Non-compaction

Objective: To investigate the risk factors and long-term prognosis of major adverse cardiovascular events(MACEs) in patients with dilated cardiomyopathy (DCM). Methods: This study was a single-center retrospective cohort study. Clinical information from 300 patients with DCM hospitalized in Peking Union Medical College Hospital from April 2013 to April 2023 was collected. Based on echocardiography results, the patients were divided into two groups: isolated DCM and DCM with left ventricular non-compaction cardiomyopathy (LVNC)...

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BACKGROUND: Functional assessment of compact myocardium and hypertrabeculations in left ventricular non-compaction (LVNC) is underestimated with regards to the morphological spectrum of disease. We aimed to assess whether measuring concurrently left ventricular (LV) volume, mass and ejection fraction (LVEF) with and without trabeculation inclusion on cine magnetic resonance (cineMR) could help diagnose patients with LVNC by comparison to normal individuals with an excess of myocardial trabeculations...

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15-40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported...

Pediatric stroke, though uncommon, is often underdiagnosed due to subtle symptoms and delayed recognition. Cardiac diseases, accounting for up to 33% of pediatric ischemic strokes, play a significant role. This case report explores the rare occurrence of ischemic stroke in a 15-year-old boy with left ventricular non-compaction syndrome (LVNC). It underscores the complexity of managing pediatric ischemic stroke, particularly in the context of LVNC, emphasizing the challenges in timely diagnosis and management...

INTRODUCTION: Left ventricular trabeculations (LVTs) are common findings in athletes. Limited information exists regarding clinical significance, management, and outcome. OBJECTIVES: To study the prevalence and morphologic characteristics of LVTs in elite athletes, with a focus on clinical correlates and prognostic significance. METHODS: We enrolled 1.492 Olympic elite athletes of different sports disciplines with ECG, echocardiogram, and exercise stress test...

PURPOSE: Preeclampsia/Eclampsia (PE/E) poses significant risks to neonatal cardiac health. Traditional echocardiographic methods have limitations in detailing these impacts. This study hypothesized that echocardiographic radiomics could provide a more comprehensive assessment of the cardiac changes in neonates affected by PE/E. METHOD: In a comprehensive analysis, 2594 neonates underwent echocardiographic screening. From these, 556 were selected for detailed radiomics analysis, focusing on cardiac shape, movement, and texture features...

No abstract text is available yet for this article.

STUDY QUESTION: Does the change in endometrial thickness (EMT) from the end of the follicular/estrogen phase to the day of embryo transfer (ET) determine subsequent pregnancy outcomes? SUMMARY ANSWER: Endometrial compaction from the late-proliferative to secretory phase is not associated with live birth rate (LBR) and other pregnancy outcomes. WHAT IS KNOWN ALREADY: Endometrial compaction has been suggested to be indicative of endometrial responsiveness to progesterone, and its association with ET outcome has been investigated but is controversial...

The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic aortic aneurysm, dissection, and left ventricular non-compaction. We used zebrafish as an in vivo model to investigate whether or not the variants might cause functional or histopathological abnormalities in the heart...

INTRODUCTION: There has been an upsurge in the reporting of cases of Left Ventricular Noncompaction (LVNC) cardiomyopathy in medical literature in the last 35 years due to advances in medical imaging.The condition was first described in 1926 and the first reported case by echocardiography was in 1984. The American Heart Association considers LVNC a primary cardiomyopathy of genetic origin, while the European Society of Cardiology and the World Health Organization grouped it as an unclassified cardiomyopathy...

Left ventricular non-compaction (LVNC) is a myocardial disease characterized by a two-layered structure typically seen at the apical and lateral left portions of the ventricular myocardium, distal to the papillary muscles. While considered a rare disease, its prevalence in children is increasing due to the increased awareness of this condition and improved resolution of imaging techniques. The etiology is heterogeneous, ranging from inherited conditions to acquired diseases. Although many patients are asymptomatic, some patients may experience adverse events, including heart failure, arrhythmias, or thromboembolic events...

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterised by unexplained left ventricular hypertrophy in the absence of abnormal loading conditions. The global prevalence of HCM is estimated to be 1 in 250 in the general population. It is caused due to mutations in genes coding for sarcomeric proteins. α-tropomyosin (TPM1) is an important protein in the sarcomeric thin filament which regulates sarcomere contraction. Mutations in TPM1 are known to cause hypertrophic cardiomyopathy, dilated cardiomyopathy and left ventricular non-compaction...

Left ventricular (LV) non-compaction (LVNC) is a rare genetic cardiomyopathy due to abnormal intra-uterine arrest of compaction of the myocardial fibers during endomyocardial embryogenesis. Due to the partial or complete absence of LV compaction, the structure of the LV wall shows characteristic abnormalities, including a thin compacted epicardium and a thick non-compacted endocardium with prominent trabeculations and deep intertrabecular recesses. LVNC is frequently associated with chronic heart failure, life-threatening ventricular arrhythmias, and systemic embolic events...

INTRODUCTION: Basal cardiovascular risk assessment in cardio-oncology is essential. Integrating clinical information, ECG and transthoracic echocardiogram can identify concealed inherited cardiomyopathies (ICMPs) with potential added risk of cardiotoxicity. We aimed to evaluate the impact of our Cardio-Oncology Unit design in detecting concealed ICMPs. METHODS: We carried out a retrospective study of all consecutive breast cancer patients referred to the Cardio-Oncology Unit for cardiac evaluation (2020-2022)...

Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent trabeculae protruding into the left ventricular lumen and deep intertrabecular recesses. LVNC can manifest in isolation or alongside other heart muscle diseases. Its occurrence among children is rising due to advancements in imaging techniques. The origins of LVNC are diverse, involving both genetic and acquired forms. The clinical manifestation varies greatly, with some cases presenting no symptoms, while others typically manifesting with heart failure, systemic embolism, and arrhythmias...

We continue our investigation of the interplay between causal structures on symmetric spaces and geometric aspects of Algebraic Quantum Field Theory. We adopt the perspective that the geometric implementation of the modular group is given by the flow generated by an Euler element of the Lie algebra (an element defining a 3-grading). Since any Euler element of a semisimple Lie algebra specifies a canonical non-compactly causal symmetric space <mml:math xmlns:mml="https://www.w3.org/1998/Math/MathML"><mml:mrow><mml:mi>M</mml:mi><mml:mo>=</mml:mo><mml:mi>G</mml:mi><mml:mo>/</mml:mo><mml:mi>H</mml:mi></mml:mrow></mml:math>, we turn in this paper to the geometry of this flow...

This study found that the compact spike locus of ANK-15 is on chromosome 5D instead of 2B. We have identified a new allele of AP2L-D5 as the candidate causal polymorphism. Spike architecture is a key determinant of wheat yield, a crop which supports much of the human diet but whose yield gains are stagnating. Spike architecture mutants offer opportunities to identify genetic factors contributing to inflorescence development. Here, we investigate the locus underlying the compact spike phenotype of mutant line ANK-15 by conducting mRNA-sequencing and genetic mapping using ANK-15 and its non-compact spike near-isogenic line Novosibirskaya 67 (N67)...

RBM20 mutations account for 3 % of genetic cardiomypathies and manifest with high penetrance and arrhythmogenic effects. Numerous mutations in the conserved RS domain have been described as causing dilated cardiomyopathy (DCM), whereas a particular mutation (p.R634L) drives development of a different cardiac phenotype: left-ventricular non-compaction cardiomyopathy. We generated a mutation-induced pluripotent stem cell (iPSC) line in which the RBM20-LVNC mutation p.R634L was introduced into a DCM patient line with rescued RBM20-p...

Accurate diagnosis of Left Ventricular Noncompaction Cardiomyopathy (LVNC) is critical for proper patient treatment but remains challenging. This work improves LVNC detection by improving left ventricle segmentation in cardiac MR images. Trabeculated left ventricle indicates LVNC, but automatic segmentation is difficult. We present techniques to improve segmentation and evaluate their impact on LVNC diagnosis. Three main methods are introduced: (1) using full 800 × 800 MR images rather than 512 × 512; (2) a clustering algorithm to eliminate neural network hallucinations; (3) advanced network architectures including Attention U-Net, MSA-UNet, and U-Net++...