risk Among Black Persons, Ganga Bey, James Pike, Priya Palta, Anthony Zannas, Qian Xiao, Shelly-Ann Love, Gerardo Heiss

Faculty, Staff and Student Publications

OBJECTIVE: We assessed whether biological age, measured by the epigenetic clock GrimAge, mediates the association of objective and subjective neighborhood disadvantage with incident HF among Black persons.

METHODS: Participants were 1448 self-reported Black adults (mean age (standard deviation, SD) = 64.3 (5.5)) dually enrolled in two community-based cohorts in Jackson, Mississippi, the ARIC and JHS cohorts, who were free of HF as of January 1, 2000. Incident HF events leading to hospitalization through December 31, 2017, were classified using ICD-9 discharge codes of HF. Multilevel age- and sex-adjusted Cox causal mediation models were used to examine whether biological age (at …

Incidence, Risk Assessment And Prevention Of Sudden Cardiac Death In Cardiomyopathies, Marija Polovina, Carsten Tschöpe, Giuseppe Rosano, Marco Metra, Filippo Crea, Wilfried Mullens, Johann Bauersachs, Karen Sliwa, Rudolf A De Boer, Dimitrios Farmakis, Thomas Thum, Domenico Corrado, Antoni Bayes-Genis, Biykem Bozkurt, Gerasimos Filippatos, Andre Keren, Hadi Skouri, Brenda Moura, Maurizio Volterrani, Magdy Abdelhamid, Milika Ašanin, Gordana Krljanac, Milenko Tomić, Gianluigi Savarese, Marianna Adamo, Yuri Lopatin, Ovidiu Chioncel, Andrew J S Coats, Petar M Seferović

Faculty, Staff and Students Publications

Cardiomyopathies are a significant contributor to cardiovascular morbidity and mortality, mainly due to the development of heart failure and increased risk of sudden cardiac death (SCD). Despite improvement in survival with contemporary treatment, SCD remains an important cause of mortality in cardiomyopathies. It occurs at a rate ranging between 0.15% and 0.7% per year (depending on the cardiomyopathy), which significantly surpasses SCD incidence in the age- and sex-matched general population. The risk of SCD is affected by multiple factors including the aetiology, genetic basis, age, sex, physical exertion, the extent of myocardial disease severity, conduction system abnormalities, and electrical instability, …

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Anomalous Pulmonary Venous Return, Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wihelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L Mcbride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill A Rosenfeld, Daryl A Scott

Faculty, Staff and Students Publications

Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR. A definitive or probable diagnosis was made for 8 of those individuals yielding a diagnostic efficacy rate of 16.3%. We then analyzed molecular data from 62 individuals with APVR accrued from three databases to …