Global Cardiology Science & Practice最新文献

{"title":"Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia.","authors":"Emma Neves,&nbsp;Tina Khan,&nbsp;Maggie Williams,&nbsp;Marta Carrera,&nbsp;Winston Banya,&nbsp;Ramon Brugada,&nbsp;Carles Ferrer,&nbsp;Deborah J Morris-Rosendahl,&nbsp;Mahmoud Barbir","doi":"10.21542/gcsp.2021.31","DOIUrl":"https://doi.org/10.21542/gcsp.2021.31","url":null,"abstract":"<p><p><b>Introduction</b>: Familial hypercholesterolaemia (FH) is a common autosomal dominant genetic condition, characterised by elevated LDL cholesterol (LDL-C), leading to premature cardiovascular disease (CVD). Early and accurate diagnosis, with implementation of preventative therapies, has a major impact on reducing premature CVD, morbidity and mortality. Genetic testing is recommended to confirm clinical diagnosis in the proband and enable cascade testing in relatives. There is growing evidence that the risk of CVD conferred by hypercholesterolaemia depends not only on monogenic causes but also on polygenic factors. GENinCode has developed a novel genomic testing system (Lipid inCode^®) which we have assessed against an accredited National Health Service (NHS UK) genetic screening service in order to validate its diagnostic and clinical utility. <b>Methods</b>: DNA samples from 40 index cases who had been referred for FH testing in an ISO15189-accredited NHS genetic screening service, were retrospectively tested using the Lipid inCode^® assay. The results were compared with those from NHS testing. <b>Results</b>: There was absolute concordance in variant detection between both diagnostic tests for monogenic and polygenic FH, the only difference being in the interpretation and classification of DNA variants based on ACMG guidelines, which did not differ by more than one classification class.  The Lipid inCode^® test was equivalent to the NHS test in providing comprehensive genetic analysis that included the assessment of both monogenic (FH) and polygenic determinants of blood cholesterol and including a pharmacogenomic assessment of predisposition to statin-related myopathy. <b>Conclusion</b>: The Lipid inCode^® diagnostic test can be undertaken with rapid turnaround and gave the same results as those reported by standard NHS genetic laboratory testing. In addition to assessment of monogenic FH, the Lipid inCode^® assay provides additional genetic data, such as polygenic factors contributing to hypercholesterolaemia, a polygenic risk score (PRS) for coronary artery disease (CAD), pharmacogenomic testing for statin myopathy, and genetic predisposition to raised Lp(a).</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":"2021 4","pages":"e202131"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40389183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coronary allograft vasculopathy managed by Flash ostial balloon in a pediatric patient.","authors":"Viral K Desai,&nbsp;Mohammad Mathbout,&nbsp;Apurv Agarwal,&nbsp;Ibrahim Fahsah,&nbsp;Shahab Ghafaghazi","doi":"10.21542/gcsp.2021.27","DOIUrl":"https://doi.org/10.21542/gcsp.2021.27","url":null,"abstract":"<p><p>Coronary allograft vasculopathy (CAV) is the most significant cause of morbidity and mortality in heart transplant recipients. Inflammation and endothelial dysfunction caused by graft rejection and viral infections leads to a combination of circumferential intimal fibromuscular hyperplasia, atherosclerosis, and inflammation affecting all layers of the vessel wall. Though obstructive CAV is often asymptomatic, posing a diagnostic challenge in post-transplant patients, early diagnosis and treatment aid faster recovery and improved outcomes. The role of percutaneous coronary intervention in the treatment of CAV is unknown and not well studied in the pediatric population. We present a first-in-human case of ostial left main coronary artery disease managed with flaring of the ostial coronary stent using a Flash ostial balloon in a pediatric patient with history of an orthotopic heart transplant.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":"2021 4","pages":"e202127"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40389185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical management of an aneurysmal coronary cameral fistula to the right atrium.","authors":"Andrew M Acker,&nbsp;Michael E Ibrahim,&nbsp;Michael A Acker","doi":"10.21542/gcsp.2021.28","DOIUrl":"https://doi.org/10.21542/gcsp.2021.28","url":null,"abstract":"<p><p>Coronary artery aneurysm and coronary cameral fistula are both often incidentally discovered, and uncommon diagnoses. A coronary artery aneurysm is defined as being 1.5x the size of the adjacent normal coronary artery, while a coronary cameral fistula is a coronary artery that has an abnormal tract directly into a chamber of the heart. In this case report we describe the case of a 72-year-old female who was discovered to have an aneurysmal branch of her right coronary artery fistulized to her right atrium. The fistula had a serpiginous tract and in the midportion of the tract there was a giant aneurysm (3.4 × 3.3 × 3.0 cm) before emptying into the posterior aspect of the right atrium. The aneurysmal aberrant coronary artery was repaired by oversewing the afferent and efferent limbs from the inside. The aneurysm walls were then oversewn. This case demonstrates a unique pathology that was managed with surgical intervention where no standard therapy exists.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":"2021 4","pages":"e202128"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40389181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Starry Night by Van Gogh and morphogenesis of a tissue engineered heart valve.","authors":"Najma Latif,&nbsp;Yuan-Tsan Tseng,&nbsp;Magdi H Yacoub","doi":"10.21542/gcsp.2021.30","DOIUrl":"https://doi.org/10.21542/gcsp.2021.30","url":null,"abstract":"[No abstract]","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":"2021 4","pages":"e202130"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40389184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HbA1c and FIB-4 as serologic markers for the risk of progression of stage A heart failure.","authors":"William Grigg,&nbsp;Faisal Mahfooz,&nbsp;Dharmista Chaudhary,&nbsp;Isain Zapata,&nbsp;Douglas Duffee","doi":"10.21542/gcsp.2021.25","DOIUrl":"https://doi.org/10.21542/gcsp.2021.25","url":null,"abstract":"<p><p>The use of glycosylated hemoglobin as a diabetic glycemic control and cardiovascular risk marker is well documented. It has also been suggested as a marker for early diastolic hemodynamic changes leading to clinical heart failure, but is less well characterized. This study explored the association between elevated glycosylated hemoglobin and liver Fibrosis-4 values and worsening measures of diastolic cardiac function in order to assess their potential as early serologic markers in cardiovascular disease prevention. A retrospective cohort analysis was conducted in 102 patients presenting to the Parkview Medical Center health system who had received a full resting echo characterized by normal systolic ejection fraction and clinical risk factors associated with stage A heart failure in conjunction with glycosylated hemoglobin and Fibrosis-4 scores within a 3-month time window. Using regression analysis, measures of diastolic cardiac function were assessed in conjunction with rising glycosylated hemoglobin levels characterized as <6.5 and >6.5 and Fibrosis-4 scores after controlling for the presence of hypertension, coronary artery disease and valvular heart disease. Glycosylated hemoglobin levels >6.5 were significantly associated with a higher E/e' ratio and closely associated with an elevated left atrial volume index both indicative of elevated left atrial pressure as a sensitive marker for diastolic cardiac dysfunction. Fibrosis-4 scores did not appear to be clinically associated with progression of diastolic dysfunction. Thus, glycosylated hemoglobin may act as an early marker for identifying patients at increased risk for the progression of stage A heart failure. Fibrosis-4 scores do not appear to be related.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":"2021 4","pages":"e202125"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40389179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Value of troponin T as a screening test of cardiac structure and function in chronic kidney disease.","authors":"Fatma M Nasr,&nbsp;Amna Metwaly,&nbsp;Ashraf Abdel Khalik,&nbsp;Manar Raafat,&nbsp;Malak Nabil,&nbsp;Laila Kamel,&nbsp;Noha Elsheikh","doi":"10.21542/gcsp.2021.26","DOIUrl":"https://doi.org/10.21542/gcsp.2021.26","url":null,"abstract":"<p><strong>Background: </strong>Cardiovascular disease starts early in the course of chronic kidney disease (CKD) and is the leading cause of death in patients with end-stage renal disease. Since high-sensitivity cardiac troponin T (hs-cTnT) can detect much lower levels of myocardial injury than conventional assays, it may be useful for studying the earliest stages of heart disease in patients with CKD.</p><p><strong>Objective: </strong>To evaluate the association of circulating hs-cTnT with LV structural and functional abnormalities detected by echocardiography among dialysis dependent and non-dialysis dependent CKD patients.</p><p><strong>Methods: </strong>This study was conducted on 107 subjects divided into three groups. Group I consisted of CKD patients on conservative treatment (<i>n</i> = 42), Group II: hemodialysis patients (<i>n</i> = 42), Group III: control group: age and sex matched healthy volunteers (<i>n</i> = 23). All subjects were subjected to clinical examination, biochemical evaluation including estimation of hs-cTnT and Echo-Doppler study of cardiac structure and function.</p><p><strong>Results: </strong>There was a significant increase in LAV (<i>p</i> < 0.01), LVM (<i>p</i> < 0.01) in both patient groups compared to the control group. Mitral annular plane systolic excursion (MAPSE) was significantly decreased in both patient groups compared to the control group (<i>p</i> < 0.01, <i>p</i> < 0.05) and in group I compared to group II (<i>p</i> < 0.05) with a significant decrease in S velocity in group I compared to groups II and III (<i>p</i> < 0.01). There was a significant decrease in Vp (<i>p</i> < 0.01) with a significant increase in AEF (<i>p</i> < 0.01) in both patients' groups compared to the control group and AEF was significantly increased in group II compared to group I (<i>p</i> < 0.01). Ea velocity and Ea/Aa decreased significantly (<i>p</i> < 0.01) with significant increase in Aa velocity (<i>p</i> < 0.05, <i>p</i> < 0.01), E/Ea (<i>p</i> < 0.01) and E/Vp (<i>p</i> < 0.05) in both patient groups compared to the control group. There was a significant increase in hs-cTnT levels in both patient groups compared to the control group (<i>P</i> < 0.01). We found a positive correlation between hs-cTnT levels and LAV (<i>r</i> = 0.291, <i>p</i> < 0.03), IVST (<i>r</i> = 0.374, <i>p</i> < 0.004), PWT (<i>r</i> = 0.309, <i>p</i> < 0.02), LVM (<i>r</i> = 0.282, <i>p</i> < 0.03), A wave velocity (<i>r</i> = 0.271, <i>p</i> < 0.04), E/Ea (<i>r</i> = 0.506, <i>p</i> < 0.0001), PCWP (<i>r</i> = .507, <i>p</i> < 0.0001) and a negative correlation between hs-cTnT and MAPSE (<i>r</i> =  - 0.300, <i>p</i> < 0.02), S wave velocity (<i>r</i> =  - 0.259, <i>p</i> < 0.05), Ea (<i>r</i> =  - 626, <i>p</i> < 0.0001), Ea/Aa (<i>r</i> =  - 0.543, <i>p</i> < 0.0001). Troponin at the cut-off value of >5 ng/L, revealed 100% sensitivity and 95% specificity with areas under curve (AUC) of 0.998 and accuracy of 95.65% (<i>P</i> < 0.01) for discrimin","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":"2021 4","pages":"e202126"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40389182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myocarditis and pericarditis in association with COVID-19 mRNA-vaccination: cases from a regional pharmacovigilance centre.","authors":"Ioanna Istampoulouoglou,&nbsp;Georgios Dimitriou,&nbsp;Selina Späni,&nbsp;Andreas Christ,&nbsp;Barbara Zimmermanns,&nbsp;Sarah Koechlin,&nbsp;Oliver Stoeckmann,&nbsp;Clemens Winterhalder,&nbsp;David Marono,&nbsp;Valeriu Toma,&nbsp;Anne B Leuppi-Taegtmeyer","doi":"10.21542/gcsp.2021.18","DOIUrl":"https://doi.org/10.21542/gcsp.2021.18","url":null,"abstract":"<p><p>In this article we summarize suspected adverse events following immunization (AEFI) of pericarditis, myocarditis and perimyocarditis that were reported by our regional pharmacovigilance centre after COVID-19 mRNA-vaccination and discuss their association with these vaccines. Seventeen cases were reported between March and July 2021. Of these, nine had perimyocarditis, five myocarditis and three pericarditis. Twelve patients were male (71%). The median age was 38 years (range 17-88). The most commonly observed presenting symptom was acute chest pain (65%). While 47% of the patients were previously healthy, 53% had at least one pre-existing comorbidity, with hypertension being the most prevalent (24%). The European Society of Cardiology diagnostic criteria for the reported AEFIs were fulfilled in twelve cases (71%). The AEFIs occurred after the first vaccine dose in six cases (35%), after the second vaccine dose in ten cases (59%) and after both doses in one case (6%). The median latency of all AEFIs taken together was 14 days (range 1-28) after the first vaccination and 3 days (range 1-17) after the second one. All patients except one were hospitalized (94%) with a median length of stay of 7.5 days (range 3-13). The majority of patients (<i>n</i> = 11, 65%) did not experience any complications, and 13 (77%) of the patients had recovered or were recovering at the time of discharge. In 16 of the 17 cases (94%), the association between the AEFI and mRNA-vaccination was considered possible by the pharmacovigilance centre.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":" ","pages":"e202118"},"PeriodicalIF":0.0,"publicationDate":"2021-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8587334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39644637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CT-based fractional flow reserve: development and expanded application.","authors":"Ryo Torii,&nbsp;Magdi H Yacoub","doi":"10.21542/gcsp.2021.20","DOIUrl":"https://doi.org/10.21542/gcsp.2021.20","url":null,"abstract":"<p><p>Computations of fractional flow reserve, based on CT coronary angiography and computational fluid dynamics (CT-based FFR) to assess the severity of coronary artery stenosis, was introduced around a decade ago and is now one of the most successful applications of computational fluid dynamic modelling in clinical practice. Although the mathematical modelling framework behind this approach and the clinical operational model vary, its clinical efficacy has been demonstrated well in general. In this review, technical elements behind CT-based FFR computation are summarised with some key assumptions and challenges. Examples of these challenges include the complexity of the model (such as blood viscosity and vessel wall compliance modelling), whose impact has been debated in the research. Efforts made to address the practical challenge of processing time are also reviewed. Then, further application areas-myocardial bridge, renal stenosis and lower limb stenosis-are discussed along with specific challenges expected in these areas.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":" ","pages":"e202120"},"PeriodicalIF":0.0,"publicationDate":"2021-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8587224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39644639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coronary ectasia due to primary aldosteronism in an exceptional presentation.","authors":"Hammam Rasras,&nbsp;Falmata Laouan Brem,&nbsp;Noha El Ouafi,&nbsp;Nabila Ismaili","doi":"10.21542/gcsp.2021.22","DOIUrl":"https://doi.org/10.21542/gcsp.2021.22","url":null,"abstract":"<p><p>Primary aldosteronism as a cause of coronary ectasia has been reported only once in the literature and was associated with an aortic aneurysm. Here, we report a second presentation in our cardiology department - a 59-year-old female patient who was admitted for unstable angina. Coronary angiography revealed an ectasia of two major coronary arteries. An etiological assessment revealed an idiopathic primary aldosteronism.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":" ","pages":"e202122"},"PeriodicalIF":0.0,"publicationDate":"2021-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8587354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39644641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertriglyceridaemia: contemporary management of a neglected cardiovascular risk factor.","authors":"Tina Z Khan,&nbsp;Ulrike Schatz,&nbsp;Stefan R Bornstein,&nbsp;Mahmoud Barbir","doi":"10.21542/gcsp.2021.19","DOIUrl":"10.21542/gcsp.2021.19","url":null,"abstract":"<p><p>Hypertriglyceridaemia represents one of the most prevalent lipid abnormalities, however it is often eclipsed by focus on LDL cholesterol and is frequently overlooked by clinicians, despite it being an important cardiovascular risk factor. For most patients, hypertriglyceridaemia arises from a combination of environmental factors and multiple genetic variations with small effects. Even in cases with apparent familial clustering of hypertriglyceridaemia, a monogenetic cause is rarely identified. Common secondary causes include obesity, uncontrolled diabetes, alcohol, and various commonly used drugs. Correction of these factors, along with lifestyle optimisation, should be prioritised prior to commencing medication. The goal of drug treatment is to reduce the risk of cardiovascular disease in those with moderate hypertriglyceridaemia and the risk of pancreatitis in those with severe hypertriglyceridaemia. Recent and ongoing trials demonstrate the important role of triglycerides (TG) in determining residual risk in patients with cardiovascular disease (CVD) already established on statin therapy. Novel and emerging data on omega-3 fatty acids (high-dose icosapent ethyl) and the selective PPAR modulator pemafibrate are eagerly awaited and may provide further clarity for clinicians in determining which patients will benefit from TG lowering and help inform clinical guidelines. There are numerous novel therapies on the horizon that reduce TG by decreasing the activity of proteins that inhibit lipoprotein lipase such as apolipoprotein C-III (including Volanesorsen which was recently approved in Germany) and ANGPTL 3/4 which may offer promise for the future.</p>","PeriodicalId":12669,"journal":{"name":"Global Cardiology Science & Practice","volume":" ","pages":"e202119"},"PeriodicalIF":0.0,"publicationDate":"2021-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8587207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39644638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}