Familial co-occurrence of congenital heart defects follows distinct patterns.

Abstract:

Aims:Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. Methods and results:We calculated rates of concordance and discordance for 41 specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly more or less often than expected in families. The data show that distinct groups of cardiac malformations co-occur in families, suggesting influence from underlying developmental mechanisms. Analysis of human and mouse susceptibility genes showed that they were shared in 19% and 20% of pairs of co-occurring discordant malformations, respectively, but none of malformations that rarely co-occur, suggesting that a significant proportion of co-occurring lesions in families is caused by overlapping susceptibility genes. Conclusion:Familial CHD follow specific patterns of recurrence, suggesting a strong influence from genetically regulated developmental mechanisms. Co-occurrence of malformations in families is caused by shared susceptibility genes.

journal_name

Eur Heart J

journal_title

European heart journal

authors

Ellesøe SG,Workman CT,Bouvagnet P,Loffredo CA,McBride KL,Hinton RB,van Engelen K,Gertsen EC,Mulder BJM,Postma AV,Anderson RH,Hjortdal VE,Brunak S,Larsen LA

doi

10.1093/eurheartj/ehx314

subject

Has Abstract

pub_date

2018-03-21 00:00:00

pages

1015-1022

issue

12

eissn

0195-668X

issn

1522-9645

pii

3916728

journal_volume

39

pub_type

杂志文章,多中心研究
  • Evaluation of three methods for quantifying valvular regurgitation using gated equilibrium radionuclide ventriculography.

    abstract::The non-invasive quantification of mitral and aortic regurgitation using the left-to-right stroke count ratio (SCR) calculated with gated equilibrium radionuclide ventriculography (RNV), is affected by the overlap of atria and ventricles and the consequent difficult definition of the ventricular regions of interest (R...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.eurheartj.a062176

    authors: Sciagrà R,Voth E,Tebbe U,Schicha H,Neuhaus KL

    更新日期:1987-10-01 00:00:00

  • Modulation of the interleukin-6 signalling pathway and incidence rates of atherosclerotic events and all-cause mortality: analyses from the Canakinumab Anti-Inflammatory Thrombosis Outcomes Study (CANTOS).

    abstract:Aims:Canakinumab, a monoclonal antibody targeting interleukin (IL)-1β, reduces rates of recurrent cardiovascular events without lowering lipids. It is uncertain, however, to what extent these beneficial cardiovascular outcomes are mediated through interleukin-6 (IL-6) signalling, an issue with substantial pathophysiolo...

    journal_title:European heart journal

    pub_type: 杂志文章,随机对照试验

    doi:10.1093/eurheartj/ehy310

    authors: Ridker PM,Libby P,MacFadyen JG,Thuren T,Ballantyne C,Fonseca F,Koenig W,Shimokawa H,Everett BM,Glynn RJ

    更新日期:2018-10-07 00:00:00

  • Left ventricular thrombus following acute myocardial infarction: a prospective serial echocardiographic study of 96 patients.

    abstract::In a prospective serial study of 96 patients with acute myocardial infarction, two dimensional echocardiography identified left ventricular thrombus in 18 patients. The majority of thrombi (15) developed within the first 4 days after admission. In three patients thrombi were identified for the first time 4 months afte...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.eurheartj.a061470

    authors: Visser CA,Kan G,Lie KI,Durrer D

    更新日期:1983-05-01 00:00:00

  • The second Euro Heart Survey on acute coronary syndromes: Characteristics, treatment, and outcome of patients with ACS in Europe and the Mediterranean Basin in 2004.

    abstract:AIMS:Our study aimed to examine the management of acute coronary syndromes (ACS) in Europe and the Mediterranean basin, and to compare adherence to guidelines with that reported in the first Euro Heart Survey on ACS (EHS-ACS-I), 4 years earlier. METHODS AND RESULTS:In a prospective survey conducted in 2004 (EHS-ACS-II...

    journal_title:European heart journal

    pub_type: 杂志文章,多中心研究

    doi:10.1093/eurheartj/ehl196

    authors: Mandelzweig L,Battler A,Boyko V,Bueno H,Danchin N,Filippatos G,Gitt A,Hasdai D,Hasin Y,Marrugat J,Van de Werf F,Wallentin L,Behar S,Euro Heart Survey Investigators.

    更新日期:2006-10-01 00:00:00

  • Exercise unmasks distinct pathophysiologic features in heart failure with preserved ejection fraction and pulmonary vascular disease.

    abstract:Aims:Pulmonary hypertension (PH) and pulmonary vascular disease (PVD) are common and associated with adverse outcomes in heart failure with preserved ejection fraction (HFpEF). Little is known about the impact of PVD on the pathophysiology of exercise intolerance. Methods and results:Heart failure with preserved eject...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehy331

    authors: Gorter TM,Obokata M,Reddy YNV,Melenovsky V,Borlaug BA

    更新日期:2018-08-07 00:00:00

  • Deceptive surgical results in three siblings with familial Wolff-Parkinson-White syndrome.

    abstract::Three siblings with familial Wolff-Parkinson-White syndrome and two instances of sudden death are described. In all of them, multiple accessory pathways with a very short anterograde refractory period and rapid ventricular responses during atrial fibrillation had been documented, thus surgical ablation of the bypass t...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.eurheartj.a059652

    authors: Patruno N,Coltorti F,Pulignano G,Urbani P,Critelli G

    更新日期:1990-12-01 00:00:00

  • Substantial between-hospital variation in outcome following first emergency admission for heart failure.

    abstract:BACKGROUND:Following hospitalization with a range of cardiovascular disorders, substantial variation has been noted in clinical outcome, both between and within countries. OBJECTIVES:To examine the variation, between hospitals, in the clinical outcomes of death and readmission following hospitalization with heart fail...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1053/euhj.2001.2890

    authors: Stewart S,Demers C,Murdoch DR,McIntyre K,MacLeod ME,Kendrick S,Capewell S,McMurray JJ

    更新日期:2002-04-01 00:00:00

  • Acute effects of angiotensin-converting enzyme inhibition on coronary vasomotion in hypertensive patients.

    abstract::Coronary vasodilator responses to pharmacological (acetylcholine) and physiological (cold pressor test and flow dependent dilation) stimuli are impaired in hypertensive patients. The ability of angiotensin-converting enzyme inhibitors to restore normal coronary responses in hypertension and the potential mechanisms in...

    journal_title:European heart journal

    pub_type: 杂志文章,评审

    doi:

    authors: Nitenberg A,Antony I

    更新日期:1998-09-01 00:00:00

  • Three-dimensional imaging of the aortic valve and aortic root with computed tomography: new standards in an era of transcatheter valve repair/implantation.

    abstract::Valvular heart disease is a significant, global cause of morbidity and mortality. In the ageing population of industrialized nations, degenerative aortic stenosis has become the most common native valve disorder. Although surgical aortic valve replacement is associated with excellent clinical outcomes, a large number ...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehp260

    authors: Schoenhagen P,Tuzcu EM,Kapadia SR,Desai MY,Svensson LG

    更新日期:2009-09-01 00:00:00

  • The prevalence of left ventricular diastolic filling abnormalities in patients with suspected heart failure.

    abstract:AIMS:It is reported that one third of patients with heart failure have normal left ventricular systolic function, and may or may not have left ventricular diastolic dysfunction. We sought to define the prevalence of left ventricular diastolic filling abnormalities in a large unselected group of patients, unlike the dia...

    journal_title:European heart journal

    pub_type: 临床试验,杂志文章

    doi:10.1093/oxfordjournals.eurheartj.a015387

    authors: Davie AP,Francis CM,Caruana L,Sutherland GR,McMurray JJ

    更新日期:1997-06-01 00:00:00

  • The effect of cardiac catheterization upon management of advanced aortic and mitral valve disease.

    abstract::We assessed the incremental effect of cardiac catheterization upon the management of 93 adult patients with aortic and/or mitral valve disease, referred for surgical consideration. There were 52 patients with aortic valve disease, 29 with mitral valve disease and 12 with aortic and mitral valve disease. Prior to cardi...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:

    authors: Leitch JW,Mitchell AS,Harris PJ,Fletcher PJ,Bailey BP

    更新日期:1991-05-01 00:00:00

  • Bleeding and blood transfusion issues in patients with non-ST-segment elevation acute coronary syndromes.

    abstract::Antithrombotic therapy and invasive risk stratification in selected high-risk patients have improved outcomes from non-ST-segment elevation acute coronary syndromes (NSTE-ACS), but carry a risk of bleeding and blood transfusion. Although the true incidence of bleeding depends on the population studied (i.e. clinical t...

    journal_title:European heart journal

    pub_type: 杂志文章,评审

    doi:10.1093/eurheartj/ehm019

    authors: Rao SV,Eikelboom JA,Granger CB,Harrington RA,Califf RM,Bassand JP

    更新日期:2007-05-01 00:00:00

  • Value of exercise radionuclide ventriculography and thallium-201 scintigraphy in evaluating successful coronary angioplasty: comparison with coronary flow reserve, translesional gradient and percent diameter stenosis.

    abstract::Assessment of percutaneous transluminal coronary angioplasty (PTCA) by early radionuclide exercise test was evaluated for 11 arteries undergoing a successful procedure. Exercise thallium-201 (Tl-201) and radionuclide ventriculography (RNV) were performed within 3 days before and after PTCA and compared to % diameter s...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.eurheartj.a062282

    authors: Legrand V,Aueron FM,Bates ER,O'Neill WW,Hodgson JM,Mancini GB,Vogel RA

    更新日期:1987-04-01 00:00:00

  • Neurohormonal and clinical sex differences in heart failure.

    abstract:AIMS:Despite disparities in pathophysiology and disease manifestation between male and female patients with heart failure, studies focusing on sex differences in biomarkers are scarce. The purpose of this study was to assess sex-specific variation in clinical characteristics and biomarker levels to gain more understand...

    journal_title:European heart journal

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1093/eurheartj/eht152

    authors: Meyer S,van der Meer P,van Deursen VM,Jaarsma T,van Veldhuisen DJ,van der Wal MH,Hillege HL,Voors AA

    更新日期:2013-08-01 00:00:00

  • Blood pressure, heart rate, and mortality in chronic obstructive pulmonary disease: the SUMMIT trial.

    abstract:Aims:To characterize the relationship between blood pressure (BP) or heart rate and mortality and morbidity in chronic obstructive pulmonary disease (COPD). Methods and results:We performed post hoc analysis of baseline BP or heart rate and all-cause mortality and cardiovascular events in the SUMMIT trial. SUMMIT was ...

    journal_title:European heart journal

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1093/eurheartj/ehy451

    authors: Byrd JB,Newby DE,Anderson JA,Calverley PMA,Celli BR,Cowans NJ,Crim C,Martinez FJ,Vestbo J,Yates J,Brook RD,SUMMIT Investigators.

    更新日期:2018-09-01 00:00:00

  • Effect of exercise training in patients with an implantable cardioverter defibrillator.

    abstract:AIMS:Little research exists on exercise performance and training in patients with an implemented cardioverter defibrillator (ICD) and only in a limited number of patients. This study aims to investigate the effect of exercise training in ICD patients in comparison to the effects in other cardiac patients without an ICD...

    journal_title:European heart journal

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.ehj.2004.04.034

    authors: Vanhees L,Kornaat M,Defoor J,Aufdemkampe G,Schepers D,Stevens A,Van Exel H,Van Den Beld J,Heidbüchel H,Fagard R

    更新日期:2004-07-01 00:00:00

  • Big men and atrial fibrillation: effects of body size and weight gain on risk of atrial fibrillation in men.

    abstract:AIMS:Obesity is a recognized risk factor for atrial fibrillation (AF), partly because of the association between body mass index (BMI) and atrial volume. We aimed to determine whether other factors relating to body size were related to AF. METHODS AND RESULTS:Data were derived from a random population sample of 6903 m...

    journal_title:European heart journal

    pub_type: 杂志文章,随机对照试验

    doi:10.1093/eurheartj/ehp076

    authors: Rosengren A,Hauptman PJ,Lappas G,Olsson L,Wilhelmsen L,Swedberg K

    更新日期:2009-05-01 00:00:00

  • Models and problems in the study of myocardial ischemia and tissue protection.

    abstract::Myocardial protection and the control of ischemic injury has been highly successful clinically in the field of cardiac surgery where hearts are made globally ischemic. By contrast, protection of the regionally ischemic myocardium, as found during evolving myocardial infarction, has been less successful and, despite nu...

    journal_title:European heart journal

    pub_type: 杂志文章,评审

    doi:10.1093/eurheartj/4.suppl_c.43

    authors: Hearse DJ

    更新日期:1983-05-01 00:00:00

  • Recurrence of arrhythmia following short-term oral AMIOdarone after CATheter ablation for atrial fibrillation: a double-blind, randomized, placebo-controlled study (AMIO-CAT trial).

    abstract:AIMS:Patients undergoing catheter ablation for atrial fibrillation (AF) often experience recurrent arrhythmias within the first few months post-ablation. We aimed to investigate whether short-term use of amiodarone to prevent early arrhythmias following radiofrequency ablation for AF could reduce later recurrence. MET...

    journal_title:European heart journal

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1093/eurheartj/ehu354

    authors: Darkner S,Chen X,Hansen J,Pehrson S,Johannessen A,Nielsen JB,Svendsen JH

    更新日期:2014-12-14 00:00:00

  • Evolution of coronary atherosclerosis in patients with mild coronary artery disease studied by serial quantitative coronary angiography at 2 and 4 years follow-up. The Multicenter Anti-Atheroma Study (MAAS) Investigators.

    abstract:AIMS:Angiographic studies on the natural course of both focal and diffuse coronary atherosclerosis have not been performed before, but can both be assessed by quantitative coronary angiography. The objective of this study was to describe the natural course of focal and diffuse coronary atherosclerosis over time. METHO...

    journal_title:European heart journal

    pub_type: 杂志文章,多中心研究

    doi:10.1093/oxfordjournals.eurheartj.a015401

    authors: Vos J,de Feyter PJ,Kingma JH,Emanuelsson H,Legrand V,Winkelmann B,Dumont JM,Simoons LM

    更新日期:1997-07-01 00:00:00

  • Changes of fluid-dynamic parameters in peripheral stenoses with transcutaneous interventions.

    abstract:UNLABELLED:Peripheral vessels provide a useful in vivo haemodynamic model allowing evaluation of local intravascular fluid dynamics. Velocity measurements using a 0.018 inch Doppler-tipped angioplasty guidewire, quantitative angiography and laboratory data were gathered from 45 patients with a total of 48 percutaneous ...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/16.suppl_j.60

    authors: Wellnhofer E,Biamino G,Sauer HU,Trebeljahr A,Stalke J,Ragg C,Oswald H,Gotze S,Fleck E,Felix R

    更新日期:1995-10-01 00:00:00

  • Adenosine technetium-99m sestamibi (SPECT) for the early assessment of jeopardized myocardium after acute myocardial infarction.

    abstract::The purpose of this study was to evaluate the accuracy of adenosine Tc-99m sestamibi single photon emission computed tomography (SPECT) in the detection of jeopardized myocardium early after acute myocardial infarction. Coronary arteriography and myocardial scintigraphy were performed in 50 consecutive patients with a...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.eurheartj.a061074

    authors: Claeys MJ,Vrints CJ,Krug B,Bosmans JM,Blockx PP,Bossaert LL,Snoeck JP

    更新日期:1995-09-01 00:00:00

  • Effects of insulin on left ventricular function during dynamic exercise in overweight and obese subjects.

    abstract:AIMS:We designed this study in order to determine the effect of insulin on cardiac function in overweight and obese subjects during exercise. METHODS AND RESULTS:The cardiac function of 62 normal glucose tolerant subjects, aged 30-40 and divided into normal weight (group 1, n=22, BMI 20-24.9 kg/m(2)), overweight (grou...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehi271

    authors: Sasso FC,Carbonara O,Nasti R,Marfella R,Esposito K,Rambaldi P,Mansi L,Salvatore T,Torella R,Cozzolino D

    更新日期:2005-06-01 00:00:00

  • Current therapy and outcome of Eisenmenger syndrome: data of the German National Register for congenital heart defects.

    abstract:AIMS:We aimed to assess the contemporary outcome of Eisenmenger syndrome (ES), delineate the use of disease targeting therapies (DTT) in these patients and to investigate the effect of treatment on outcome in the community. METHODS AND RESULTS:Patients with ES were systematically identified from the German National Re...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehv743

    authors: Diller GP,Körten MA,Bauer UM,Miera O,Tutarel O,Kaemmerer H,Berger F,Baumgartner H,German Competence Network for Congenital Heart Defects Investigators.

    更新日期:2016-05-07 00:00:00

  • Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.

    abstract:AIMS:Cardiomyopathy produces significant mortality in patients with Friedreich ataxia (FA), a genetic disorder that produces intra-mitochondrial iron accumulation. We sought to test the hypothesis that abnormal myocardial perfusion reserve and fibrosis represent early manifestations of cardiomyopathy. METHODS AND RESU...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehq443

    authors: Raman SV,Phatak K,Hoyle JC,Pennell ML,McCarthy B,Tran T,Prior TW,Olesik JW,Lutton A,Rankin C,Kissel JT,Al-Dahhak R

    更新日期:2011-03-01 00:00:00

  • Oxidative modification of tropomyosin and myocardial dysfunction following coronary microembolization.

    abstract:AIMS:We addressed a potential mechanism of myocardial dysfunction following coronary microembolization at the level of myofibrillar proteins. METHODS AND RESULTS:Anaesthetized pigs underwent intracoronary infusion of microspheres. After 6 h, the microembolized areas (MEA) had decreased systolic wall thickening to 38 +...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehi751

    authors: Canton M,Skyschally A,Menabò R,Boengler K,Gres P,Schulz R,Haude M,Erbel R,Di Lisa F,Heusch G

    更新日期:2006-04-01 00:00:00

  • Prospective, randomized trial of bioresorbable scaffolds vs. everolimus-eluting stents in patients undergoing coronary stenting for myocardial infarction: the Intracoronary Scaffold Assessment a Randomized evaluation of Absorb in Myocardial Infarction (IS

    abstract:Aims:Bioresorbable scaffolds (BRS) provide short-term coronary artery scaffolding and drug delivery. Although prior trials showed a higher rate of device failure compared with conventional drug-eluting stents (DES), only a single trial investigated patients undergoing percutaneous coronary intervention (PCI) for acute ...

    journal_title:European heart journal

    pub_type: 杂志文章,随机对照试验

    doi:10.1093/eurheartj/ehy710

    authors: Byrne RA,Alfonso F,Schneider S,Maeng M,Wiebe J,Kretov E,Bradaric C,Rai H,Cuesta J,Rivero F,Hoppmann P,Schlichtenmaier J,Christiansen EH,Cassese S,Joner M,Schunkert H,Laugwitz KL,Kastrati A

    更新日期:2019-01-07 00:00:00

  • Marathon run: cardiovascular adaptation and cardiovascular risk.

    abstract::The first marathon run as an athletic event took place in the context of the Olympic Games in 1896 in Athens, Greece. Today, participation in a 'marathon run' has become a global phenomenon attracting young professional athletes as well as millions of mainly middle-aged amateur athletes worldwide each year. One of the...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/eht502

    authors: Predel HG

    更新日期:2014-11-21 00:00:00

  • In vivo heating of pacemaker leads during magnetic resonance imaging.

    abstract:AIMS:Magnetic resonance imaging (MRI) is well established as an important diagnostic tool in medicine. However, the presence of a cardiac pacemaker is usually regarded as a contraindication for MRI due to safety reasons. In this study, heating effects at the myocardium-pacemaker lead tip interface have been investigate...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/ehi009

    authors: Luechinger R,Zeijlemaker VA,Pedersen EM,Mortensen P,Falk E,Duru F,Candinas R,Boesiger P

    更新日期:2005-02-01 00:00:00

  • Endothelial mineralocorticoid receptor activation mediates endothelial dysfunction in diet-induced obesity.

    abstract:AIMS:Aldosterone plays a crucial role in cardiovascular disease. 'Systemic' inhibition of its mineralocorticoid receptor (MR) decreases atherosclerosis by reducing inflammation and oxidative stress. Obesity, an important cardiovascular risk factor, is an inflammatory disease associated with increased plasma aldosterone...

    journal_title:European heart journal

    pub_type: 杂志文章

    doi:10.1093/eurheartj/eht095

    authors: Schäfer N,Lohmann C,Winnik S,van Tits LJ,Miranda MX,Vergopoulos A,Ruschitzka F,Nussberger J,Berger S,Lüscher TF,Verrey F,Matter CM

    更新日期:2013-12-01 00:00:00