Cardiogenetics最新文献_第7页

Evaluation of the Correlation between the rs4918 Polymorphism of AHSG Gene and Coronary Artery Calcification in Patients with Coronary Artery Disease 评价AHSG基因rs4918多态性与冠心病患者冠状动脉钙化的相关性

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Cardiogenetics Pub Date : 2020-11-06 DOI: 10.3390/cardiogenetics10020007

Z. Ahmadihosseini, Morteza Moeinian, S. Nazemi, S. Elyasi, A. Mohammadpour

{"title":"Evaluation of the Correlation between the rs4918 Polymorphism of AHSG Gene and Coronary Artery Calcification in Patients with Coronary Artery Disease","authors":"Z. Ahmadihosseini, Morteza Moeinian, S. Nazemi, S. Elyasi, A. Mohammadpour","doi":"10.3390/cardiogenetics10020007","DOIUrl":"https://doi.org/10.3390/cardiogenetics10020007","url":null,"abstract":"Objectives: Fetuin-A is a circulating calcification inhibitor that prevents coronary artery calcification (CAC) by increasing calcium phosphate solubility and inhibiting VSMC differentiation and apoptosis. In this study, we investigated the correlation between rs4918 and CAC in patients with coronary artery disease (CAD). Methods: Forty-two healthy individuals and eighty-one CAD patients were recruited in the present study. The CAC score (CACS) was measured by CT angiography and the genotype analysis of rs4918 single-nucleotide polymorphism SNP was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: The CACS was significantly higher in CAD patients compared to healthy individuals (p < 0.001); however, there was no significant difference between the mean CACS in the presence and absence of rs4918 (p = 0.792). The mean calcium score of the left main coronary artery (LMCA) was significantly lower in carriers of the rs4918 allele (p = 0.036). The frequency of rs4918 SNP was almost similar in the control group and CAD patients (p = 0.846). Conclusions: in patients with CAD, we found no significant association between rs4918 SNP and CACS, indicating that carriers of this allele are not at increased risk of developing cardiovascular diseases compared with those without.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2020-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3390/cardiogenetics10020007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48635571","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

Anomalous Left Coronary Artery from the Pulmonary Artery: The Role of Multimodal Imaging—A Case Report 肺动脉异常左冠状动脉:多模态成像的作用- 1例报告

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Cardiogenetics Pub Date : 2020-11-04 DOI: 10.3390/cardiogenetics10020006

M. Singh, A. Gomes, Moad El-Haddad, A. Saidmeerasah, R. Iqbal

引用次数: 0

Sudden cardiac death in young athletes: Literature review of molecular basis 年轻运动员的心源性猝死:分子基础的文献综述

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Cardiogenetics Pub Date : 2020-04-07 DOI: 10.4081/cardiogenetics.2020.8860

C. Mazzaccara, Bruno Mirra, Ferdinando Barretta, B. Lombardo, O. Scudiero, G. Frisso

{"title":"Sudden cardiac death in young athletes: Literature review of molecular basis","authors":"C. Mazzaccara, Bruno Mirra, Ferdinando Barretta, B. Lombardo, O. Scudiero, G. Frisso","doi":"10.4081/cardiogenetics.2020.8860","DOIUrl":"https://doi.org/10.4081/cardiogenetics.2020.8860","url":null,"abstract":"Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue among medical personnel, sports communities and laypersons alike, and generates significant media attention. The most frequent cause of SCD is a hidden inherited cardiomyopathy, the athletes may not even be aware of. Predictive medicine, by searching the presence of pathogenic alterations in cardiac genes, may be an integrative tool, besides the conventional ones used in cardiology (mainly electro and echocardiogram), to reach a definitive diagnosis in athletes showing signs/symptoms, even borderline, of inherited cardiomyopathy/ channelopathy, and in athletes presenting family history of SCD and/or of hereditary cardiac disease. In this review, we revised the molecular basis of the major cardiac diseases associated to sudden cardiac death and the clinical molecular biology approach that can be used to perform risk assessment at DNA level of sudden cardiac death, contributing to the early implementation of adequate therapy. Alterations can occur in ion channel genes, in genes encoding desmosomal and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton and the nuclear envelope. The advent of next generation sequencing (NGS) technology has provided the means to search for mutations in all these genes, at the same time. Therefore, this molecular approach should be the preferred methodology for the aforementioned purpose.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2020-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/cardiogenetics.2020.8860","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42968584","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: 3

Non-ischemic scar underlines ventricular arrhythmias in Kearns-Sayre Syndrome. Kearns-Sayre综合征的非缺血性瘢痕突出了室性心律失常。

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Cardiogenetics Pub Date : 2019-07-12 DOI: 10.4081/CARDIOGENETICS.2019.8194

S. Figliozzi, A. Zorzi, M. P. Marra, A. Ruocco, S. Iliceto, D. Corrado, C. Calore

{"title":"Non-ischemic scar underlines ventricular arrhythmias in Kearns-Sayre Syndrome.","authors":"S. Figliozzi, A. Zorzi, M. P. Marra, A. Ruocco, S. Iliceto, D. Corrado, C. Calore","doi":"10.4081/CARDIOGENETICS.2019.8194","DOIUrl":"https://doi.org/10.4081/CARDIOGENETICS.2019.8194","url":null,"abstract":"Kearns-Sayre Syndrome (KSS) is a rare, mitochondrial disease in which cardiac involvement has been associated with poor prognosis. Although the most common clinical manifestation is progressive conduction system impairment, patients can suffer from ventricular arrhythmias. Yet, they show a high prevalence of sudden cardiac death, whose etiopathological mechanism is not completely understood. Cardiac magnetic resonance (CMR) is a rising tool to detect subclinical heart involvement in many heart diseases and was recently able to detect non-ischemic scar in patients affected by KSS. \u0000 \u0000We present a case of a 44 years old patient affected by KSS with a long-standing history of ventricular arrhythmias. Despite electrocardiogram and echocardiogram were normal, CMR showed non-ischemic myocardial scar in the basal-mid lateral wall. Ventricular ectopic beats were assumed to origin from this site, according to their morphology. \u0000Our case highlights non-ischemic myocardial scar as a possible etiopathological mechanism of ventricular arrhythmias in patients with KSS. The added value of CMR to provide cardiac involvement identification and risk stratification of these patients is also shown.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":" ","pages":""},"PeriodicalIF":0.6,"publicationDate":"2019-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/CARDIOGENETICS.2019.8194","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44113456","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

An Unusual Cause of Right Heart Failure 右心衰的不寻常原因

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Cardiogenetics Pub Date : 2019-06-14 DOI: 10.4081/CARDIOGENETICS.2019.7503

P. Hill

引用次数: 0

Risk Stratification in Hypertrophic Cardiomyopathy: Time to Think about the Electrocardiogram 肥厚型心肌病的风险分层：是时候考虑心电图了

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Cardiogenetics Pub Date : 2019-04-24 DOI: 10.4081/CARDIOGENETICS.2019.7951

J. Skinner

引用次数: 2

Response to Skinner: Risk Stratification in Hypertrophic Cardiomyopathy: Time to Think about the Electrocardiogram 对斯金纳的回应:肥厚性心肌病的风险分层:是时候考虑心电图了

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Cardiogenetics Pub Date : 2019-04-24 DOI: 10.4081/CARDIOGENETICS.2019.8048

J. Kaski

引用次数: 0

Atrial Myxoma and Williams-Beuren Syndrome. An Incidental Association? 心房粘液瘤和Williams-Beuren综合征。一个偶然的协会？

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Cardiogenetics Pub Date : 2019-04-17 DOI: 10.4081/CARDIOGENETICS.2019.7779

G. Limongelli, F. Fratta, A. Cirillo, A. Fusco, Tommaso Marrazzo, Stefania Tramonte, M. Caiazza, G. Caianiello, M. Russo

引用次数: 0

FLNC missense variants in familial noncompaction cardiomyopathy 家族性非压实性心肌病的FLNC错义变异

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Cardiogenetics Pub Date : 2019-01-01 DOI: 10.4081/cardiogenetics.2019.8181

J. Waning, Y. Hoedemaekers, W. T. Rijdt, Arne I. Jpma, D. Heijsman, K. Caliskan, E. Hoendermis, T. Willems, A. Wijngaard, A. Suurmeijer, M. V. Slegtenhorst, J. Jongbloed, D. Majoor-Krakauer, P. A. Zwaag

引用次数: 2

Reverse Takotsubo syndrome, a case report of a rare cause for postpartum heart failure 反向Takotsubo综合征，一个罕见的产后心力衰竭的病例报告

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Cardiogenetics Pub Date : 2018-10-02 DOI: 10.4081/cardiogenetics.2018.7671

Leo Kilian, P. Haaf, O. Pfister, A. Vischer, O. Lapaire, T. Burkard

{"title":"Reverse Takotsubo syndrome, a case report of a rare cause for postpartum heart failure","authors":"Leo Kilian, P. Haaf, O. Pfister, A. Vischer, O. Lapaire, T. Burkard","doi":"10.4081/cardiogenetics.2018.7671","DOIUrl":"https://doi.org/10.4081/cardiogenetics.2018.7671","url":null,"abstract":"Predominant causes for newly diagnosed postpartum heart failure are preeclampsia and peripartum cardiomyopathy. Being an anatomical variant of Takotsubo syndrome (TTS) reverse TTS in this period is rare. We present a 36 year old patient, who had delivered triplets by cesarean section. Because of postpartum bleeding she was administered sulprostone. Later she was transferred to the Intensive Care Unit with sudden development of dyspnea, tachypnea and tachycardia. Clinical symptoms, laboratory findings and chest radiograph showed signs of acute heart failure. Transthoracic echocardiography (TTE) revealed reverse TTS with moderately reduced left ventricular ejection fraction (LVEF 39%). The patient stabilized with loop diuretic, angiotensine-converting enzyme inhibitors and beta-blockade. Breast-feeding was discouraged and bromocriptine administered. Left ventricular function normalized (LVEF 60%) within four weeks. TTS should be considered in patients with early postpartum development of heart failure. Rapid cardiac recompensation after the start of adequate therapy and complete resolution of clinical symptoms and TTE findings are typical for postpartum TTS.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":"1 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2018-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/cardiogenetics.2018.7671","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42813883","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: 4