Noncompaction of the ventricular myocardium is a rare congenital heart disease, presumably caused by the intrauterine arrest of the myocardial compaction process at the beginning of fetal development. It could remain asymptomatic or manifest with congestive heart failure, arrhythmias, and systemic thromboemboli. Here we report a 55-year-old man who was admitted to hospital with chest pain and dyspnea, whose further evaluation revealed left ventricular noncompaction cardiomyopathy accompanying myocardial bridging and stenosis of the right coronary artery.
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http://dx.doi.org/10.5114/pwki.2013.35455 | DOI Listing |
J Cardiovasc Electrophysiol
January 2025
Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Ryanodine receptor 2 (RyR2) protein, a calcium ion release channel in the sarcoplasmic reticulum (SR) of myocardial cells, plays a crucial role in regulating cardiac systolic and diastolic functions. Mutations in RyR2 and its dysfunction are implicated in various congenital heart diseases (CHDs). Studies have shown that mutations in the RYR2 gene, which encodes the RyR2 protein, are linked to several cardiac arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), calcium release deficiency syndrome (CRDS), and atrial fibrillation (AF).
View Article and Find Full Text PDFJ Clin Med
January 2025
Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.
Accurate segmentation of the left ventricular myocardium in cardiac MRI is essential for developing reliable deep learning models to diagnose left ventricular non-compaction cardiomyopathy (LVNC). This work focuses on improving the segmentation database used to train these models, enhancing the quality of myocardial segmentation for more precise model training. We present a semi-automatic framework that refines segmentations through three fundamental approaches: (1) combining neural network outputs with expert-driven corrections, (2) implementing a blob-selection method to correct segmentation errors and neural network hallucinations, and (3) employing a cross-validation process using the baseline U-Net model.
View Article and Find Full Text PDFFront Transplant
December 2024
Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.
View Article and Find Full Text PDFJ Vet Cardiol
December 2024
Department of Diagnostic Imaging, The Animal Hospital at Murdoch University, Perth, WA, Australia.
Two juvenile (five- and 10-month-old), male, neutered, Jack Russel terrier cross dogs, each presented primarily for respiratory signs of varying severity, were included in the study. The first presented for coughing and weakness, and the other presented in respiratory distress. A cardiac murmur was absent in both.
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