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

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 …

Rare Presentation Of Primary Malignant Peripheral Nerve Sheath Tumor Of The Femur In Neurofibromatosis-1, Akshaj Pole, Danielle Ford, Elizabeth Pollard

North Texas Research Forum 2023

Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas, most commonly seen in patients with Neurofibromatosis type 1 (NF1), that are characterized as aggressive with high rate of local recurrence. Among NF1 patients, the risk of developing MNPSTs is approximately 8-13% over a lifetime. Primary MPNST is exceedingly rare, of which the vast majority are concentrated in the head and neck region. Here, we present a case of a 40-year-old male with NF1 who presented with a giant MPNST that originated in the right proximal femur. The mass was treated with complete surgical resection with right hip disarticulation. In a …

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 …

Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman

South Atlantic Division Research Day 2023

No abstract provided.

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.

Fever Of Unknown Origin Secondary To Staphylococcus Epidermidis Infective Endocarditis In A Patient With Aicardi Syndrome, Kimberly Sanchez Lopez, Elvis Caraballo Antonio, Gabriel Barciela Perez, Melanio J. Rodriguez, Yeissen Godinez

East Florida Research Day 2023

INTRODUCTION Aicardi syndrome is a rare neurodevelopmental disorder predominantly affecting females and characterized by agenesis of the corpus callosum, infantile spasms, and distinctive chorioretinal lacunae. We present the case of a 24-year-old female with a known history of Aicardi syndrome who presented with fever of unknown origin, ultimately attributed to Staphylococcus Epidermidis infective endocarditis involving a native valve.

CASE DESCRIPTION A 24-year-old female with a history significant for Aicardi syndrome and epilepsy presented to the emergency department for fever during the past week; her primary care physician sent her for outpatient blood work a few days prior, including blood culture, …

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.

A Sudden Fall: Hypokalemic Familial Thyrotoxic Periodic Paralysis, Haroutiun Hamzoian, Aswin Srinivasan, Reuben Plasencia, Branden Wilson, Rajeev Raghavan

Gulf Coast Division Research Day 2022

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 …

A Novel Case Of Bacterial Meningitis In A Patient With Loeys-Dietz, Lacey D. Colvin Do, Christy Fagg

Infectious Disease

No abstract provided.

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

Internal Medicine

No abstract provided.

Blue Rubber Bleb Nevus Syndrome, Danielle Kocsis, Anthony Dupuy, Stacey Wice, Aftab Ahmad, Tehmina Yaquibi

Internal Medicine

No abstract provided.