Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies.

Abstract:

:Genetic analysis can be performed to identify the molecular substrate of inherited arrhythmogenic diseases; however, the role of this information in helping the management of patients is still debated. Here, we support the view that the practical value of genetic analysis is different in the various inherited conditions and that it is strongly influenced by the amount of information available in each disease about genotype-phenotype correlations. In some diseases, clinical management of patients is profoundly affected by the type of the underlying genetic defect; therefore, in these conditions, there is a high priority to introduce genetic analysis into clinical practice. In the absence of genotype-phenotype correlations, genetic testing still can be very useful when there is a clinical advantage in establishing presymptomatic diagnosis or when screening of family members may point to reproductive counseling. Finally, there is a high priority for introducing genetic testing for those genetic diseases in which a limited number of genes allow a high yield of successfully genotyped patients. We have developed a "score" to compare the value of genetic testing in arrhythmogenic diseases and to convey our view that the clinical role of genetic analysis is different in the various inherited cardiomyopathies and channelopathies. Healthcare authorities should become responsive to the advancement of knowledge in this field and should help facilitate access to genotyping for families affected by those conditions in which genetic analysis provides useful information for clinical management.

journal_name

Circulation

journal_title

Circulation

authors

Priori SG,Napolitano C

doi

10.1161/CIRCULATIONAHA.105.563205

subject

Has Abstract

pub_date

2006-02-28 00:00:00

pages

1130-5

issue

8

eissn

0009-7322

issn

1524-4539

pii

113/8/1130

journal_volume

113

pub_type

杂志文章,评审
  • Preconditioning of human myocardium with adenosine during coronary angioplasty.

    abstract:BACKGROUND:It is unknown whether adenosine can precondition human myocardium against ischemia in vivo. METHODS AND RESULTS:Thirty patients were randomized to receive a 10-minute intracoronary infusion of adenosine (2 mg/min) or normal saline; 10 minutes later, they underwent percutaneous transluminal coronary angiopla...

    journal_title:Circulation

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1161/01.cir.95.11.2500

    authors: Leesar MA,Stoddard M,Ahmed M,Broadbent J,Bolli R

    更新日期:1997-06-03 00:00:00

  • The effects of airway pressure on cardiac function in intact dogs and man.

    abstract::Ventilation with positive end-expiratory pressure (PEEP) is associated with reduced cardiac output, but the mechanisms involved are controversial. Possible explanations include increased intrathoracic pressure, reflex changes in myocardial inotropism, pulmonary vascular obstruction and abnormal ventricular interaction...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.66.1.108

    authors: Rankin JS,Olsen CO,Arentzen CE,Tyson GS,Maier G,Smith PK,Hammon JW Jr,Davis JW,McHale PA,Anderson RW,Sabiston DC Jr

    更新日期:1982-07-01 00:00:00

  • ACE inhibition attenuates sympathetic coronary vasoconstriction in patients with coronary artery disease.

    abstract:BACKGROUND:In humans, angiotensin converting enzyme (ACE) inhibition attenuates the vasoconstriction induced by sympathetic stimulation in a number of peripheral districts. Whether this is also the case in the coronary circulation is unknown, however. METHODS AND RESULTS:In nine normotensive patients with angiographic...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.85.6.2004

    authors: Perondi R,Saino A,Tio RA,Pomidossi G,Gregorini L,Alessio P,Morganti A,Zanchetti A,Mancia G

    更新日期:1992-06-01 00:00:00

  • Refining Prediction of Atrial Fibrillation-Related Stroke Using the P2-CHA2DS2-VASc Score.

    abstract:BACKGROUND:In people with atrial fibrillation (AF), periods of sinus rhythm present an opportunity to detect prothrombotic atrial remodeling through measurement of P-wave indices (PWIs)-prolonged P-wave duration, abnormal P-wave axis, advanced interatrial block, and abnormal P-wave terminal force in lead V1. We hypothe...

    journal_title:Circulation

    pub_type: 杂志文章,多中心研究

    doi:10.1161/CIRCULATIONAHA.118.035411

    authors: Maheshwari A,Norby FL,Roetker NS,Soliman EZ,Koene RJ,Rooney MR,O'Neal WT,Shah AM,Claggett BL,Solomon SD,Alonso A,Gottesman RF,Heckbert SR,Chen LY

    更新日期:2019-01-08 00:00:00

  • Effects of stress and beta-blockade on platelet function.

    abstract::Platelet function can be assessed by various techniques in vitro or in vivo, but methodological problems in the field are considerable. By use of the conventional in vitro technique (Born aggregometry), it has been shown that sympathoadrenal activation in vivo (e.g., mental stress, epinephrine infusions, exercise, and...

    journal_title:Circulation

    pub_type: 杂志文章,评审

    doi:

    authors: Hjemdahl P,Larsson PT,Wallén NH

    更新日期:1991-12-01 00:00:00

  • A key role for matrix metalloproteinases and neutral sphingomyelinase-2 in transplant vasculopathy triggered by anti-HLA antibody.

    abstract:BACKGROUND:Outcomes for organ transplantation are constantly improving because of advances in organ preservation, surgical techniques, immune clinical monitoring, and immunosuppressive treatment preventing acute transplant rejection. However, chronic rejection including transplant vasculopathy still limits long-term pa...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/CIRCULATIONAHA.111.021790

    authors: Galvani S,Trayssac M,Augé N,Thiers JC,Calise D,Krell HW,Sallusto F,Kamar N,Rostaing L,Thomsen M,Nègre-Salvayre A,Salvayre R

    更新日期:2011-12-13 00:00:00

  • Coronary collateral function in patients without occlusive coronary artery disease.

    abstract::Little is known of the functional capacity of coronary collaterals in humans without occlusive coronary artery disease. We, therefore, measured peripheral coronary pressure (PCP) and retrograde flow (RF) from coronary arteries at aortic valve replacement in seven patients without occlusive coronary artery disease. Usi...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.51.1.118

    authors: Goldstein RE,Michaelis LL,Morrow AG,Epstein SE

    更新日期:1975-01-01 00:00:00

  • Propranolol therapy in patients with acute myocardial infarction: the Beta-Blocker Heart Attack Trial.

    abstract::The Beta-Blocker Heart Attack Trial was a multicenter, randomized, double-blind, placebo-controlled trial of propranolol therapy in 3837 men and women with acute myocardial infarction. The patients began their treatment 5-21 days after hospital admission (mean 13.8 days). During an average follow-up of 25 months, ther...

    journal_title:Circulation

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Goldstein S

    更新日期:1983-06-01 00:00:00

  • Serum antibodies against Chlamydia pneumoniae outer membrane protein cross-react with the heavy chain of immunoglobulin in the wall of abdominal aortic aneurysms.

    abstract:BACKGROUND:Chlamydia pneumoniae (Cp) has been demonstrated in arteries and abdominal aortic aneurysms (AAAs). However, the validity of the methods used is questioned, and antibiotic treatment trials have thus far shown disappointing results. Nevertheless, antibodies against the Cp outer membrane proteins (OMPs) have be...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.CIR.0000127772.58427.7E

    authors: Lindholt JS,Støvring J,Østergaard L,Urbonavicius S,Henneberg EW,Honoré B,Vorum H

    更新日期:2004-05-04 00:00:00

  • Marfan syndrome. Long-term survival and complications after aortic aneurysm repair.

    abstract:BACKGROUND:Development of surgical therapy for aortic aneurysms and dissections has led to treatment of the life-threatening cardiovascular complications associated with Marfan syndrome. The present study determines the effect of surgical therapy on the life expectancy of patients with Marfan syndrome and the clinical ...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.91.3.728

    authors: Finkbohner R,Johnston D,Crawford ES,Coselli J,Milewicz DM

    更新日期:1995-02-01 00:00:00

  • Endothelial cell damage and thrombus formation after partial arterial constriction: relevance to the role of coronary artery spasm in the pathogenesis of myocardial infarction.

    abstract::The left anterior descending coronary artery of four dogs and the right common carotid artery of 15 rabbits were subjected to 40-60% reduction in transluminal diameter for 1 hour by partial ligation with suture thread. Scanning electron microscopic examination of the luminal surface of these vessels revealed endotheli...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.63.3.476

    authors: Gertz SD,Uretsky G,Wajnberg RS,Navot N,Gotsman MS

    更新日期:1981-03-01 00:00:00

  • Cholesterol Efflux Capacity, High-Density Lipoprotein Particle Number, and Incident Cardiovascular Events: An Analysis From the JUPITER Trial (Justification for the Use of Statins in Prevention: An Intervention Trial Evaluating Rosuvastatin).

    abstract:BACKGROUND:Recent failures of drugs that raised high-density lipoprotein (HDL) cholesterol levels to reduce cardiovascular events in clinical trials have led to increased interest in alternative indices of HDL quality, such as cholesterol efflux capacity, and HDL quantity, such as HDL particle number. However, no studi...

    journal_title:Circulation

    pub_type: 杂志文章,随机对照试验

    doi:10.1161/CIRCULATIONAHA.116.025678

    authors: Khera AV,Demler OV,Adelman SJ,Collins HL,Glynn RJ,Ridker PM,Rader DJ,Mora S

    更新日期:2017-06-20 00:00:00

  • Extensive myocardial fiber disarray in aortic and pulmonary atresia. Relevance to hypertrophic cardiomyopathy.

    abstract::Myocardial fiber disarray is a distinctive histopathologic finding seen in asymmetric hypertrophic cardiomyopathy. We studied 14 hearts with aortic atresia and intact interventricular septum, six hearts with pulmonic atresia and intact interventricular septum, eight normal infant hearts matched for age of the study he...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.67.1.191

    authors: Bulkley BH,D'Amico B,Taylor AL

    更新日期:1983-01-01 00:00:00

  • Targeted molecular probes for imaging atherosclerotic lesions with magnetic resonance using antibodies that recognize oxidation-specific epitopes.

    abstract:BACKGROUND:Oxidized low-density lipoprotein plays a key role in the initiation, progression, and destabilization of atherosclerotic plaques and is present in macrophages and the lipid pool. The aim of this study was to assess the feasibility of magnetic resonance imaging of atherosclerotic lesions in mice using micelle...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/CIRCULATIONAHA.107.757120

    authors: Briley-Saebo KC,Shaw PX,Mulder WJ,Choi SH,Vucic E,Aguinaldo JG,Witztum JL,Fuster V,Tsimikas S,Fayad ZA

    更新日期:2008-06-24 00:00:00

  • A Population-Based Study of Abdominal Aortic Aneurysm Treatment in Finland 2000 to 2014.

    abstract:BACKGROUND:In the event of rupture of an abdominal aortic aneurysm (AAA), mortality is very high. AAA prevalence and incidence of ruptures have been reported to be decreasing. The treatment of AAA has also undergone a change in recent decades with a shift toward endovascular aneurysm repair (EVAR). Our aim was to evalu...

    journal_title:Circulation

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1161/CIRCULATIONAHA.117.028259

    authors: Laine MT,Laukontaus SJ,Sund R,Aho PS,Kantonen I,Albäck A,Venermo M

    更新日期:2017-10-31 00:00:00

  • An important complication of Hancock mitral valve replacement in children.

    abstract::Nine children ages 2--15 years have undergone mitral valve replacement (MVR) with Hancock porcine heterograft valves for severe mitral insufficiency. The etiology of the mitral valve disease was rheumatic in two patients, and congenital in seven. Porcine valve sizes ranged from 19--31 mm. Follow-up has been from 1.6 t...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.60.2.98

    authors: Kutsche LM,Oyer P,Shumway N,Baum D

    更新日期:1979-08-01 00:00:00

  • Noninvasive assessment of cardiac function and ventricular dyssynergy by precordial Q wave mapping in anterior myocardial infarction.

    abstract::To determine whether multiple lead precordial electrocardiographic recordings offer an improved index for noninvasive estimation of left ventricular hemodynamic function and segmental dyssynergy, precordial mapping was performed in patients with anterior myocardial infarction, and the number of pathologic Q waves (gre...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.55.6.833

    authors: Awan NA,Miller RR,Vera Z,Janzen DA,Amsterdam EA,Mason DT

    更新日期:1977-06-01 00:00:00

  • Determinants of smooth muscle injury during balloon angioplasty.

    abstract::To study the determinants of smooth muscle injury during balloon angioplasty, we conducted a series of experiments to examine the effects of degree of arterial stretching, duration of balloon inflation, and arterial precontraction on smooth muscle injury after balloon angioplasty in isolated, perfused whole-vessel seg...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.82.6.2170

    authors: Fischell TA,Grant G,Johnson DE

    更新日期:1990-12-01 00:00:00

  • The coronary arteries and left ventricle in clinically isolated angina pectoris: a necropsy analysis.

    abstract::Certain clinical and morphologic observations are described in 27 patients with severe isolated angina pectoris of either the stable (five patients) or the unstable form (22 patients). Twenty-four patients died during or shortly after cardiac operations designed to relieve angina pectoris and three died during cardiac...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.54.3.388

    authors: Roberts WC

    更新日期:1976-09-01 00:00:00

  • Transluminal angioplasty: correlation of morphologic and angiographic findings in an experimental model.

    abstract::The morphologic consequences of transluminal angioplasty of stenotic atherosclerotic coronary arteries are unknown. This study describes the production of aortoiliac atherosclerosis in rabbits and reports the morphologic changes after transluminal angioplasty of stenotic arterial lesions. Atherosclerotic lesions were ...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.61.4.778

    authors: Block PC,Baughman KL,Pasternak RC,Fallon JT

    更新日期:1980-04-01 00:00:00

  • Transplantation of fetal myocardial tissue into the infarcted myocardium of rat. A potential method for repair of infarcted myocardium?

    abstract:BACKGROUND:Unlike skeletal myocytes, mammalian adult cardiomyocytes cannot regenerate after injury. A possible strategy to increase viability and augment ventricular function after myocardial injury is fetal myocardial tissue transplantation. The engrafted fetal cells are a potential source of growth factors and can be...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:

    authors: Leor J,Patterson M,Quinones MJ,Kedes LH,Kloner RA

    更新日期:1996-11-01 00:00:00

  • Significance of ventricular arrhythmias initiated by programmed ventricular stimulation: the importance of the type of ventricular arrhythmia induced and the number of premature stimuli required.

    abstract::An increasing number of premature ventricular stimuli are being used during programmed stimulation of the heart in the investigation of patients with documented or suspected ventricular arrhythmias. To analyze the significance of the different types of ventricular arrhythmias that are initiated, we evaluated in a pros...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.69.1.87

    authors: Brugada P,Green M,Abdollah H,Wellens HJ

    更新日期:1984-01-01 00:00:00

  • Probing the contribution of IKs to canine ventricular repolarization: key role for beta-adrenergic receptor stimulation.

    abstract:BACKGROUND:In large mammals and humans, the contribution of IKs to ventricular repolarization is still incompletely understood. METHODS AND RESULTS:In vivo and cellular electrophysiological experiments were conducted to study IKs in canine ventricular repolarization. In conscious dogs, administration of the selective ...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.CIR.0000068344.54010.B3

    authors: Volders PG,Stengl M,van Opstal JM,Gerlach U,Spätjens RL,Beekman JD,Sipido KR,Vos MA

    更新日期:2003-06-03 00:00:00

  • Hemodynamic evaluation of the heart with a nonfluoroscopic electromechanical mapping technique.

    abstract:BACKGROUND:Clinical cardiac volumetric measurement techniques are essential for assessing cardiac performance but produce significant inaccuracies in extrapolation of the volume of a three-dimensional (3D) object from two-dimensional images and lack the ability to associate cardiac electrical and mechanical activities....

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.96.10.3672

    authors: Gepstein L,Hayam G,Shpun S,Ben-Haim SA

    更新日期:1997-11-18 00:00:00

  • Role of Rho-associated kinase in neointima formation after vascular injury.

    abstract:BACKGROUND:The Rho/Rho-associated kinase (Rho-kinase) system is implicated in various cellular functions, including migration, proliferation, and apoptosis. Because a possible role of the system is suggested in neointima formation after vascular injury, we sought to examine whether a new specific Rho-kinase inhibitor, ...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.103.2.284

    authors: Shibata R,Kai H,Seki Y,Kato S,Morimatsu M,Kaibuchi K,Imaizumi T

    更新日期:2001-01-16 00:00:00

  • Relation between left ventricular oxygen consumption and pressure-volume area in conscious dogs.

    abstract:BACKGROUND:The relation between left ventricular (LV) oxygen consumption (MVO2) and pressure-volume area (PVA) developed in isolated hearts provides a powerful method to understand cardiac energetics. We investigated application of this relation to the intact circulation, determining its response to steady-state and tr...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.89.2.810

    authors: Nozawa T,Cheng CP,Noda T,Little WC

    更新日期:1994-02-01 00:00:00

  • Effect of baseline or changes in adrenergic activity on clinical outcomes in the beta-blocker evaluation of survival trial.

    abstract:BACKGROUND:Adrenergic activation is thought to be an important determinant of outcome in subjects with chronic heart failure (CHF), but baseline or serial changes in adrenergic activity have not been previously investigated in a large patient sample treated with a powerful antiadrenergic agent. METHODS AND RESULTS:Sys...

    journal_title:Circulation

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1161/01.CIR.0000141297.50027.A4

    authors: Bristow MR,Krause-Steinrauf H,Nuzzo R,Liang CS,Lindenfeld J,Lowes BD,Hattler B,Abraham WT,Olson L,Krueger S,Thaneemit-Chen S,Hare JM,Loeb HS,Domanski MJ,Eichhorn EJ,Zelis R,Lavori P

    更新日期:2004-09-14 00:00:00

  • Characterization of spatial patterns of flow within the reperfused myocardium by myocardial contrast echocardiography. Implications in determining extent of myocardial salvage.

    abstract:BACKGROUND:Since myocardial blood flow changes dynamically after reperfusion and since both hyperemia and impairment in microvascular function exist within the acutely reperfused bed, we sought to investigate the role of myocardial contrast echocardiography (MCE) in (1) defining the temporal variability in perfusion pa...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:10.1161/01.cir.88.6.2596

    authors: Villanueva FS,Glasheen WP,Sklenar J,Kaul S

    更新日期:1993-12-01 00:00:00

  • Right ventricular growth after transventricular pulmonary valvotomy and central aortopulmonary shunt for pulmonary atresia and intact ventricular septum.

    abstract::We performed transventricular pulmonary valvotomy as initial surgery in 22 consecutive patients with pulmonary atresia and intact ventricular septum who had a patent infundibulum. Nineteen patients also had placement of a central aortopulmonary shunt. All patients survived surgery, and 16 patients have had preoperativ...

    journal_title:Circulation

    pub_type: 杂志文章

    doi:

    authors: Shaddy RE,Sturtevant JE,Judd VE,McGough EC

    更新日期:1990-11-01 00:00:00

  • The effect of timolol vs placebo on angina pectoris.

    abstract::The effect of timolol vs placebo on the frequency of anginal episodes, nitroglycerin consumption and exercise performance was investigated in a double-blind, randomized, crossover study in 23 patients with angina pectoris. The optimal dose of timolol (10-30 mg twice daily) for each patient was titrated by exercise stu...

    journal_title:Circulation

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1161/01.cir.61.1.66

    authors: Aronow WS,Turbow M,Van Camp S,Lurie M,Whittaker K

    更新日期:1980-01-01 00:00:00