Abstract:
PURPOSE OF REVIEW:To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS:The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine. HCM, DCM and ARVC are cardiomyopathies usually inherited in an autosomal dominant pattern. Over 1000 pathogenic mutations have been identified: HCM in genes encoding proteins of the sarcomere, and ARVC in genes encoding proteins of the desosome. DCM shows considerably more diverse ontology, suggesting more complex pathophysiology. In addition to allelic and locus heterogeneity, reduced penetrance and variable expressivity among affected individuals can make the clinical diagnosis of 'familial cardiomyopathy' less apparent. SUMMARY:Current evidence supports the use of genetic testing in clinical practice to improve risk stratification for clinically affected patients and their at-risk relatives for hypertrophic, arrhythmogenic, and dilated cardiomyopathies. Understanding how to implement genetic testing and to evaluate at-risk family members, provide clinical implications of results as well as discuss limitations of genetic testing is essential to improving personalized care.
journal_name
Curr Opin Cardioljournal_title
Current opinion in cardiologyauthors
Wilcox JE,Hershberger REdoi
10.1097/HCO.0000000000000512subject
Has Abstractpub_date
2018-05-01 00:00:00pages
354-362issue
3eissn
0268-4705issn
1531-7080journal_volume
33pub_type
杂志文章,评审abstract::Primary cardiac tumors are rare clinical entities. Benign tumors are often amenable to surgical excision, whereas malignant tumors are seldom resectable. The literature has reported that 28 patients have undergone orthotopic heart transplantation for inoperable primary cardiac tumors. The results of these transplants ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-200003000-00010
更新日期:2000-03-01 00:00:00
abstract:PURPOSE OF REVIEW:Octogenarians represent the fastest-growing segment of the population. Over 40% manifest cardiovascular disease, frequently in an advanced state requiring surgical revascularization. Increased mortality, morbidity, and expense in this high-risk group, with decreased longevity, present a growing challe...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e328358b072
更新日期:2012-11-01 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
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abstract::The mechanisms of pathogenesis of myocarditis have remained elusive. Despite the demonstration a decade ago that persistent viral infection of the myocardium occurred in many patients, a clear description of the pathologic progression has not been forthcoming. Over the past year, a number of studies have added to the ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:
更新日期:1998-05-01 00:00:00
abstract::Large databases are being used for outcome prediction analysis with increasing frequency. This review examines four separate databases used to provide risk analysis in the cardiac surgery population. Populations in the databases range in size from 3500 to over 116,000 patients. All of the databases were applied on ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199204000-00014
更新日期:1992-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Proprotein convertase subtilisin kexin type 9 (PCSK9) inhibitors are promising therapies that inhibit the degradation of low-density lipoprotein (LDL) receptors in the hepatocyte and thus increase LDL cholesterol (LDL-C) uptake from the blood. This review summarizes main findings in the field of PCSK9...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000332
更新日期:2016-11-01 00:00:00
abstract:PURPOSE OF REVIEW:The goal of this review is to offer an overview of the use of thrombolytic therapy in acute pulmonary embolism. Clinicians including internists, surgeons, pulmonologists, and other specialists continue to face decisions regarding massive and submassive acute pulmonary embolism in their daily routines....
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e328358308c
更新日期:2012-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Statins are widely utilized for low-density lipoprotein lowering and for prevention of atherosclerotic cardiovascular disease. Although these drugs have a good safety record, increased risk of developing diabetes during extended use has recently garnered attention. Here we review clinical trial eviden...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e3283470359
更新日期:2011-07-01 00:00:00
abstract:PURPOSE OF REVIEW:Vascular disease often affects more than one territory. Atherosclerosis is a global disease affecting multiple organs/systems. Cardiovascular risk factors are associated with an increased risk for the development of arterial disease in all vascular beds but differ in their individual impacts for each ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章
doi:10.1097/HCO.0000000000000746
更新日期:2020-07-01 00:00:00
abstract::Exercise testing protocols and training regimens are well established for patients recovering from myocardial infarction or coronary artery bypass surgery. However, exercise rehabilitation programs for patients with peripheral arterial disease or left ventricular dysfunction with congestive heart failure have not bee...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199110000-00013
更新日期:1991-10-01 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::Ventricular remodeling refers to changes in ventricular geometry, volume, mass, and myocellular structure in response to myocardial injury or alteration in loading conditions. Although initially adaptive as a consequence of the initial damage to the myocardium, progressive ventricular remodeling is ultimately a malada...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199905000-00002
更新日期:1999-05-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this article is to review the current status of optimal revascularization strategies in patients presenting with multivessel coronary artery disease. RECENT FINDINGS:Coronary artery bypass surgery is the gold standard for patients with multivessel disease. Recent developments in the interv...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/01.hco.0000245738.40088.70
更新日期:2006-11-01 00:00:00
abstract::Recent evidence indicates that infections or a pathogen burden contribute to the development and progression of atherosclerosis. While the mechanism of infection contributing to the pathogenesis is not fully elucidated, I hypothesize that heat shock proteins may be a link between infections and atherosclerosis. Heat s...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-200307000-00001
更新日期:2003-07-01 00:00:00
abstract::Myocardial contrast echocardiography (MCE) is an emerging technique in which microbubble contrast agents are visualized in the coronary microvasculature. MCE is an ideal modality for the noninvasive evaluation of acute coronary syndromes because it provides portable, simultaneous assessment of regional wall motion and...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-200209000-00003
更新日期:2002-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Transseptal endocardial left-ventricular pacing has a number of potential advantages over left-ventricular epicardial pacing from the coronary sinus, for implantation of cardiac resynchronization therapy (CRT) devices. In this study we review the risks and potential benefits. RECENT FINDINGS:Permanen...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e32834dc3d4
更新日期:2012-01-01 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:Penetrating aortic ulcer (PAU) is defined as ulceration of an aortic atherosclerotic plaque penetrating through the internal elastic lamina into the media. With the advances in imaging techniques, the differential diagnosis between PAU and other aortic ulcers remains a challenge. This review aims to s...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000782
更新日期:2020-11-01 00:00:00
abstract:PURPOSE OF REVIEW:Our understanding of the interactions of genes and pathways during heart development continues to expand with our knowledge of the genetic basis of congenital heart disease. Along with the discovery of specific genes that cause lesions, recent research has focused on the interactions of some previousl...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e328337b4ce
更新日期:2010-05-01 00:00:00
abstract:PURPOSE OF REVIEW:To provide an update on the management of patients with diabetes mellitus and requiring coronary revascularization. RECENT FINDINGS:Evidence continues to show that patients with diabetes mellitus and ischemic heart disease represent a very high-risk group of patients. Choice of stent appears importan...
journal_title:Current opinion in cardiology
pub_type: 杂志文章
doi:10.1097/HCO.0000000000000421
更新日期:2017-09-01 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:For over a decade, vulnerabilities in the healthcare industry have been identified. Medical devices such as cardiovascular implantable electronic devices (CIEDs) are particularly concerning because of direct threats to patient safety and protected health information (PHI). Although these vulnerabiliti...
journal_title:Current opinion in cardiology
pub_type: 杂志文章
doi:10.1097/HCO.0000000000000815
更新日期:2021-01-01 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.0b013e32835f5a2b
更新日期:2013-05-01 00:00:00
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journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199609000-00002
更新日期:1996-09-01 00:00:00
abstract:PURPOSE OF REVIEW:Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, diagnosed by left ventricular hypertrophy of at least 15 mm maximal wall thickness (MWT). Recent studies reported a sex difference in clinical presentation, progression and outcome of HCM. This review provides an overview of ...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000612
更新日期:2019-05-01 00:00:00
abstract:PURPOSE OF REVIEW:Dyslipidaemias are noted in all stages of chronic kidney disease (CKD). Currently most evidence for their treatment comes from secondary retrospective analyses of patient subgroups with CKD recruited into clinical trials powered of hypertensive and dyslipideamic cohorts powered for cardiovascular endp...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0b013e328353b988
更新日期:2012-07-01 00:00:00
abstract::The introduction of new drugs, and a re-evaluation of older drugs, have radically changed the pharmacological management of heart failure. Angiotensin converting enzyme (ACE) inhibitors, digitalis, diuretics and the combination of nitrates and hydralazine are now used. The first Cooperative North Scandinavian Enalapri...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199407000-00005
更新日期:1994-07-01 00:00:00
abstract:PURPOSE OF REVIEW:The new pandemic of coronavirus disease-2019 (COVID-19) has produced a global tumult and has overburdened national health systems. We herein discuss the cardiovascular implications and complications of this pandemic analyzing the most recent data clustered over the last several months. RECENT FINDING...
journal_title:Current opinion in cardiology
pub_type: 杂志文章
doi:10.1097/HCO.0000000000000838
更新日期:2020-12-30 00:00:00
abstract::Despite recent advances in operative and percutaneous surgical techniques for valvular heart disease, medical management of complications of valvular disease, such as atrial fibrillation and infection, and prevention of thromboembolism remain important clinical problems. This review discusses recent data that address...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/00001573-199104000-00005
更新日期:1991-04-01 00:00:00
abstract:PURPOSE OF REVIEW:The efficacy of anticoagulation for valvular prostheses is the result of a delicate balance between the risk of thromboembolic (TE) events and bleeding. Here, we review data on anticoagulation for valve prostheses with a focus on clinical trials that address key unanswered questions. RECENT FINDINGS:...
journal_title:Current opinion in cardiology
pub_type: 杂志文章,评审
doi:10.1097/HCO.0000000000000259
更新日期:2016-03-01 00:00:00