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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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- Pulmonary embolism (2)
- AVM (1)
- Anticoagulation (1)
- COVID-19 (1)
- CTS (1)
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- Congenital anomaly (1)
- Cor triatriatu (1)
- Corona virus (1)
- Cowden syndrome (1)
- DCM (1)
- Deep vein thrombosis (1)
- Dilated cardiomyopathy (1)
- Gastrointestinal bleeding (1)
- Genetic testing (1)
- Heart septal defects (1)
- Hereditary syndromes (1)
- Iliac artery aneurysm (1)
- Jejunal arteriovenous malformation (1)
- MTS (1)
- May-Thurner Syndrome (1)
- Medical imaging (1)
- Multiple hamartoma syndrome (1)
- Neoplasms (1)
- PE (1)
- PFO (1)
- Patent foramen ovale (1)
- SARS-CoV-2 (1)
- Sinister (1)
- TTN (1)
- Titin mutations (1)
Articles 1 - 6 of 6
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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, …
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 …