AI Article Synopsis
- Noncompaction of ventricular myocardium is a rare type of heart condition linked to developmental issues during embryo formation and is often associated with neuromuscular disorders.
- Its main symptoms include heart failure, irregular heartbeats (arrhythmias), and potential blood clots leading to embolic events.
- Diagnosis is primarily achieved through echocardiography techniques, with contrast echocardiography providing clearer results when traditional methods are inconclusive, as demonstrated in a specific patient case that also involved cardiac MRI for confirmation and treatment considerations.
Article Abstract
Noncompaction of ventricular myocardium is a rare cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium; its true prevalence is still uncertain. A strong association between noncompaction and neuromuscular disorders has been described. Its major clinical manifestations are heart failure, arrhythmias and systemic embolic events. Diagnosis of noncompaction of ventricular myocardium can be made by conventional two-dimensional and color Doppler echocardiography. Recently contrast echocardiography has been used to provide a definitive diagnosis in most cases in which conventional echocardiography could not do so. We describe the case of a patient with clinical suspicion of noncompaction of ventricular myocardium established by conventional two-dimensional and color Doppler echocardiography and definitive diagnosis, as well as additional information, obtained by cardiac magnetic resonance imaging. We also discuss the difficulties in defining the therapeutic approach.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
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 PDFSemi-Automatic Refinement of Myocardial Segmentations for Better LVNC Detection.
J 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 PDFCase Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation.
Front 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 PDFCongenital isolated left ventricular non-compaction in two juvenile dogs.
J 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.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!