Left ventricle non compaction

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...

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...

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++...

Left ventricular non-compaction cardiomyopathy, often known as LVNC, is a form of congenital cardiomyopathy that is extremely uncommon. It is a condition that may be identified by an elevated number of endomyocardial trabeculations as well as an increase in their prominence. Alcoholic cardiomyopathy, also known as ACM, is a non-ischemic form of dilated cardiomyopathy that is characterized by contractile failure and an enlargement of the heart ventricles. It is not entirely known whether or not there is a clinically significant overlap in phenotypic characteristics between the two illnesses...

Left ventricular non-compaction (LVNC) cardiomyopathy is a condition with increasing prevalence as cardiac imaging technology improves, although there is currently no diagnostic gold standard. Characterized by the presence of a bilayered myocardium with prominent trabeculations, LVNC cardiomyopathy has a wide range of presentations, from asymptomatic to severe heart failure, thromboembolism, and sudden cardiac death. We present the case of a 62-year-old male who was admitted for a heart failure exacerbation with a worsening ejection fraction and signs of increased trabeculations of the left ventricle on an echocardiogram...

Dilated cardiomyopathy (DCM) is one of the most common types of non-ischemic cardiomyopathy. DCM is characterized by left ventricle (LV) dilatation and systolic dysfunction without coronary artery disease or abnormal loading conditions. DCM is not a single disease entity and has a complex historical background of revisions and updates to its definition because of its diverse etiology and clinical manifestations. In cases of LV dilatation and dysfunction, conditions with phenotypic overlap should be excluded before establishing a DCM diagnosis...

BACKGROUND: Mitochondrial diseases are a group of genetic disorders caused by nuclear or mitochondrial DNA gene mutations and characterized by multiorgan disorders, including cardiomyopathy. Mitochondrial cardiomyopathy is occasionally complicated by hypertrophic cardiomyopathy with/without left ventricular systolic dysfunction, dilated cardiomyopathy, and left ventricular non-compaction. In such cases, the dilated left ventricle impairs coaptation of the mitral leaflets and leads to functional mitral regurgitation...

Ebstein's anomaly is a rare congenital heart disease characterized by tricuspid valve downward displacement and is associated with additional cardiac phenotypes such as left ventricle non-compaction. The genetic basis of Ebstein's anomaly has yet to be fully elucidated, although several genes (e.g., NKX2-5 , MYH7 , TPM1 , and FLNA ) may contribute to Ebstein's anomaly. Here, in two Ebstein's anomaly families (a three-generation family and a trio), we identified independent heterozygous nonsense variants in laminin subunit 3 <mml:math xmlns:mml="https://www...

Background : The maturation of cardiomyocytes is a rapidly evolving area of research within the field of cardiovascular medicine. Understanding the molecular mechanisms underlying cardiomyocyte maturation is essential to advancing our knowledge of the underlying causes of cardiovascular disease. Impaired maturation can lead to the development of cardiomyopathy, particularly dilated cardiomyopathy (DCM). Recent studies have confirmed the involvement of the ACTN2 and RYR2 genes in the maturation process, facilitating the functional maturation of the sarcomere and calcium handling...

Non-compaction of the ventricle (NCV) with a higher tendency to left ventricular involvement (NCLV) is a genetic disorder which can cause arrhythmias and cardiac arrest or remain asymptomatic. It is generally considered an isolated disease most frequently, while a few case reports have reported its association with cardiac anomalies. As the treatment strategies differ for NCV and cardiac anomalies, missed diagnosis of the concomitant cardiac diseases can result in poor response to treatment and prognosis. Here, we present 12 adult patients diagnosed with NCV and associated cardiovascular anomalies...

BACKGROUND: The anomalous origin of the left circumflex artery from the pulmonary artery (ACXAPA) is a very rare coronary anomaly. Only a few cases have been reported until today, from incidental findings to autopsy reports after sudden cardiac death. CASE SUMMARY: We report here for the first time the case of a man, previously monitored for asymptomatic left ventricular non-compaction cardiomyopathy, who presented with non-ST myocardial infarction and was diagnosed with ACXAPA...

BACKGROUND: This study explored the value of myocardial strain in the differential diagnosis of isolated left ventricular myocardial noncompaction (ILVNC) and dilated cardiomyopathy (DCM) using cardiac magnetic resonance (CMR) feature tracking technology. METHODS: This retrospective analysis was performed on consecutive patients (25 with ILVNC, 30 with DCM, and 30 healthy controls) presenting to Shanxi Cardiovascular Hospital. All ILVNC patients met echocardiographic and CMR criteria for ventricular non-compaction...

Left ventricular non-compaction (LVNC) is rare cardiomyopathy characterized by the presence of a two-layered myocardium with prominent trabeculations. It has high rates of mortality and morbidity. Clinical presentation could vary from asymptomatic patients to developing ventricular arrhythmias, thromboembolism, heart failure, and even sudden cardiac death. We present a 23-year-old primigravida with a childhood history of dilated cardiomyopathy secondary to post-viral myocarditis presenting at 32 weeks gestation with dyspnea on exertion...

Background : Noncompaction of ventricular myocardium is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. Case Report: A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops...

Cardiomyopathy is segregated into primary and secondary categories, leading to different phenotypes, including dilated, hypertrophic, and restrictive patterns. Dilated cardiomyopathy (DCM) is a mixed bag of heart diseases with the unique features of cardiac dilatation and subnormal to poor myocardial contractility. Dilated cardiomyopathy in the pediatric age group is generally characterized by unobstructed, dilated, and contracting left ventricular chamber defects and is associated with heart failure. Other causes include genetic juvenile-onset cardiomyopathy, drug-induced cardiomyopathy, stress-induced cardiomyopathy, hemochromatosis, endocrine causes (thyroid disorder and pheochromocytoma), autoimmune diseases, and nutritional deficiencies (selenium and thiamine)...

Left ventricular non-compaction (LVNC), a kind of cardiomyopathy, is characterized by excessive and prominent trabeculations in the mature left ventricle (LV). LVNC has been defined as the heart's developmental failure to fully form the compact myocardium during the latter stages of cardiac development. Clinical features vary from asymptomatic to symptomatic individuals with gradual loss of heart function, heart failure, thromboembolic events, arrhythmias, and sudden cardiac death are all possible outcomes...

OBJECTIVE: Peripartum cardiomyopathy (PPCM) diagnosis made by excluding identifiable causes of heart failure (HF) and occurs end of the pregnancy or during the postpartum period of five months. It presents a clinical HF spectrum with left ventricular systolic dysfunction. BACKGROUND: The purpose of this study is to retrospectively evaluate the clinical characteristics, cardiac magnetic resonance (CMR) imaging features, and end-points consisting of left ventricle recovery, left ventricular assist device implantation, heart transplantation, and all-cause mortality...

To elucidate underlying disease mechanisms, we compared transition of gadolinium-based contrast agent bolus in cardiac chambers in magnetic resonance imaging between young patents with cryptogenic ischemic stroke and stroke-free controls. We included 30 patients aged 18-50 years with cryptogenic ischemic stroke from the prospective Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers and Outcome (NCT01934725) study and 30 age- and gender-matched stroke-free controls...