Apical hypertrophic cardiomyopathy is an uncommon morphologic variant of hypertrophic cardiomyopathy, which is rarely diagnosed in childhood. To date, very few cases of asymptomatic children younger than 18 years have been reported in the literature. To the best of our knowledge, this is the first case of paediatric apical hypertrophic cardiomyopathy presenting with exertional chest pain, with characteristic electrocardiographic, echocardiographic, MRI, and cardiac angiography findings.
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http://dx.doi.org/10.1017/S1047951119002403 | DOI Listing |
Cureus
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 PDFJIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
March 2023
Division of Cardiothoracic Surgery, Department of Surgery, Washington University in St Louis School of Medicine, St Louis, Missouri.
Restrictive or hypertrophic cardiomyopathy presents a challenge to left ventricular assist device placement because of the small left ventricle cavity. Cases have described inflow cannulation of the HeartWare HVAD by expanded polytetrafluoroethylene conduit through the atrial septum to the left atrium. We applied this technique to an adult man with restrictive cardiomyopathy and pulmonary hypertension using the HeartMate 3, which successfully supported the patient and led to significant reduction in pulmonary artery pressure.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2023
Department of Surgery, Mount Sinai Hospital, Chicago, Illinois.
A 26-year-old man with hypertrophic obstructive cardiomyopathy and an automatic implantable cardioverter-defibrillator (AICD) sustained a gunshot injury to the left side of his chest wall, resulting in direct impact of the bullet into the AICD generator. The injury resulted in a dent in the outer case along with damage to the generator battery and device deactivation. There was no associated intrathoracic injury.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
March 2024
Department of Anesthesiology and Intensive Care, Herzzentrum Leipzig, Leipzig, Germany.
Background: This study explored the correlation between the 3-dimensional aorto-mitral angle and pressure gradients in patients with obstructive hypertrophic cardiomyopathy (HCM) undergoing septal myectomy, with or without aortic shortening.
Methods: A single-site, retrospective observational study was conducted at a tertiary-level hospital; 67 patients underwent septal myectomy for obstructive HCM. Preoperative and postoperative transesophageal images were analyzed offline to measure the end-systolic 3-dimensional aorto-mitral angle with Mitral Valve Quantification software and Doppler-derived pressure gradients.
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