This unique case is of a man, followed clinically since infancy, who had a ventricular septal defect which closed spontaneously, a small arterial duct, and a minor degree of aortic coarctation, all without obvious symptoms. He later developed progressive cardiac failure which was attributed to some obscure form of congenital cardiomyopathy. He died at the age of 45 years. Necropsy showed a grossly abnormal arrangement of ventricular myocardial fascicles and bands, with absence of the papillary muscles causing tricuspid and mitral regurgitation. The various malformations are considered to be a gross example of a diffuse congenital cardiovascular disease complex, to the best of our knowledge previously undescribed.
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http://dx.doi.org/10.1017/s1047951100005138 | DOI Listing |
Radiol Case Rep
March 2025
Loyola University Medical Center and Loyola University Chicago, 2160 S First Ave, Maywood, IL 60153, USA.
Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, with a clinical presentation that can vary widely due to genetic and phenotypic diversity. While KFS can occur as an isolated anomaly, it is often associated with other congenital conditions, such as Sprengel deformity, which may present with or without an omovertebral bone, complicating diagnosis and management. This particular case also involves diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma.
View Article and Find Full Text PDFPediatr Pulmonol
January 2025
Department of Clinical Research, Faculty of Health sciences, University of Southern Denmark, Odense, Denmark.
Introduction: A main feature of CDH is lung hypoplasia and the related presentation of pulmonary hypertension and cardiac dysfunction. Multiple factors influence pulmonary status after CDH: degree of hypoplasia, ventilator-induced injury, altered growth and development of pulmonary structures, reduced diaphragm function and chest wall abnormalities. The evolution of pulmonary sequela in this population is still unclear.
View Article and Find Full Text PDFAME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFMedicina (Kaunas)
January 2025
Department of Health Science, University of Eastern Piedmont, 28100 Novara, Italy.
Congenital syphilis remains a significant global health concern, with severe morbidity and mortality if undiagnosed and untreated. Although many infants appear asymptomatic at birth, subtle clinical signs-including bullous lesions (congenital bullous syphilis, also known as pemphigus syphiliticus)-may facilitate early detection. Recognizing this rare manifestation is crucial for timely intervention, reducing serious outcomes.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Oral and Maxillofacial Surgery Department, Faculty of Dentistry, Tishreen University, Lattakia, Syria.
Introduction And Importance: Oral Lymphangioma is a rare benign tumor that arises from the lymphatic vessels in oral cavity. It is a development defect in the lymphatic system, which is less common than other types of vascular anomalies, and the incidence in the general population is very low, especially in the oral cavity. It typically presents as soft, painless swelling, often found on the tongue, lips or floor or the mouth.
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