Abstract:
PURPOSE OF REVIEW:To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. RECENT FINDINGS:Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. SUMMARY:Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.
journal_name
Curr Opin Cardioljournal_title
Current opinion in cardiologyauthors
Karmouch J,Protonotarios A,Syrris Pdoi
10.1097/HCO.0000000000000509subject
Has Abstractpub_date
2018-05-01 00:00:00pages
276-281issue
3eissn
0268-4705issn
1531-7080journal_volume
33pub_type
杂志文章,评审abstract::The incidence of congenital valvular heart disease has not significantly altered in recent decades. Major factors contributing to altered profiles of acquired valvular heart disease in the past few decades include an increased elderly segment of the population and increasing recognition of nonrheumatic forms of valvul...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199603000-00002
更新日期:1996-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Hypertension and dyslipidemia frequently coexist, and endothelial dysfunction is associated with the pathophysiology of both atherosclerosis and hypertension. Evidence is convincing for an overlapping role of oxidative stress, renin-angiotensin system activation, and dyslipidemia in the genesis of end...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/01.hco.0000231401.87232.71
更新日期:2006-07-01 00:00:00
abstract::The benefit of digoxin in chronic heart failure has been debated fervently for decades. In the 1970s, the use of digoxin was challenged due to the high incidences of digitalis toxicity and the lack of data on the effects of digoxin in patients with chronic heart failure. In the 1980s, interest in digoxin was renewed a...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199705000-00004
更新日期:1997-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Patients with tetralogy of Fallot are subject to arrhythmic sequelae that substantially impact morbidity and mortality. This review focuses on recent advances in our understanding of the prevalence and types of arrhythmias encountered. Diagnostic and prognostic tools are considered and therapeutic opt...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e328341381a
更新日期:2011-01-01 00:00:00
abstract:PURPOSE OF REVIEW:Malperfusion is present in up to 40% of acute type A aortic dissections (ATAADs) and results in increased morbidity and mortality. This review presents different management strategies in patients with ATAAD and malperfusion to improve outcomes. RECENT FINDINGS:While the ideal management strategy of A...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000667
更新日期:2019-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Pulmonary hypertension is a progressive disease of the pulmonary vasculature characterized by increased vascular resistance and pressure overload of the right ventricle. This review aims to describe the diagnostic and prognostic role of echocardiography in pulmonary hypertension with particular consid...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000217
更新日期:2015-11-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e328014d945
更新日期:2007-03-01 00:00:00
abstract::Although significant pharmacologic and nonpharmacologic advances in treating hypertension during the last decade have reduced mortality and morbidity, hypertension continues to be a major health concern worldwide. Therefore, the search continues for newer specific pharmacologic treatment of this disorder. This review ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:
更新日期:1997-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Patients with multivessel coronary artery disease (CAD) may undergo revascularization by either percutaneous coronary intervention (PCI) or coronary artery bypass graft surgery (CABG). This review will discuss the use of polygenic risk scores for risk-stratification of patients with multivessel CAD in...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000560
更新日期:2018-11-01 00:00:00
abstract:PURPOSE OF REVIEW:The review summarizes recent literature on standardization of care in coronary artery bypass grafting (CABG), with particular attention to the impact of standardization on outcomes and resource utilization. RECENT FINDINGS:An increasing number of studies have demonstrated potential advantages to stan...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000113
更新日期:2014-11-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199711000-00012
更新日期:1997-11-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide an update of the literature describing the link between lipoprotein a and vascular disease. RECENT FINDINGS:There is evidence that elevated plasma lipoprotein a levels are associated with coronary heart disease, stroke and other manifestations of atherosclerosis. Several mechanisms may be ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e32832ac21a
更新日期:2009-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Bleeding has recently been identified as a major adverse outcome in patients with acute coronary syndromes. In this review, the importance of the association of bleeding with mortality and strategies to reduce bleeding with percutaneous coronary intervention are discussed. RECENT FINDINGS:Nine trials...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e32832d1ea2
更新日期:2009-07-01 00:00:00
abstract:PURPOSE OF REVIEW:In the era of percutaneous coronary intervention, surgeons are confronted with performing coronary artery bypass graft surgery on patients with previous balloon dilatation or stenting. This review evaluates the impact of previous percutaneous coronary intervention on patient survival and choice of opt...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e3282f0795d
更新日期:2007-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Natriuretic peptides, high-sensitivity cardiac troponins, and suppression of tumorigenicity 2 are novel biomarkers that reflect the intricate pathophysiology of heart failure and can thus be used for the diagnosis, management, and prognosis of heart failure. RECENT FINDINGS:This review article descri...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000254
更新日期:2016-03-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/01.hco.0000221583.48748.d9
更新日期:2006-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Studies comparing outcomes in left-sided endocarditis based on the prosthesis selected for implantation are limited and no randomized studies have been performed. The purpose of this review is to summarize the best available studies to determine what prosthesis is most appropriate when valve replaceme...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000040
更新日期:2014-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Primary cardiac tumors are a rare disease, which may have severe clinical consequences. Malignant tumors may be misdiagnosed as mixomas, with improper treatment. The aim of this review is to report how to make a differential diagnosis using old and modern tools, the latest trends in tumor classificati...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000335
更新日期:2016-11-01 00:00:00
abstract::There has been an intensive effort in the past year to identify immunologic and nonimmunologic factors in the pathogenesis of cardiac allograft vasculopathy. Significant progress has been made regarding cell proliferation and cell death, with particular focus on cell growth factors, cell death factors, and their recep...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199603000-00012
更新日期:1996-03-01 00:00:00
abstract::In addition to necrosis, apoptosis makes a significant contribution to cell death following acute myocardial ischemia; apoptosis is particularly enhanced during reperfusion. Several studies are beginning to indicate that the cell death by apoptosis may be preventable. A boost in the research in this direction has been...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-200309000-00009
更新日期:2003-09-01 00:00:00
abstract::Unusual forms and causes of ischemic heart disease include angina pectoris in the presence of normal coronary arteries (syndrome X), congenital coronary abnormalities, vasculitic disorders, and graft atherosclerosis after cardiac transplantation. There is now evidence that endothelial dysfunction of coronary resistanc...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:
更新日期:1994-07-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-200207000-00007
更新日期:2002-07-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199505000-00010
更新日期:1995-05-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/hco.0b013e32831bef53
更新日期:2009-01-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199403000-00013
更新日期:1994-03-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/01.hco.0000210302.56736.60
更新日期:2006-03-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000249
更新日期:2016-01-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000191
更新日期:2015-07-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-200105000-00001
更新日期:2001-05-01 00:00:00
abstract:PURPOSE OF REVIEW:It has been more than 4 decades since the development of Fontan operation. With the contemporary surgical strategies to treat the patients with a single ventricle physiology, the medium-term survival of the patients following Fontan operation is excellent. Nonetheless, the Fontan circulation with a pu...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000603
更新日期:2019-03-01 00:00:00