Purpose Of Review: Noncompaction of the left ventricle is a descriptive anatomical term and recently recognized primary cardiomyopathy. Cardiac imaging now allows for prompt detection. The specific etiology remains poorly understood, however, and the major genetic determinants are unknown. This review describes recent data showing the genetic heterogeneity and overlap with other cardiomyopathies. Understanding the genetics may depend on clarifying the distinctive diagnostic features and investigating the contribution of all known cardiomyopathy-causing genes with overlapping morphology.
Recent Findings: Adding to the known genes (TAZ, DTNA, LDB3 and LMNA), recent work has identified SCN5A, MYH7 and MYBPC3 as associated loci. LDB3 may also be a genetic modifier. Case reports and linkage studies suggest additional loci at 1p36, 1q43 and 11p15. Aside from Barth syndrome, other genetic and metabolic syndromes with noncompaction have been described. Despite this, large studies have failed to identify the etiology in the majority of patients.
Summary: Despite advances in detection, comprehensive clinical, pathological, genetic, and family studies are necessary to define the phenotypic overlap with other cardiomyopathies. Without a more precise understanding of its etiology, the answers to the questions regarding the clinical relevance and management of patients with noncompaction of the left ventricle will remain elusive.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MOP.0b013e3282f1ecbc | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Successful heart transplantation after 4 years of bridging with HeartWare HVAD for left ventricular noncompaction in an 11-year-old boy with prohibitively high pulmonary vascular resistance.
Ann Pediatr Cardiol
December 2024
Department of Cardiac Sciences, Institute of Heart and Lung Transplantation and Mechanical Circulatory Support, MGM Healthcare, Chennai, Tamil Nadu, India.
End-stage heart failure due to left ventricular noncompaction (LVNC) poses unique challenges for ventricular assist device implantation, like inflow cannula obstruction due to trabeculations. We report a case of an 11-year-old boy with LVNC who underwent successful HeartWare implantation as a bridge to transplant for high pulmonary vascular resistance and had successful heart transplantation after 4 years of HeartWare support.
View Article and Find Full Text PDFIdentifying risk factors and constructing a predictive model for heart failure combined with intracardiac thrombus in non-compaction cardiomyopathy patients.
Sci Rep
January 2025
Department of Cardiovascular Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, People's Republic of China.
This study aims to develop a nomogram prediction model for assessing the cardiogenic composite endpoint, which includes intracardiac thrombosis (ICT) combined with heart failure (HF) in patients with non-compaction cardiomyopathy (NCM) patients. We retrospectively analyzed clinical data from NCM patients (January 2018 to May 2024), who were randomly assigned to training and validation cohorts. Independent predictors were identified using logistic regression, and a nomogram model was developed.
View Article and Find Full Text PDFThe 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 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!