A case of massive hepatomegaly secondary to a hepatic congenital haemangioma in a preterm neonate is described. This infant died after withdrawal of neonatal intensive care support, following massive intracerebral haemorrhage. There remains considerable uncertainty regarding the classification of, and therapy for, hepatic vascular anomalies.
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http://dx.doi.org/10.1111/j.1440-1754.2007.01066.x | DOI Listing |
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Cardiology, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Pregnant women with congenital heart disease carry a high risk of complications, especially when cardiac function is suboptimal. Increasing evidence suggests that impaired right ventricular (RV) function has a negative effect on placental function, possibly through venous congestion. We report a case series of hepatic and renal venous flow patterns in pregnant women with right ventricular dysfunction after repaired Tetralogy of Fallot (ToF), relative to those observed in normal pregnancy and preeclampsia.
View Article and Find Full Text PDFCureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFCureus
December 2024
Cardiology, Lower Bucks Hospital, Bristol, USA.
Inferior vena cava (IVC) anomalies are rare congenital pathologies related to variations of agenesis, hypoplasia, or atresia, predisposing patients to thromboembolic events secondary to an alteration in venous drainage with resultant stasis. This is a case report of a 27-year-old male without significant medical history presenting for a fall after playing recreational basketball with associated pain and swelling in his left lower extremity. After his symptoms progressively worsened, he came to the emergency room for an evaluation where an ultrasound (US) of the extremity showed extensive deep vein thromboses (DVT).
View Article and Find Full Text PDFJ Am Coll Cardiol
December 2024
Division of Cardiology, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Background: There are no contemporary reports that highlight the national outcomes for children with congenital heart disease (CHD) undergoing ventricular assist device (VAD) implantation.
Objectives: This study sought to evaluate differences in VAD outcomes for children with CHD to those with non-CHD as well as those with univentricular CHD to those with biventricular CHD.
Methods: Data for CHD and non-CHD patients from the multicenter ACTION (Advanced Cardiac Therapies Improving Outcomes Network) undergoing VAD implantation from April 2018 to February 2023 were included.
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