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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
Open Access. Powered by Scholars. Published by Universities.®
- Discipline
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- Medical Specialties (101)
- Internal Medicine (42)
- Cardiovascular Diseases (30)
- Obstetrics and Gynecology (15)
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- Nervous System Diseases (12)
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- Dermatology (6)
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- Keyword
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- AVM (3)
- Case report (3)
- Congenital abnormalities (3)
- Congenital heart defects (3)
- Congenital malformation (3)
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- Genetic disorders (3)
- Abdominal pain (2)
- Arrhythmia (2)
- Arteriovenous malformation (2)
- Bronchogenic cyst (2)
- COVID-19 (2)
- Congenital anomaly (2)
- Ehlers-Danlos Syndrome (2)
- Eisenmenger complex (2)
- Genetic diseases (2)
- Hemangioma (2)
- May-Thurner Syndrome (2)
- Myocardial bridging (2)
- Neoplasms (2)
- Patent foramen ovale (2)
- Pectus excavatum (2)
- Pregnancy (2)
- Pulmonary embolism (2)
- SARS-CoV-2 (2)
- Sickle cell (2)
- Sickle cell anemia (2)
- AAORCA (1)
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- Publication
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- South Atlantic Division GME Research Day 2024 (10)
- South Atlantic Division GME Research Day 2025 (10)
- South Atlantic Division GME Research Days 2026 (9)
- North Texas GME Research Forum 2026 (6)
- South Atlantic Division GME Research Day 2023 (6)
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- HCA Healthcare Journal of Medicine (5)
- MidAmerica Division GME Healthcare Symposium 2026 (4)
- North Texas GME Research Forum 2023 (4)
- North Texas Research Forum 2025 (4)
- Central & West Texas and San Antonio GME Research Day 2025 (3)
- Central & West Texas and San Antonio GME Research Day 2026 (3)
- Continental and Mountain Divisions GME Resarch Day 2026 (3)
- East Florida Division GME Research Day 2023 (3)
- South Atlantic Division GME Research Day 2022 (3)
- West Florida Division GME Research Day 2025 (3)
- West Florida Division GME Research Day 2026 (3)
- Continental, MidAmerica, & Mountain Divisions GME Research Day 2023 (2)
- Continental, MidAmerica, & Mountain Divisions GME Research Day 2024 (2)
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- Central & West Texas GME Research Day 2023 (1)
- East Florida Division GME Research Day 2024 (1)
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- Far West Division GME Research Day 2023 (1)
- Publication Type
Articles 1 - 30 of 108
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Recurrent Ventricular Tachycardia In Young Hcm Patient With Icd, Michael Rollins, Garza, Laura Preece
Recurrent Ventricular Tachycardia In Young Hcm Patient With Icd, Michael Rollins, Garza, Laura Preece
Central & West Texas and San Antonio GME Research Day 2026
No abstract provided.
The Case Of A Pain-Ridden Pregnancy In A Woman With Sickle Cell Disease, Katie Riffle, Linda Haddox
The Case Of A Pain-Ridden Pregnancy In A Woman With Sickle Cell Disease, Katie Riffle, Linda Haddox
Central & West Texas and San Antonio GME Research Day 2026
No abstract provided.
Symptomatic Chiari 1 Malformation In A 35-Year-Old Female, Ignatius Mmodebelu, Jaime Natividad, Jonathan Carpenter, Juan Rodriguez
Symptomatic Chiari 1 Malformation In A 35-Year-Old Female, Ignatius Mmodebelu, Jaime Natividad, Jonathan Carpenter, Juan Rodriguez
Central & West Texas and San Antonio GME Research Day 2026
No abstract provided.
Presentations Of Cutaneous Disease In Various Skin Pigmentations: Keratosis Pilaris, Henry Lim, Reem Ayoub, Madelyn Richards, Marshall Hall, Christian Scheufele, Dustin Wilkes, Michael Carletti, Stephen E. Weis
Presentations Of Cutaneous Disease In Various Skin Pigmentations: Keratosis Pilaris, Henry Lim, Reem Ayoub, Madelyn Richards, Marshall Hall, Christian Scheufele, Dustin Wilkes, Michael Carletti, Stephen E. Weis
HCA Healthcare Journal of Medicine
Keratosis pilaris (KP) is a common benign disorder involving hyperkeratosis of the skin. It is associated with other common dry skin disorders such as atopic dermatitis and ichthyosis vulgaris. Lesions are clinically characterized as symmetrically distributed, monomorphic, folliculocentric, hyperkeratotic papules with a variable degree of perifollicular erythema. The appearance can be likened to spikey bumps that are commonly located on the arms, legs, and buttocks. Awareness of KP is important as every primary care clinician will see patients with this disorder. Identification can support the diagnosis of other associated skin diseases. Education about KP and its treatment may alleviate psychological …
A Shocking Case Of Wolf Parkinson White (Wpw) Syndrome, Sarah Hendee, Bailey Reale, Tate Higgens, David Taylor, Dmitriy Scherbak
A Shocking Case Of Wolf Parkinson White (Wpw) Syndrome, Sarah Hendee, Bailey Reale, Tate Higgens, David Taylor, Dmitriy Scherbak
Continental and Mountain Divisions GME Resarch Day 2026
No abstract provided.
High Suspicion Of Congenital Long Qt Syndrome Diagnosis In A Polypharmacy Patient, Alexis Lopez Cruz, Grant Haden, Julianna Vecchio, Hasnan M. Ijaz, Thomas Alexander
High Suspicion Of Congenital Long Qt Syndrome Diagnosis In A Polypharmacy Patient, Alexis Lopez Cruz, Grant Haden, Julianna Vecchio, Hasnan M. Ijaz, Thomas Alexander
Gulf Coast Division GME Research Day 2026
No abstract provided.
When Ckd Isn't What It Seems: A Case Of Lect2 Amyloidosis, Ankita Ojha, Banshi M. Rathi
When Ckd Isn't What It Seems: A Case Of Lect2 Amyloidosis, Ankita Ojha, Banshi M. Rathi
Gulf Coast Division GME Research Day 2026
No abstract provided.
Acute Myocardial Infarction In A Patient With Concurrent Atherosclerotic Disease And Significant Myocardial Bridging, Jason Stanberry, Ankith Motkar, Daniela Salazar, Ahmed Tarbay, Kumaraswamy Nutalapati, Sabry Omar
Acute Myocardial Infarction In A Patient With Concurrent Atherosclerotic Disease And Significant Myocardial Bridging, Jason Stanberry, Ankith Motkar, Daniela Salazar, Ahmed Tarbay, Kumaraswamy Nutalapati, Sabry Omar
West Florida Division GME Research Day 2026
No abstract provided.
Case Report: Unique Presentation Of Mediastinal Mullerian Duct Cyst Developing Alongside Bronchial Cyst, Julia Dane, Stephanie Ngom Morris, Vaughan Marr, Bryan Steinberg
Case Report: Unique Presentation Of Mediastinal Mullerian Duct Cyst Developing Alongside Bronchial Cyst, Julia Dane, Stephanie Ngom Morris, Vaughan Marr, Bryan Steinberg
West Florida Division GME Research Day 2026
No abstract provided.
A Tale Of Two Primaries: Ectopic Papillary Thyroid Carcinoma In A Lung Resection With A Typical Carcinoma, Laura Luu, Laura Glasscock, Christina Maldonado, Vitaly Borodin
A Tale Of Two Primaries: Ectopic Papillary Thyroid Carcinoma In A Lung Resection With A Typical Carcinoma, Laura Luu, Laura Glasscock, Christina Maldonado, Vitaly Borodin
West Florida Division GME Research Day 2026
No abstract provided.
Acute Gastrointestinal Bleeding Associated With Cowden Syndrome: A Case Report, Gennipher A. Smith, Robert Keller
Acute Gastrointestinal Bleeding Associated With Cowden Syndrome: A Case Report, Gennipher A. Smith, Robert Keller
North Texas GME Research Forum 2026
No abstract provided.
Negative Imaging, Ongoing Hemorrhage: An Ulcerated Jejunal Avm Requiring Advanced Endoscopic Intervention, Joel Mathews, Trina Lewis, John Mathew, Long Hoang
Negative Imaging, Ongoing Hemorrhage: An Ulcerated Jejunal Avm Requiring Advanced Endoscopic Intervention, Joel Mathews, Trina Lewis, John Mathew, Long Hoang
North Texas GME Research Forum 2026
Small bowel bleeding is relatively uncommon, accounting for less than 10% of all gastrointestinal (GI) bleeds. Small bowel angiodysplasias are the most common cause of small bowel bleeding. These lesions can often be difficult to identify on radiographic imaging or endoscopy and tend to rebleed after intervention. Our case centers on an 86-year-old patient who presented with an acute GI bleed from an obscure ulcerated jejunal arteriovenous malformation (AVM); his past medical history includes an undisclosed prior upper GI bleed treated with endoscopic clipping, paroxysmal atrial fibrillation, type 2 diabetes, prostate cancer with prostatectomy, and other chronic conditions. He presented …
Challenges Of Thrombectomy In Submassive Pulmonary Embolism With Patent Foramen Ovale, Sana Khan, Syed Ahmed, Muhammad T. Siddique, Edic Stephanian
Challenges Of Thrombectomy In Submassive Pulmonary Embolism With Patent Foramen Ovale, Sana Khan, Syed Ahmed, Muhammad T. Siddique, Edic Stephanian
North Texas GME Research Forum 2026
BACKGROUND/ INTRODUCTION: Submassive, or intermediate-risk, pulmonary embolism (PE) is defined by preserved systemic blood pressure with evidence of right ventricular (RV) strain. The presence of a patent foramen ovale (PFO) in this setting significantly increases the risk of hypoxemia, paradoxical embolization, and procedural complications during catheter-based interventions. Mechanical thrombectomy has become an important treatment option for selected patients with intermediate- to high-risk PE; however, experience in patients with concomitant large PFOs remains limited.
CASE PRESENTATION: A 78-year-old woman presented with acute dyspnea, hypoxemia, and chest pain and was found to have a saddle PE with severe RV dilation and biomarker …
An Unusual Culprit Behind A Massive Pulmonary Embolism: Atypical May-Thurner Syndrome From Iliac Artery Aneurysm, Boney Lapsiwala, Jiaming Xue, Mayank Singh, Sai Krishan Reddy Dronadula, Sadia Zahid, Mian Yousef
An Unusual Culprit Behind A Massive Pulmonary Embolism: Atypical May-Thurner Syndrome From Iliac Artery Aneurysm, Boney Lapsiwala, Jiaming Xue, Mayank Singh, Sai Krishan Reddy Dronadula, Sadia Zahid, Mian Yousef
North Texas GME Research Forum 2026
Background: Venous thromboembolism (VTE) is a major cause of global morbidity and mortality. May-Thurner syndrome (MTS) is an iliofemoral venous compression syndrome caused by extrinsic compression of the left common iliac vein (LCIV), classically by the right common iliac artery at the level of the fifth lumbar vertebra. Although the estimated anatomic prevalence ranges from 18-49%, only 2-5% of cases are diagnosed during evaluation for lower-extremity deep vein thrombosis (DVT). Clinical manifestations range from asymptomatic venous compression to unilateral leg swelling, venous insufficiency, and acute iliofemoral DVT, with pulmonary embolism (PE) reported infrequently.
Case presentation: A 75-year-old man with hypertension, …
A Mixed Cause Of Heart Failure, Brandon West, Austin Meyer, Kenya Lindstrom, Jason Hall, Jennifer Griffith
A Mixed Cause Of Heart Failure, Brandon West, Austin Meyer, Kenya Lindstrom, Jason Hall, Jennifer Griffith
Continental and Mountain Divisions GME Resarch Day 2026
No abstract provided.
Elevated State Of Mind: A Case Of High-Altitude Worsening Chiari 1 Malformation, Lauren Walters, Brock Cardon, Levi Sundermeyer
Elevated State Of Mind: A Case Of High-Altitude Worsening Chiari 1 Malformation, Lauren Walters, Brock Cardon, Levi Sundermeyer
Continental and Mountain Divisions GME Resarch Day 2026
No abstract provided.
An Unusual Case Of Genetic Dilated Cardiomyopathy Unmasked By Covid-19 Infection, Greeshma Molugu, Daniel Mcmahan, Seline Haci, Giridhar Mundluru, Machaiah Madhrira
An Unusual Case Of Genetic Dilated Cardiomyopathy Unmasked By Covid-19 Infection, Greeshma Molugu, Daniel Mcmahan, Seline Haci, Giridhar Mundluru, Machaiah Madhrira
North Texas GME Research Forum 2026
Introduction: Titin (TTN) mutations are a well-known cause of dilated cardiomyopathy (DCM), occurring in approximately 25% of familial cases of idiopathic DCM and 18% of sporadic cases. Recognition and referral for genetic testing remains underutilized but has important prognostication and helps the patient better understand the disease transmission. This case report stresses the importance of a complete evaluation for genetic causes of DCM.
Case Presentation: A 21-year-old male who was adopted as an infant was hospitalized with COVID-19 infection and diagnosed with non-ischemic cardiomyopathy with an initial left ventricular ejection fraction (EF) of 10%. He was assumed to have DCM …
Cor Triatriatum Sinistrum: An Underrecognized Indication For Anticoagulation, Boney Lapsiwala, Karthik Kasireddy, Tenna Mathew, Babu Makkena
Cor Triatriatum Sinistrum: An Underrecognized Indication For Anticoagulation, Boney Lapsiwala, Karthik Kasireddy, Tenna Mathew, Babu Makkena
North Texas GME Research Forum 2026
Background: Cor triatriatum (CTS) is a rare congenital heart defect in which a fibromuscular membrane divides the atrium into two chambers, disrupting normal blood flow and potentially leading to circulatory impairment. Accounting for 0.1% to 0.4% of congenital heart diseases, CTS presents variably depending on the degree of left atrial obstruction. Patients may report exertional dyspnea, orthopnea, or palpitations; severe cases can progress to heart failure, pulmonary hypertension, or thromboembolic events. We present the case of a young adult male who developed symptomatic heart failure and atrial fibrillation and was incidentally found to have CTS on imaging.
Case presentation: A …
Atypical Del(5q) Mutation In Myelodysplastic Syndrome Presenting With Thrombocytopenia: A Case Report Of Tp53-Mutated High-Risk Biology, Shahzaib Maqbool, Munaf Siyamwala, Amelia Goslin, Shivani R. Scharf, Katsiaryna Laziuk
Atypical Del(5q) Mutation In Myelodysplastic Syndrome Presenting With Thrombocytopenia: A Case Report Of Tp53-Mutated High-Risk Biology, Shahzaib Maqbool, Munaf Siyamwala, Amelia Goslin, Shivani R. Scharf, Katsiaryna Laziuk
MidAmerica Division GME Healthcare Symposium 2026
No abstract provided.
Alpha 1 Antitrypsin Deficiency In Primary Care: A Case Presentation, John Sweetman, Gazala Parvin
Alpha 1 Antitrypsin Deficiency In Primary Care: A Case Presentation, John Sweetman, Gazala Parvin
MidAmerica Division GME Healthcare Symposium 2026
No abstract provided.
Intermittent Hypoxia In A Middle-Aged Woman With A Probable Bethlem Myopathy Carrier State And Suspected Complex Sleep-Related Hypoventilation, Jonathan Paul Ladera, Louis Orlando
Intermittent Hypoxia In A Middle-Aged Woman With A Probable Bethlem Myopathy Carrier State And Suspected Complex Sleep-Related Hypoventilation, Jonathan Paul Ladera, Louis Orlando
MidAmerica Division GME Healthcare Symposium 2026
No abstract provided.
When A Rare Neuromuscular Disorder Meets Covid-19: A Challenging Case Of Myotonic Dystrophy In The Intensive Care Unit, Pradeep Rajbhandari, Lawrence San Jose, Michael Waxman
When A Rare Neuromuscular Disorder Meets Covid-19: A Challenging Case Of Myotonic Dystrophy In The Intensive Care Unit, Pradeep Rajbhandari, Lawrence San Jose, Michael Waxman
MidAmerica Division GME Healthcare Symposium 2026
No abstract provided.
Successful Anesthetic Management Of Patient With Marfan Syndrome: Optimizing Cardiovascular Stability And Maternal Outcomes, M Roberts, C Cox, K Leavitt
Successful Anesthetic Management Of Patient With Marfan Syndrome: Optimizing Cardiovascular Stability And Maternal Outcomes, M Roberts, C Cox, K Leavitt
South Atlantic Division GME Research Days 2026
No abstract provided.
First Reported Robotic-Assisted Falciform Ligament Patch Repair Of An Iatrogenic Larrey-Type Anterior Diaphragmatic Defect Following Subxiphoid Pericardial Window, Christian M. Simon, Elisabeth Barrar, Husain Abbas
First Reported Robotic-Assisted Falciform Ligament Patch Repair Of An Iatrogenic Larrey-Type Anterior Diaphragmatic Defect Following Subxiphoid Pericardial Window, Christian M. Simon, Elisabeth Barrar, Husain Abbas
South Atlantic Division GME Research Days 2026
No abstract provided.
Shone Syndrome: Where Childhood Repair Is Just The Beginning, William Zvagelsky, Ebad Rahman, Ibrahim Fahdi
Shone Syndrome: Where Childhood Repair Is Just The Beginning, William Zvagelsky, Ebad Rahman, Ibrahim Fahdi
South Atlantic Division GME Research Days 2026
No abstract provided.
Case Report: Acute Rv Failure Post Cabg In The Setting Of Pectus Excavatum, Kim Nguyen, Mclean Beson, Heather Palomino, Derek Horstemeyer, Bryan Lee, Savan Ghandi
Case Report: Acute Rv Failure Post Cabg In The Setting Of Pectus Excavatum, Kim Nguyen, Mclean Beson, Heather Palomino, Derek Horstemeyer, Bryan Lee, Savan Ghandi
South Atlantic Division GME Research Days 2026
No abstract provided.
Consecutive Offspring With Major Midline Anomalies In The Setting Of Maternal Spastic Diplegia And A Wes-Identified Genetic Mutation, Kaitlyn Vu, Lillian Fagan, Alison Macleod, Anthony Royek
Consecutive Offspring With Major Midline Anomalies In The Setting Of Maternal Spastic Diplegia And A Wes-Identified Genetic Mutation, Kaitlyn Vu, Lillian Fagan, Alison Macleod, Anthony Royek
South Atlantic Division GME Research Days 2026
No abstract provided.
Evaluating The Impact Of Gabapentin As An Adjunct To Hydromorphone On Hospital Length Of Stay In Adults Admitted For Sickle Cell Pain Crises, Minh Chung, Taylor Johnson, Breveenn Kukan, Luis Ramos, Amethyst Wilder
Evaluating The Impact Of Gabapentin As An Adjunct To Hydromorphone On Hospital Length Of Stay In Adults Admitted For Sickle Cell Pain Crises, Minh Chung, Taylor Johnson, Breveenn Kukan, Luis Ramos, Amethyst Wilder
South Atlantic Division GME Research Days 2026
No abstract provided.
Maternal Cleidocranial Dysplasia – An Exceptionally Rare Skeletal Syndrome With Clinical Implications, Abigail Haythorn, Katherine Cuadrado, Anthony Royek
Maternal Cleidocranial Dysplasia – An Exceptionally Rare Skeletal Syndrome With Clinical Implications, Abigail Haythorn, Katherine Cuadrado, Anthony Royek
South Atlantic Division GME Research Days 2026
No abstract provided.
Fetal Trisomy 9 In The Setting Of Low Risk Nipt Aneuploidy Screening, Andrew Royek, Shea Mcgrinder, Lauren Boyle, Anthony Royek
Fetal Trisomy 9 In The Setting Of Low Risk Nipt Aneuploidy Screening, Andrew Royek, Shea Mcgrinder, Lauren Boyle, Anthony Royek
South Atlantic Division GME Research Days 2026
No abstract provided.