Cardiogenetics最新文献_第3页

Recurrent Episodes of Acute Myocardial Infarction Secondary to Paradoxical Coronary Artery Embolism 异位冠状动脉栓塞继发急性心肌梗死的反复发作

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Cardiogenetics Pub Date : 2022-08-03 DOI: 10.3390/cardiogenetics12030023

M. Singh, A. Gomes, P. Hill, A. Saha

引用次数: 1

Association of GSTT1, GSTM1 and GSTP1 (Ile105Val) mRNA Expression with Cardiometabolic Risk Parameters in Women with Breast Cancer and Comorbidities GSTT1、GSTM1和GSTP1 (Ile105Val) mRNA表达与乳腺癌及合并症女性心脏代谢风险参数的关系

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Cardiogenetics Pub Date : 2022-07-20 DOI: 10.3390/cardiogenetics12030022

Yizel Becerril Alarcón, Fernando Bastida González, Isidro Roberto Camacho Beiza, Eduardo Dávila González, José Alfonso Cruz Ramos, A. B. Benitez Arciniega, R. Valdés Ramos, Alexandra E Soto Pina

{"title":"Association of GSTT1, GSTM1 and GSTP1 (Ile105Val) mRNA Expression with Cardiometabolic Risk Parameters in Women with Breast Cancer and Comorbidities","authors":"Yizel Becerril Alarcón, Fernando Bastida González, Isidro Roberto Camacho Beiza, Eduardo Dávila González, José Alfonso Cruz Ramos, A. B. Benitez Arciniega, R. Valdés Ramos, Alexandra E Soto Pina","doi":"10.3390/cardiogenetics12030022","DOIUrl":"https://doi.org/10.3390/cardiogenetics12030022","url":null,"abstract":"Breast cancer (BC) and cardiometabolic diseases share a multifactorial and modifiable etiology, modulated by complex molecular pathways. Glutathione S-transferase (GST) plays a critical role, providing protection against xenobiotics and regulating levels of enzymes and proteins in the cell. GST variants have a significant impact on susceptibility to diseases whose pathogenesis involves oxidative stress, as is the case in many inflammatory diseases such as BC and cardiometabolic pathologies. However, the expression of these polymorphic variants has not been studied in BC. This study aimed to evaluate the presence of GST mRNA isoforms and their association with clinical and cardiometabolic parameters in women with BC. This was a case-control study, and a total of 57 participants were recruited. Concentrations of glucose and lipids in blood were measured in all the participants. GST variants (GSTT1, GSTM1 and GSTP1 Ile105Val polymorphism) were evaluated in all the participants by real-time PCR analysis. There was a significant association (p < 0.05) between the frequency of GSTP1 and LDL-c in the BC group. However, the control group showed significant associations between blood pressure with GSTT1 and GSTP1 variants with total cholesterol (TC), LDL-c, VLDL-c and triacylglycerols (TG). Therefore, GSTT1 and GSTP1 variants could be emerging biomarkers to discriminate between BC cases related or not to cardiometabolic disease factors.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42548327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Studying Epigenetics of Cardiovascular Diseases on Chip Guide 心血管疾病表观遗传学芯片研究指南

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Cardiogenetics Pub Date : 2022-07-07 DOI: 10.3390/cardiogenetics12030021

B. Alghamdi, Intisar Mahmoud Aljohani, Bandar Ghazi Alotaibi, Muhammad Ahmed, K. Almazmomi, Salman Aloufi, J. Alshamrani

{"title":"Studying Epigenetics of Cardiovascular Diseases on Chip Guide","authors":"B. Alghamdi, Intisar Mahmoud Aljohani, Bandar Ghazi Alotaibi, Muhammad Ahmed, K. Almazmomi, Salman Aloufi, J. Alshamrani","doi":"10.3390/cardiogenetics12030021","DOIUrl":"https://doi.org/10.3390/cardiogenetics12030021","url":null,"abstract":"Epigenetics is defined as the study of inheritable changes in the gene expressions and phenotypes that occurs without altering the normal DNA sequence. These changes are mainly due to an alteration in chromatin or its packaging, which changes the DNA accessibility. DNA methylation, histone modification, and noncoding or microRNAs can best explain the mechanism of epigenetics. There are various DNA methylated enzymes, histone-modifying enzymes, and microRNAs involved in the cause of various CVDs (cardiovascular diseases) such as cardiac hypertrophy, heart failure, and hypertension. Moreover, various CVD risk factors such as diabetes mellitus, hypoxia, aging, dyslipidemia, and their epigenetics are also discussed together with CVDs such as CHD (coronary heart disease) and PAH (pulmonary arterial hypertension). Furthermore, different techniques involved in epigenetic chromatin mapping are explained. Among these techniques, the ChIP-on-chip guide is explained with regard to its role in cardiac hypertrophy, a final form of heart failure. This review focuses on different epigenetic factors that are involved in causing cardiovascular diseases.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49193091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy 临床外显子组测序揭示一例儿童限制性心肌病的De Novo FLNC突变

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Cardiogenetics Pub Date : 2022-06-10 DOI: 10.3390/cardiogenetics12020019

F. Girolami, S. Passantino, Adelaide Ballerini, A. Gozzini, Giulio Porcedda, I. Olivotto, S. Favilli

引用次数: 0

Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort 西班牙心脏移植队列中与心脏病相关的大量基因的遗传筛选

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Cardiogenetics Pub Date : 2022-05-09 DOI: 10.3390/cardiogenetics12020018

E. Cuesta-Llavona, R. Lorca, B. Díaz-Molina, J. Lambert-Rodríguez, J. Reguero, S. Iglesias, B. Alonso, Alejandro Junco-Vicente, V. Alonso, E. Coto, Juan Gómez

{"title":"Genetic Screening of a Large Panel of Genes Associated with Cardiac Disease in a Spanish Heart Transplanted Cohort","authors":"E. Cuesta-Llavona, R. Lorca, B. Díaz-Molina, J. Lambert-Rodríguez, J. Reguero, S. Iglesias, B. Alonso, Alejandro Junco-Vicente, V. Alonso, E. Coto, Juan Gómez","doi":"10.3390/cardiogenetics12020018","DOIUrl":"https://doi.org/10.3390/cardiogenetics12020018","url":null,"abstract":"In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring a heart transplantation. We identified a total of 48 candidate variants in 47 patients. Forty-three patients (90%) presented a single variant, and fourpatients (10%) were carriers of two variants. After refining the classification, we identified a pathogenic or likely pathogenic variant in 13 patients (10% of our cohort). In 34 additional cases (25%) the variants were classified as of unknown significance (VUS). In reference to the cause of cardiac failure in the 13 carriers of pathogenic variants, 5 were of dilated non-ischemic cause, 4 hypertrophic and 1 restrictive cardiomyopathy. In the ischemic cases (n = 3) no family history of cardiac disease was recorded, while nineof the non-ischemic had other relatives who were also diagnosed. In conclusion, the NGS of a cardiac transplanted cohort identified a definite or very likely genetic cause in 10% of the cases. Most of them had a family history of cardiac disease, and were thus previously studied as part of a routine screening by a genetic counselor. Pathogenic variants in cases without a family history of cardiac disease were mainly of ischemic origin.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46930347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Modified Body Mass Index as a Novel Nutritional and Prognostic Marker in Patients with Cardiac Amyloidosis 改良体质量指数作为心脏淀粉样变性患者新的营养和预后指标

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Cardiogenetics Pub Date : 2022-04-13 DOI: 10.3390/cardiogenetics12020017

F. Dongiglio, G. Palmiero, E. Monda, M. Rubino, F. Verrillo, M. Caiazza, A. Cirillo, A. Fusco, E. Vetrano, M. Lioncino, Gaetano Diana, F. Di Fraia, G. Cerciello, F. Manganelli, O. Vriz, G. Limongelli

{"title":"Modified Body Mass Index as a Novel Nutritional and Prognostic Marker in Patients with Cardiac Amyloidosis","authors":"F. Dongiglio, G. Palmiero, E. Monda, M. Rubino, F. Verrillo, M. Caiazza, A. Cirillo, A. Fusco, E. Vetrano, M. Lioncino, Gaetano Diana, F. Di Fraia, G. Cerciello, F. Manganelli, O. Vriz, G. Limongelli","doi":"10.3390/cardiogenetics12020017","DOIUrl":"https://doi.org/10.3390/cardiogenetics12020017","url":null,"abstract":"The nutritional assessment is gaining clinical relevance since cardiac cachexia and malnutrition are emerging as novel markers of functional status and prognosis in many cardiovascular disorders, including cardiac amyloidosis (CA). This study aimed to evaluate the prognostic role of different nutritional indices for cardiovascular mortality in patients with CA and subgroups. Fifty CA patients (26 AL and 24 ATTR wild-type) were retrospectively analyzed. All patients underwent a comprehensive clinical and laboratory evaluation. Conventional body mass index (cBMI), modified BMI (mBMI), new BMI (nBMI) and prognostic nutritional index (PNI) were analyzed. Multivariate regression analysis was performed to identify the association between nutritional and other clinical-laboratory parameters with cardiovascular death. Compared to ATTRwt patients, those with AL showed lower mBMI values. No significant difference was observed for the other nutritional indices. During a median follow-up of 11.2 months, a lower mBMI quartile was associated with worse survival, in both groups. In multivariate analysis, mBMI emerged as an independent predictor for cardiovascular death. This study showed that mBMI is a novel index of malnutrition and an independent risk factor for cardiovascular mortality in patients with CA in both AL and ATTRwt form.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42182983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Left Ventricular Non-Compaction Spectrum in Adults and Children: From a Morphological Trait to a Structural Muscular Disease 成人和儿童左心室非致密频谱：从形态学特征到结构性肌肉疾病

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Cardiogenetics Pub Date : 2022-04-01 DOI: 10.3390/cardiogenetics12020016

F. Fusco, N. Borrelli, R. Barracano, G. Ciriello, F. Verrillo, G. Scognamiglio, B. Sarubbi

引用次数: 2

Clinical Phenotypes of Cardiovascular and Heart Failure Diseases Can Be Reversed? The Holistic Principle of Systems Biology in Multifaceted Heart Diseases 心血管和心力衰竭疾病的临床表型可以逆转吗?系统生物学在多面心脏病中的整体原理

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Cardiogenetics Pub Date : 2022-04-01 DOI: 10.3390/cardiogenetics12020015

K. Lourida, G. Louridas

{"title":"Clinical Phenotypes of Cardiovascular and Heart Failure Diseases Can Be Reversed? The Holistic Principle of Systems Biology in Multifaceted Heart Diseases","authors":"K. Lourida, G. Louridas","doi":"10.3390/cardiogenetics12020015","DOIUrl":"https://doi.org/10.3390/cardiogenetics12020015","url":null,"abstract":"Recent advances in cardiology and biological sciences have improved quality of life in patients with complex cardiovascular diseases (CVDs) or heart failure (HF). Regardless of medical progress, complex cardiac diseases continue to have a prolonged clinical course with high morbidity and mortality. Interventional coronary techniques together with drug therapy improve quality and future prospects of life, but do not reverse the course of the atherosclerotic process that remains relentlessly progressive. The probability of CVDs and HF phenotypes to reverse can be supported by the advances made on the medical holistic principle of systems biology (SB) and on artificial intelligence (AI). Studies on clinical phenotypes reversal should be based on the research performed in large populations of patients following gathering and analyzing large amounts of relative data that embrace the concept of complexity. To decipher the complexity conundrum, a multiomics approach is needed with network analysis of the biological data. Only by understanding the complexity of chronic heart diseases and explaining the interrelationship between different interconnected biological networks can the probability for clinical phenotypes reversal be increased.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42023810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pancarditis as the Clinical Presentation of Eosinophilic Granulomatosis with Polyangiitis: A Multimodality Approach to Diagnosis Pancarditis作为嗜酸性粒细胞增多症伴多血管炎的临床表现：一种多模式诊断方法

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Cardiogenetics Pub Date : 2022-03-28 DOI: 10.3390/cardiogenetics12020014

M. Lioncino, E. Monda, S. Dellegrottaglie, A. Cirillo, M. Caiazza, A. Fusco, F. Esposito, F. Verrillo, G. Ciccarelli, M. Rubino, M. Triggiani, R. Scarpa, A. Caforio, R. Marcolongo, S. Rizzo, C. Basso, G. Nigro, M. Russo, P. Golino, G. Limongelli

{"title":"Pancarditis as the Clinical Presentation of Eosinophilic Granulomatosis with Polyangiitis: A Multimodality Approach to Diagnosis","authors":"M. Lioncino, E. Monda, S. Dellegrottaglie, A. Cirillo, M. Caiazza, A. Fusco, F. Esposito, F. Verrillo, G. Ciccarelli, M. Rubino, M. Triggiani, R. Scarpa, A. Caforio, R. Marcolongo, S. Rizzo, C. Basso, G. Nigro, M. Russo, P. Golino, G. Limongelli","doi":"10.3390/cardiogenetics12020014","DOIUrl":"https://doi.org/10.3390/cardiogenetics12020014","url":null,"abstract":"Eosinophilic pancarditis (EP) is a rare, often unrecognized condition caused by endomyocardial infiltration of eosinophil granulocytes (referred as eosinophilic myocarditis, EM) associated with pericardial involvement. EM has a variable clinical presentation, ranging from asymptomatic cases to acute cardiogenic shock requiring mechanical circulatory support (MCS) or chronic restrictive cardiomyopathy at high risk of progression to dilated cardiomyopathy (DCM). EP is associated with high in-hospital mortality, particularly when associated to endomyocardial thrombosis, coronary arteries vasculitis or severe left ventricular systolic dysfunction. To date, there is a lack of consensus about the optimal diagnostic algorithm and clinical management of patients with biopsy-proven EP. The differential diagnosis includes hypersensitivity myocarditis, eosinophil granulomatosis with polyangiitis (EGPA), hypereosinophilic syndrome, parasitic infections, pregnancy-related hypereosinophilia, malignancies, drug overdose (particularly clozapine) and Omenn syndrome (OMIM 603554). To our knowledge, we report the first case of pancarditis associated to eosinophilic granulomatosis with polyangiitis (EGPA) with negative anti-neutrophil cytoplasmic antibodies (ANCA). Treatment with steroids and azathioprine was promptly started. Six months later, the patient developed a relapse: treatment with subcutaneous mepolizumab was added on the top of standard therapy, with prompt disease activity remission. This case highlights the role of a multimodality approach for the diagnosis of cardiac involvement associated to systemic immune disorders.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45296724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients 芬兰患者队列中MYH7基因型-表型相关性

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Cardiogenetics Pub Date : 2022-03-16 DOI: 10.3390/cardiogenetics12010013

T. Vepsäläinen, T. Heliö, Catalina Vasilescu, L. Martelius, S. Weckström, J. Koskenvuo, A. Hiippala, T. Ojala

引用次数: 1