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1.
Cardiol Young ; : 1-3, 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39354844

RESUMEN

Coronary artery compression by a dilated pulmonary artery is a rare complication in patients with tetralogy of Fallot with absent pulmonary valve. We present a case in which this condition manifested at two months of age, with ventricular fibrillation as the initial symptom of myocardial ischaemia. It is important to recognise that this potentially fatal complication can occur in early infancy.

2.
EMBO Rep ; 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39358550

RESUMEN

Becker muscular dystrophy (BMD) is an X-linked disorder due to in-frame mutations in the DMD gene, leading to a less abundant and truncated dystrophin. BMD is less common and severe than Duchenne muscular dystrophy (DMD) as well as less investigated. To accelerate the search for innovative treatments, we developed a rat model of BMD by deleting the exons 45-47 of the Dmd gene. Here, we report a functional and histopathological evaluation of these rats during their first year of life, compared to DMD and control littermates. BMD rats exhibit moderate damage to locomotor and diaphragmatic muscles but suffer from a progressive cardiomyopathy. Single nuclei RNA-seq analysis of cardiac samples revealed shared transcriptomic abnormalities in BMD and DMD rats and highlighted an altered end-addressing of TMEM65 and Connexin-43 at the intercalated disc, along with electrocardiographic abnormalities. Our study documents the natural history of a translational preclinical model of BMD and reports a cellular mechanism for the cardiac dysfunction in BMD and DMD offering opportunities to further investigate the organization role of dystrophin in intercellular communication.

3.
Eur J Heart Fail ; 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39359033

RESUMEN

AIMS: Pilot studies indicate that immunoadsorption with subsequent IgG substitution (IA/IgG) induces beneficial effects in patients with dilated cardiomyopathy (DCM) and heart failure. This placebo-controlled study investigates whether IA/IgG treatment enhances left ventricular (LV) systolic function as compared to a control group receiving pseudo-treatment. METHODS: This multicentre, randomized, double-blind, parallel-group trial aims to include 200 patients with heart failure due to DCM (LV ejection fraction [LVEF] <40%) on optimized guideline-directed heart failure medication. Participants are randomly assigned in a 1:1 ratio to IA/IgG using protein-A columns, or to pseudo-immunoadsorption followed by an intravenous infusion without IgG. Follow-up visits take place by telephone after 1 and 3 months and at the study centres after 6, 12 and 24 months. The primary efficacy endpoint is the change in LVEF from baseline to 6 months determined by contrast echocardiography, analysed at a core lab. In addition, LV end-diastolic and end-systolic volumes will be analysed as secondary endpoints over the entire study period to assess whether IA/IgG affects LV remodelling. As main secondary outcome, a composite of all-cause death, cardiac resuscitation, hospitalization for heart failure, and need for cardiac surgery to improve myocardial pump function will be evaluated after 24 months. In addition, exploratory outcomes as well as safety endpoints related to the treatment will be assessed throughout the whole study period. CONCLUSION: IASO-DCM is a randomized study which will provide comprehensive insights into the effects of immunoadsorption with subsequent IgG substitution in patients with DCM.

4.
Artículo en Inglés | MEDLINE | ID: mdl-39365514

RESUMEN

Aortic lesions, exemplified by bicuspid aortic valves (BAVs), can complicate congenital heart defects, particularly in Turner syndrome patients. The combination of BAV, dilated ascending aorta, and an elongated aortic arch presents complex hemodynamics, requiring detailed analysis for tailored treatment strategies. While current clinical decision-making relies on imaging modalities offering limited biomechanical insights, integrating high-performance computing and fluid-structure interaction algorithms with patient data enables comprehensive evaluation of diseased anatomy and planned intervention. In this study, a patient-specific workflow was utilized to biomechanically assess a Turner syndrome patient's BAV, dilated ascending aorta, and elongated arch. Results showed significant improvements in valve function (effective orifice area, EOA increased approximately twofold) and reduction in valve stress (~ 1.8-fold) following virtual commissurotomy, leading to enhanced flow dynamics and decreased viscous dissipation (~ twofold) particularly in the ascending aorta. However, increased viscous dissipation in the distal transverse aortic arch offset its local reduction in the AAo post-intervention, emphasizing the elongated arch's role in aortic hemodynamics. Our findings highlight the importance of comprehensive biomechanical evaluation and integrating patient-specific modeling with conventional imaging techniques for improved disease assessment, risk stratification, and treatment planning, ultimately enhancing patient outcomes.

6.
Front Pediatr ; 12: 1463903, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39386013

RESUMEN

Background: Alström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal dysfunction. The disease exhibits marked interindividual variability, both in clinical manifestations and age of onset. Several attempts have been made to establish a relationship between phenotype and genotype, with little success. Methods: We present the case of an infant who presented with dilated cardiomyopathy, above-average weight and neurosensory deficits, raising the suspicion for Alström syndrome, later confirmed through genetic testing. Moreover, we conducted an extensive literature search to identify all reported cases having the same variant as our patient, in order to evaluate whether specific mutated alleles have a role in determining phenotype-genotype associations. Results: A 4-month-old female infant with a recent history of bronchiolitis was referred to our centre due to a systolic murmur. In our service, the clinical exam was significant for above-average weight, dyspnea, wheezing and a grade II systolic murmur. Echocardiography revealed dilated cardiomyopathy with severe systolic dysfunction of the left ventricle. Laboratory investigations revealed elevated NT-proBNP and troponin levels, along with positive IgM antibodies for CMV and EBV. Dilated cardiomyopathy attributed to viral myocarditis was suspected. Treatment with ACE inhibitors and diuretics was started, with a favourable response initially. However, after a few months, the patient presented with vertical nystagmus and head bobbing. The ophthalmologic exam revealed cone-rode dystrophy. Considering the constellation of symptoms, Alström syndrome was suspected. Genetic testing revealed a homozygous variant [c.4156dup (p.Thr1386Asnfs*15)] in the ALMS1 gene, confirming the diagnosis. Conclusion: Our literature review revealed 8 additional cases harbouring the same variant as our patient, five in a heterozygous state, two in a homozygous state and one with only one allele identified. The identified patients presented high heterogeneity of clinical manifestations and age of onset. The heterogeneity persisted even in patients with homozygous variants, suggesting the involvement of factors beyond the specific disease-causing variant in determining disease manifestation. Therefore, genotype-phenotype correlations might not be supported by specific variants.

7.
Clin Kidney J ; 17(10): sfae249, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39391590

RESUMEN

Obstructive nephropathy (ON) is a common and reversible cause of post-renal acute kidney injury (AKI) and may be caused by a variety of conditions. It occurs when both the upper urinary tracts are obstructed, or when one tract is obstructed in patients with a solitary kidney. ON is suspected whenever there is evidence of hydronephrosis at imaging. However, not all patients with obstruction develop hydronephrosis and significant obstruction can be present in the absence of hydronephrosis. This syndrome is called non-dilated obstructive uropathy (NDOU). It accounts for about 5% of cases of urinary obstruction and the diagnosis can be challenging. The current paper provides an overview of the literature aiming to identify the main causes of NDOU and its clinical presentation, in order to clarify when to suspect it among AKI cases. A narrative review was performed due to the overall low quality of the available evidence. Only patients with post-renal AKI and a non-dilated or minimal dilation of the intrarenal collecting system were included. As evidenced by our review, NDOU is most prevalent in the fifth and sixth decades of life and affects mainly the male gender. On hospital admission serum creatinine levels are usually very high. Among the most common clinical presentations are oliguria/anuria, abdominal pain, signs of retention such as oedema or pleural effusion, and nausea/vomiting. About three out of four cases of NDOU are due to an ab-extrinsic compression of the ureters caused by retroperitoneal fibrosis or malignant disease. An effective and minimally invasive urinary diversion is obtained with ureteric stenting or a percutaneous nephrostomy. A correct diagnosis of NDOU may be challenging but it is of paramount importance as it can lead to a prompt management with a potential complete resolution of both obstruction and acute renal failure.

8.
Indian J Otolaryngol Head Neck Surg ; 76(5): 4858-4861, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39376321

RESUMEN

Tinnitus refers to the perception of sound without any external stimuli which can be pulsatile or non-pulsatile. Dilated mastoid emissary vein (MEV) can cause pulsatile tinnitus. Herein, we report a case of persistent pulsatile tinnitus with dilated MEV managed successfully with percutaneous coiling of MEV in a 36 years male.

9.
Cureus ; 16(9): e68871, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39376885

RESUMEN

This case report details the successful anaesthetic management of a 65-year-old male with severe dilated cardiomyopathy, coronary artery disease, and extensive cardiovascular risk factors scheduled for elective right inguinal hernioplasty with hemiorchidectomy. The anaesthetic approach, including regional nerve blocks (ilioinguinal, iliohypogastric, genital branch of genitofemoral) and transversus abdominis plane block, successfully minimised cardiac stress and maintained hemodynamic stability throughout the procedure.

10.
Int J Cardiol ; 418: 132617, 2024 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-39370047

RESUMEN

BACKGROUND: Early precise identification of high-risk dilated cardiomyopathy (DCM) phenotype is essential for clinical decision-making and patient surveillance. The aim of the study was to assess the prognostic value of enhanced cine cardiac magnetic resonance (CMR)-based radiomics in DCM. METHODS: We prospectively enrolled 401 (training set: 281; test set: 120) DCM patients. Radiomic features were extracted from enhanced cine images of entire left ventricular wall and selected by the least absolute shrinkage and selection operator. Different predictive models were built using logistic regression classifier to predict all-cause mortality and heart transplantation. Model performances were compared with the area under the receiver operating characteristic curves (AUCs). Kaplan-Meier curves, log-rank test, and Cox regression were used for survival analysis. RESULTS: Endpoint events occurred in 65 patients over a median follow-up period of 25.4 months. 13 radiomic features were finally selected. The Rad_Combined model integrating clinical characteristics, CMR parameters and radiomics features achieved the best performance with an AUC of 0.836 and 0.835 in the training and test sets, respectively. High-risk groups with endpoint events defined by the Rad_Combined model had significantly shorter survival time than low-risk group in both the training [Hazard Ratio (HR) = 7.74, P < 0.001] and test sets (HR = 4.84, P < 0.001). CONCLUSION: The Rad_Combined model might serve as an effective tool to help risk stratification and clinical decision-making for patients with DCM. TRIAL REGISTRATION: Chinese Clinical Trial Registry, ChiCTR1800017058 by the ethics committee of West China hospital,Sichuan University.

11.
Cureus ; 16(9): e69133, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39398654

RESUMEN

Bilateral dilated pupils are an ominous clinical sign of brainstem dysfunction, which uniformly leads to a bad prognosis for the patient. In some rare instances in adult patients, it could be reversible. We present a clinical case of an elderly stroke patient with bilateral dilated pupils with a surprisingly favorable clinical outcome. An 80-year-old female patient presented in the emergency department in a coma, areflexia, and bilaterally dilated non-reactive pupils. One and a half hours ago the patient suddenly lost consciousness and became unresponsive. A computed tomography (CT) scan showed a hyperdense basilar tip, and CT angiography confirmed the presence of a defect in the filling of the basilar tip and the bilateral P1 segments of the posterior cerebral arteries (PCA). The patient was ineligible for intravenous thrombolysis. Endovascular treatment was performed with partial recanalization of the basilar artery thrombolysis in cerebral ischemia (TICI) 2a. The diameter and light reactivity of patients' pupils are important parts of the neurological exam. A dilated pupil is an ominous sign associated with a severe prognosis and even worse if both pupils are dilated. Bilateral fixed dilated pupils could be present in basilar artery occlusion (BAO), i.e., basilar tip occlusion. This is explained by ischemia in the mesencephalon, where the nucleus of the oculomotor nerve lies. This ischemic stroke has the highest mortality rate, greater than 85%. The only proven treatment for BAO patients is recanalization with intravenous r-tPA (recombinant tissue plasminogen activator), intra-arterial r-tPA, or endovascular treatment. With adequate treatment, a good outcome can be obtained in up to 35%, and the mortality can be dropped to 40%. Patients with posterior circulation stroke, especially BAO, are still one of the hardest to diagnose on time. They require timely and coordinated efforts by an interdisciplinary team of neurologists, neuroradiologists and neurosurgeons. Timely recanalization within 12 hours and potentially up to 24 hours is the goal. This could lead to a favorable outcome. Loss of consciousness and bilateral fixed dilated pupils could be present in patients with BAO and shouldn't be accepted as a sign of a definite bad outcome. This definitely should not discourage treating physicians. All efforts should be focused on finding the right diagnosis in a timely manner. The differential diagnosis is crucial and may be the difference between life and death, especially in the context of BAO.

12.
Comput Methods Programs Biomed ; 257: 108451, 2024 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-39395303

RESUMEN

BACKGROUND AND OBJECTIVE: Fetal brain tissue segmentation provides foundational support for comprehensively understanding the neurodevelopment of normal and congenital disease-affected fetuses. Manual labeling is very time-consuming, and automated segmentation methods can greatly improve the efficiency of doctors. At the same time, fetal brain tissue undergoes various changes throughout the pregnancy, leading to a continuous change in tissue contrast, which greatly increases the difficulty of training segmentation methods. This study aims to develop an automated segmentation model that can efficiently and accurately segment fetal brain tissue, improving the workflow for medical professionals. METHODS: We propose a novel deep learning-based segmentation model that incorporates three innovative components: Firstly, a new Dual Dilated Attention Block (DDAB) is proposed in the encoder part to enhance the feature extraction of local spatial and structural contextual information. Secondly, a Multi-scale Deformable Transformer (MSDT) is integrated into the bottleneck to improve the feature extraction of global information on local spatial and structural contextual information. Thirdly, we use a novel block based on Graph Convolution Attention (GCAB) in the decoder, which effectively enhances the features at the decoder.The code is available at https://github.com/unicoco7/MG-Net/. RESULTS: We trained and tested on the FeTA 2021 and FeTA 2022 datasets, and evaluated using seven popular metrics, including Dice, IoU, MAE, BoundaryF, PRE, SEN, and SPE. Compared to the current state-of-the-art 3D segmentation models such as nnFormer, SwinUNETR, and 3DUX-net, our proposed method has surpassed all of them in metrics like Dice, IoU, and MAE. Specifically, on the FeTA 2021 dataset, our model achieved a Dice of 0.8666, an IoU of 0.7646, and an MAE of 0.0027; on the FeTA 2022 dataset, it achieved a Dice of 0.8552, an IoU of 0.7470, and an MAE of 0.0005. CONCLUSION: In this paper, we propose a model for three-dimensional fetal brain tissue segmentation based on multi-scale feature fusion and graph convolution attention mechanism, and conduct experimental evaluation on the FeTA 2021 and FeTA 2022 datasets. Understanding the boundaries of fetal brain tissue is crucial for doctors' diagnosis, so the proposed model is expected to improve the speed and accuracy of doctors' diagnoses.

13.
Int J Biol Macromol ; : 136353, 2024 Oct 10.
Artículo en Inglés | MEDLINE | ID: mdl-39395510

RESUMEN

Dilated cardiomyopathy (DCM) is a leading cause of heart failure, characterized by ventricular dilation, thinning of the ventricular walls, and systolic dysfunction in either the left or both ventricles, often accompanied by fibrosis. Human cardiac tissue is composed of various cell types, including cardiomyocytes (CMs), fibroblasts (FBs), endothelial cells (ECs), macrophages, lymphocytes and so on. In DCM patients, these cells frequently undergo functional and phenotypic changes, contributing to contractile dysfunction, inflammation, fibrosis, and cell death, thereby increasing the risk of heart failure. This study focuses on DCM patients with mutations (LMNA, RBM20, and TTN) and analyzes functional changes in subpopulations of four cardiac cell types. The study involves functional annotation of subpopulations within each cell type and explores the association between gene mutations and specific functions and pathways. Additionally, the SCENIC method is employed of a particular cell subpopulation with significant functional importance, aiming to identify key transcriptional regulators in specific cell states. By analyzing the expression levels of ligand-receptor pairs in vCM4, vFB2, EC5.0, T cells, and NK cells across the DCM mutant genotypes, we predicted their signaling pathways and communications. This research provides insights into the molecular mechanisms of DCM and potential therapeutic targets.

14.
Front Cardiovasc Med ; 11: 1450246, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39390987

RESUMEN

Dilated cardiomyopathy (DCM) remains an enigmatic myocardial disorder characterized either by enlargement of either the left or right ventricle or both and reduced contractility, posing a significant burden on pediatric populations as a leading cause of cardiac-related mortality and morbidity. This paper presents a compelling case of DCM in a Han Chinese child whose genomic analysis unveiled a novel LMNA-C.185G>C (p.Arg62Pro) variant. Over a meticulous 3-year clinical follow-up, spanning ten outpatient consultations and hospital admissions since the initial diagnosis, the patient exhibited a progressive emergence of various cardiac conduction anomalies closely mirroring LMNA-associated phenotypes. Delving into a comprehensive review of the patient's 14-year medical journey and familial history, antecedent signs of muscular dystrophy (MD) predated DCM onset. Familial scrutiny revealed a lineage marred by muscular atrophy, with the patient's maternal grandmother having a history of muscular dystrophy and an episode of DCM, necessitating cardiac transplantation in the patient's uncle at age 37. This scenario illuminates the intricate interplay between LMNA-associated diseases and genetic predisposition. Timely identification of etiological triggers stands paramount in DCM management. Beyond conventional genetic scrutiny, leveraging novel serum biomarkers such as anti-heart muscle antibodies (AHA) remarkably enhanced diagnostic precision. Notably, personalized therapeutic interventions comprising prednisolone regimens and intravenous immunoglobulin infusions precipitated marked amelioration in heart failure symptoms and serum biomarker profiles. It is noteworthy to identify this novel genetic locus within the Han Chinese populace, underscoring the imperative of expanding the LMNA mutation repository within this demographic cohort. Early recognition of clinical manifestations and etiological cues in pediatric DCM heralds a paradigm shift in risk prognostication and individualized therapeutic interventions, underscoring the profound significance of precision medicine in combating rare familial cardiomyopathies.

15.
J Pak Med Assoc ; 74(10): 1894-1896, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39407393

RESUMEN

Cardiovascular mortality is a major health burden worldwide and the number of patients with cardiac diseases is increasing. Dilated cardiomyopathy (DCM) is the most frequent cause for patient visits in cardiac care units and emergency departments. It is commonly misdiagnosed as ischaemic cardiac disease. Middle- and low-income countries rely on pharmacological management as the only treatment option. Most of the patients cannot afford heart transplants or advanced treatment strategies. Most health professionals also do not prescribe cardiac rehabilitation for DCM patients in their routine clinical practice. There is evidence that supervised cardiac rehabilitation is safe and beneficial for DCM patients. In addition to medications, cardiopulmonary exercise testing (CPET) and supervised cardiac rehabilitation, can provide more benefits to the affected population of cardiomyopathies. CPET and cardiac rehabilitation are still novel concepts in countries like Pakistan. The present review aims to provide clinicians with an overview of an evidence-based and innovative perspective. This perspective emphasizes the utilization of the additional benefits of cardiac rehabilitation in the holistic management of DCM patients and the prevention of chronic heart failure.


Asunto(s)
Rehabilitación Cardiaca , Cardiomiopatía Dilatada , Prueba de Esfuerzo , Humanos , Cardiomiopatía Dilatada/rehabilitación , Cardiomiopatía Dilatada/fisiopatología , Prueba de Esfuerzo/métodos , Rehabilitación Cardiaca/métodos , Terapia por Ejercicio/métodos , Insuficiencia Cardíaca/rehabilitación , Insuficiencia Cardíaca/fisiopatología
16.
Life Sci ; : 123126, 2024 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-39396640

RESUMEN

Dilated cardiomyopathy is a complex and debilitating heart disorder characterized by the enlargement and weakening of the cardiac chambers, leading to impaired contractility and heart failure. Nesprins, a family of nuclear envelope spectrin repeat proteins that include isoforms Nesprin-1/-2, are integral components of the LInker of Nucleoskeleton and Cytoskeleton complex. They facilitate the connection between the nuclear envelope and the cytoskeleton, crucial for maintaining nuclear architecture, migration and positioning, and mechanical transduction and signaling. Nesprin-1/-2 are abundantly expressed in cardiac and skeletal muscles.They have emerged as key players in the pathogenesis of dilated cardiomyopathy. Mutations in synaptic nuclear envelope-1/-2 genes encoding Nesprin-1/-2 are associated with dilated cardiomyopathy, underscoring their significance in cardiac health. This review highlights the all known cases of Nesprin-1/-2 related dilated cardiomyopathy, focusing on their interactions with the nuclear envelope, their role in mechanical transduction, and their influence on gene expression. Moreover, it delves into the underlying mechanisms through which Nesprin dysfunction disrupts nuclear-cytoskeletal coupling, leading to abnormal nuclear morphology, impaired mechanotransduction, and altered gene regulation. The exploration of Nesprin's impact on dilated cardiomyopathy offers a promising avenue for therapeutic interventions aimed at ameliorating the disease. This review provides a comprehensive overview of recent advancements in understanding the pivotal role of Nesprins in dilated cardiomyopathy research.

17.
Quant Finance ; 24(8): 1105-1127, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39410924

RESUMEN

Volatility forecasts play a central role among equity risk measures. Besides traditional statistical models, modern forecasting techniques based on machine learning can be employed when treating volatility as a univariate, daily time-series. Moreover, econometric studies have shown that increasing the number of daily observations with high-frequency intraday data helps to improve volatility predictions. In this work, we propose DeepVol, a model based on Dilated Causal Convolutions that uses high-frequency data to forecast day-ahead volatility. Our empirical findings demonstrate that dilated convolutional filters are highly effective at extracting relevant information from intraday financial time-series, proving that this architecture can effectively leverage predictive information present in high-frequency data that would otherwise be lost if realised measures were precomputed. Simultaneously, dilated convolutional filters trained with intraday high-frequency data help us avoid the limitations of models that use daily data, such as model misspecification or manually designed handcrafted features, whose devise involves optimising the trade-off between accuracy and computational efficiency and makes models prone to lack of adaptation into changing circumstances. In our analysis, we use two years of intraday data from NASDAQ-100 to evaluate the performance of DeepVol. Our empirical results suggest that the proposed deep learning-based approach effectively learns global features from high-frequency data, resulting in more accurate predictions compared to traditional methodologies and producing more accurate risk measures.

18.
Front Cardiovasc Med ; 11: 1422151, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39411178

RESUMEN

A case of a 44-year-old man presenting with a family history of LMNA mutation and cardiac symptoms (dizziness, weakness, palpitations, and shortness of breath) congruent with dilated cardiomyopathy. Genetic testing revealed a novel likely pathogenic mutation of the LMNA gene (c.513G>A, exon 2) not previously associated with dilated cardiomyopathy, and the patient underwent guideline direct treatment for dilated cardiomyopathy. In patients with LMNA mutations, VTA risk should be calculated to determine the need for prophylactic ICD placement.

19.
Front Genet ; 15: 1438887, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39411373

RESUMEN

Dilated cardiomyopathy (DCM) is a heart condition that causes enlarged and weakened left ventricles and affects the heart's ability to pump blood effectively. Most genetic etiology still needs to be understood. Previously, we have used the known germline hereditary fusion genes (HFGs) to identify HFGs associated with multiple myeloma and leukemia. In this study, we have developed a statistical model to study fusion transcripts discovered from the left ventricles of 122 DCM patients and 252 GTEx (Genotype Tissue Expression) healthy controls to discover novel HFGs, ranging from 4% to 87.7%, and EFGs, ranging from 4% to 99.2%, associated with DCM. This discovery of numerous novel HFGs and EFGs associated with DCM provides first-hand evidence that DCM results from interactive developmental consequences between germline genetic and environmental abnormalities and paves the way for future research and diagnostic and therapeutic applications, instilling hope for the future of DCM treatment.

20.
Physiol Rep ; 12(20): e70061, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39411804

RESUMEN

Correlation between echocardiographic and pathoanatomic variables and their prognostic value in murine cardiomyopathy models remain unknown. Using echocardiography, morphometrics, and survival monitoring, we characterized transgenic (TG) mice with dilated cardiomyopathy due to cardiac overexpression of ß2-adrenoceptors focusing on predicting heart failure (HF) risk and HF mortality. In 12-month-old non-TG and TG mice, echocardiography was performed to determine left ventricular (LV) dimensions (d), wall thickness (h), and fractional shortening (FS). Animals were monitored for 3 months for survival. Organ weights and pathological events indicating left HF were determined. TG mice (n = 76) had reduced FS and enlarged LV, and 79% died of HF or likely arrhythmias during the follow-up period while all non-TG mice (n = 26) survived. These mice with left HF also had pulmonary congestion and hypertrophy/dilatation of the right ventricle (RV). Weights of lungs, RV, and atria were intercorrelated (r = 0.79-0.83) and also negatively correlated with FS × (h/d) index (r = -0.502 to -0.609). By FS × (h/d) tertiles, TG mice of low tertiles were identified with the highest mortality (96%) largely due to HF (76%). In conclusion, in aged cardiomyopathy mice a good correlation existed between echocardiographic and pathoanatomic variables. Echocardiography-derived LV function and remodeling were useful in identifying a subgroup of TG mice with a high risk of HF and HF fatality.


Asunto(s)
Ecocardiografía , Insuficiencia Cardíaca , Ratones Transgénicos , Animales , Insuficiencia Cardíaca/diagnóstico por imagen , Insuficiencia Cardíaca/patología , Masculino , Ratones , Ecocardiografía/métodos , Cardiomiopatía Dilatada/diagnóstico por imagen , Cardiomiopatía Dilatada/patología , Envejecimiento/patología , Modelos Animales de Enfermedad , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/patología , Ventrículos Cardíacos/fisiopatología
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