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http://dx.doi.org/10.1007/s10165-009-0268-8 | DOI Listing |
JACC Case Rep
September 2025
Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA; Northwestern Feinberg School of Medicine, Chicago, Illinois, USA.
Background: Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder (CTD) with musculoskeletal, craniofacial, and cardiovascular features with a prevalence of approximately 1:50,000. Morbidity and mortality often occur earlier in patients with LDS compared to patients with other CTDs.
Case Summary: We present a teenager with subacute heart failure, 4/6 holosystolic murmur with diastolic rumble, facial differences, and arachnodactyly.
Pediatr Crit Care Med
September 2025
Waisman Brain Imaging Laboratory, University of Wisconsin, Madison, WI.
Objectives: Elevated intracranial pressure (ICP) is a complication of severe traumatic brain injury (TBI) that carries a risk of secondary brain injury. This study investigated the association between ICP burden and brain injury patterns on MRI in children with severe TBI.
Design, Setting, And Patients: Secondary analysis of the Approaches and Decisions in Acute Pediatric TBI (ADAPT) study, which included children with severe TBI (Glasgow Coma Scale score < 9) who received a clinical MRI within 30 days of injury.
Eur Heart J Case Rep
September 2025
Feinberg School of Medicine, Northwestern University, 303E Chicago Ave, Ward 1-003, Chicago, IL 60611, USA.
Background: Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.
Case Summary: A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15.
Front Endocrinol (Lausanne)
September 2025
Neurosurgery Department, 10th Military Research Hospital and PolyClinic SPZOZ, Bydgoszcz, Poland.
Background: Pheochromocytoma (PCC) is a rare neuroendocrine tumor, with 10-15% of cases showing malignant behavior defined by metastatic spread, including exceptionally rare central nervous system (CNS) involvement. Brain metastases present unique diagnostic and therapeutic challenges due to their potential to impair neurological function. This study reports a case of malignant PCC (mPCC) with CNS metastases and a systematic review to clarify the clinical patterns, management strategies, and prognostic factors.
View Article and Find Full Text PDFRev Cardiovasc Med
August 2025
The Heart Institute, Department of Pediatrics, University of Tennessee Health and Science Center, Memphis, TN 38103, USA.
Left ventricular noncompaction (LVNC), also called noncompaction cardiomyopathy (NCM), is a myocardial disease that affects children and adults. Morphological features of LVNC include a noncompacted spongiform myocardium due to the presence of excessive trabeculations and deep recesses between prominent trabeculae. Incidence and prevalence rates of this disease remain contentious due to varying clinical phenotypes, ranging from an asymptomatic phenotype to fulminant heart failure, cardiac dysrhythmias, and sudden death.
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