Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Abstract:

:Congenital heart disease is the most common congenital defect observed in newborns. Within the spectrum of congenital heart disease are left-sided obstructive lesions (LSOLs), which include hypoplastic left heart syndrome, aortic stenosis, bicuspid aortic valve, coarctation of the aorta, and interrupted aortic arch. These defects can arise in isolation or as a component of a defined syndrome; however, nonsyndromic defects are often observed in multiple family members and associated with high sibling recurrence risk. This clear evidence for a heritable basis has driven a lengthy search for disease-causing variants that has uncovered both rare and common variants in genes that, when perturbed in cardiac development, can result in LSOLs. Despite advancements in genetic sequencing platforms and broadening use of exome sequencing, the currently accepted LSOL-associated genes explain only 10% to 20% of patients. Further, the combinatorial effects of common and rare variants as a cause of LSOLs are emerging. In this review, we highlight the genes and variants associated with the different LSOLs and discuss the strengths and weaknesses of the present genetic associations. Furthermore, we discuss the research avenues needed to bridge the gaps in our current understanding of the genetic basis of nonsyndromic congenital heart disease.

journal_name

J Am Heart Assoc

authors

Parker LE,Landstrom AP

doi

10.1161/JAHA.120.019006

subject

Has Abstract

pub_date

2021-01-19 00:00:00

pages

e019006

issue

2

issn

2047-9980

journal_volume

10

pub_type

杂志文章
  • Cardiovascular and mortality risk of apparent resistant hypertension in women with suspected myocardial ischemia: a report from the NHLBI-sponsored WISE Study.

    abstract:BACKGROUND:Women are more likely than men to develop resistant hypertension, which is associated with excess risk of major adverse outcomes; however, the impact of resistant hypertension in women with ischemia has not been explicitly studied. In this Women's Ischemia Syndrome Evaluation (WISE) analysis, we assessed lon...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.113.000660

    authors: Smith SM,Huo T,Delia Johnson B,Bittner V,Kelsey SF,Vido Thompson D,Noel Bairey Merz C,Pepine CJ,Cooper-Dehoff RM

    更新日期:2014-02-28 00:00:00

  • Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

    abstract::Background Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by mutations within the dystrophin gene. DMD is characterized by progressive skeletal muscle degeneration and atrophy and progressive cardiomyopathy. It has been observed the severity of cardiomyopathy varies in patients with DMD. Methods ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.120.016799

    authors: Jiang X,Shao Y,Araj FG,Amin AA,Greenberg BM,Drazner MH,Xing C,Mammen PPA

    更新日期:2020-10-20 00:00:00

  • Blockade of PAR-1 Signaling Attenuates Cardiac Hypertrophy and Fibrosis in Renin-Overexpressing Hypertensive Mice.

    abstract::Background Although PAR-1 (protease-activated receptor-1) exerts important functions in the pathophysiology of the cardiovascular system, the role of PAR-1 signaling in heart failure development remains largely unknown. We tested the hypothesis that PAR-1 signaling inhibition has protective effects on the progression ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.119.015616

    authors: Yokono Y,Hanada K,Narita M,Tatara Y,Kawamura Y,Miura N,Kitayama K,Nakata M,Nozaka M,Kato T,Kudo N,Tsushima M,Toyama Y,Itoh K,Tomita H

    更新日期:2020-06-16 00:00:00

  • Excess Risk for Atherosclerotic Cardiovascular Outcomes Among US Adults With HIV in the Current Era.

    abstract::Background In the 2000s, adults with HIV had a higher risk for atherosclerotic cardiovascular disease (ASCVD) compared with those without HIV. There is uncertainty if this excess risk still exists in the United States given changes in antiretroviral therapies and increased statin use. Methods and Results We compared t...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.119.013744

    authors: Rosenson RS,Hubbard D,Monda KL,Reading SR,Chen L,Dluzniewski PJ,Burkholder GA,Muntner P,Colantonio LD

    更新日期:2020-01-07 00:00:00

  • High Prevalence of Acquired Thrombophilia Without Prognosis Value in Patients With Coronavirus Disease 2019.

    abstract::Background Recent literature reports a strong thrombotic tendency in patients hospitalized for a coronavirus disease 2019 (COVID-19) infection. This characteristic is unusual and seems specific to COVID-19 infections, especially in their severe form. Viral infections can trigger acquired thrombophilia, which can then ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.120.017773

    authors: Ferrari E,Sartre B,Squara F,Contenti J,Occelli C,Lemoel F,Levraut J,Doyen D,Dellamonica J,Mondain V,Chirio D,Risso K,Cua E,Orban JC,Ichai C,Labbaoui M,Mossaz B,Moceri P,Appert-Flory A,Fischer F,Toulon P

    更新日期:2020-11-03 00:00:00

  • Durable scar size reduction due to allogeneic mesenchymal stem cell therapy regulates whole-chamber remodeling.

    abstract:BACKGROUND:Intramyocardial injection of mesenchymal stem cells (MSCs) in chronic ischemic cardiomyopathy is associated with reverse remodeling in experimental models and humans. Here, we tested the hypothesis that allogeneic MSC therapy drives ventricular remodeling by producing durable and progressive scar size reduct...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.113.000140

    authors: Williams AR,Suncion VY,McCall F,Guerra D,Mather J,Zambrano JP,Heldman AW,Hare JM

    更新日期:2013-05-17 00:00:00

  • Obesity Is Associated With Progression of Atherosclerosis During Statin Treatment.

    abstract:BACKGROUND:This study aimed to determine the relationship of statin therapy and cardiovascular risk factors to changes in atherosclerosis in the carotid artery. METHODS AND RESULTS:Carotid magnetic resonance imaging was used to evaluate 106 hyperlipidemic participants at baseline and after 12 months of 3-hydroxy-3-met...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.116.003621

    authors: Sandfort V,Lai S,Ahlman MA,Mallek M,Liu S,Sibley CT,Turkbey EB,Lima JA,Bluemke DA

    更新日期:2016-07-13 00:00:00

  • Differences in Quality of Life Between Atrial Fibrillation Patients with Low Stroke Risk Treated With and Without Catheter Ablation.

    abstract:BACKGROUND:Impacts of a single radiofrequency ablation (RFA) on quality of life (QoL) were not well investigated in atrial fibrillation (AF) patients with low stroke risk. METHODS AND RESULTS:Nine hundred AF patients with low CHADS2 score (ie, CHADS2 ≤1) who completed both a baseline and 6-month Atrial Fibrillation Ef...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.115.002130

    authors: Bai Y,Bai R,Wu JH,Zhang T,Liu N,Shi XB,Liu XY,Liu XH,Du X,Dong JZ,Ma CS

    更新日期:2015-09-16 00:00:00

  • Atrial Fibrillation Patients Treated With Long-Term Warfarin Anticoagulation Have Higher Rates of All Dementia Types Compared With Patients Receiving Long-Term Warfarin for Other Indications.

    abstract:BACKGROUND:The mechanisms behind the association of atrial fibrillation (AF) and dementia are unknown. We previously found a significantly increased risk of dementia in AF patients taking warfarin with a low percentage of time in therapeutic range. The purpose of this study was to determine the extent to which AF itsel...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.116.003932

    authors: Bunch TJ,May HT,Bair TL,Crandall BG,Cutler MJ,Day JD,Jacobs V,Mallender C,Osborn JS,Stevens SM,Weiss JP,Woller SC

    更新日期:2016-07-11 00:00:00

  • Peripheral arterial disease and risk of atrial fibrillation and stroke: the Multi-Ethnic Study of Atherosclerosis.

    abstract:BACKGROUND:Peripheral arterial disease (PAD) shares several risk factors with atrial fibrillation (AF), and persons with PAD have an increased risk of stroke. It is unclear if PAD is associated with an increased risk for AF and whether this potential association explains the increased risk of stroke observed in those w...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.114.001270

    authors: O'Neal WT,Efird JT,Nazarian S,Alonso A,Heckbert SR,Soliman EZ

    更新日期:2014-11-17 00:00:00

  • Influence of race and sex on thrombogenicity in a large cohort of coronary artery disease patients.

    abstract:BACKGROUND:It is uncertain whether sex and race affect thrombogenicity in patients with coronary artery disease. We evaluated the effects of sex and race on thrombogenicity in patients with coronary artery disease treated with aspirin. METHODS AND RESULTS:Patients on aspirin therapy for 1 week or longer with known or ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.114.001167

    authors: Lev EI,Bliden KP,Jeong YH,Pandya S,Kang K,Franzese C,Tantry US,Gurbel PA

    更新日期:2014-10-20 00:00:00

  • Effects of Race, Cardiac Mass, and Cardiac Load on Myocardial Function Trajectories from Childhood to Young Adulthood: The Augusta Heart Study.

    abstract::Background The overall goal of this longitudinal study was to determine if the Black population has decreased myocardial function, which has the potential to lead to the early development of congestive heart failure, compared with the White population. Methods and Results A total of 673 subjects were evaluated over a ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.119.015612

    authors: Kapuku G,Howie M,Ghosh S,Doshi V,Bykhovsky M,Ange B,Halbert JD,Robinson V,Bagi Z,Harshfield G,George V

    更新日期:2021-01-18 00:00:00

  • Trends in Consent for Clinical Trials in Cardiovascular Disease.

    abstract:BACKGROUND:Cardiovascular clinical trials depend on patient enrollment. Enrollment rates appear inadequate, but little is known about how frequently patients accept or decline offers of enrollment. The objective of this study was to assess trends and predictors of patient acceptance of offers to enroll in clinical tria...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,评审

    doi:10.1161/JAHA.116.003582

    authors: Kerkhoff LA,Butler J,Kelkar AA,Shore S,Speight CD,Wall LK,Dickert NW

    更新日期:2016-06-17 00:00:00

  • Clinical Predictors and Prognostic Impact of Recovery of Wall Motion Abnormalities in Takotsubo Syndrome: Results From the International Takotsubo Registry.

    abstract::Background Left ventricular (LV) recovery in takotsubo syndrome (TTS) occurs over a wide-ranging interval, varying from hours to weeks. We sought to investigate the clinical predictors and prognostic impact of recovery time for TTS patients. Methods and Results TTS patients from the International Takotsubo Registry we...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.118.011194

    authors: Jurisic S,Gili S,Cammann VL,Kato K,Szawan KA,D'Ascenzo F,Jaguszewski M,Bossone E,Citro R,Sarcon A,Napp LC,Franke J,Noutsias M,Knorr M,Heiner S,Burgdorf C,Koenig W,Pott A,Kherad B,Rajan L,Michels G,Pfister R,Cu

    更新日期:2019-11-05 00:00:00

  • Age at Menarche and Risk of Cardiovascular Disease Outcomes: Findings From the National Heart Lung and Blood Institute-Sponsored Women's Ischemia Syndrome Evaluation.

    abstract::Background Previous studies have reported an association between the timing of menarche and cardiovascular disease ( CVD ). However, emerging studies have not examined the timing of menarche in relation to role of estrogen over a lifetime and major adverse cardiac events ( MACE ). Methods and Results A total of 648 wo...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.119.012406

    authors: Lee JJ,Cook-Wiens G,Johnson BD,Braunstein GD,Berga SL,Stanczyk FZ,Pepine CJ,Bairey Merz CN,Shufelt CL

    更新日期:2019-06-18 00:00:00

  • Pharmacodynamic Comparison of Ticagrelor Monotherapy Versus Ticagrelor and Aspirin in Patients After Percutaneous Coronary Intervention: The TEMPLATE (Ticagrelor Monotherapy and Platelet Reactivity) Randomized Controlled Trial.

    abstract::Background To assess differences in platelet inhibition during ticagrelor monotherapy (TIC) or dual therapy with ticagrelor and aspirin (TIC+ASP) in patients after percutaneous coronary intervention using a comprehensive panel of functional tests. Methods and Results In a single-center parallel group, open label, rand...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.120.016495

    authors: Johnson TW,Baos S,Collett L,Hutchinson JL,Nkau M,Molina M,Aungraheeta R,Reilly-Stitt C,Bowles R,Reeves BC,Rogers CA,Mundell SJ,Baumbach A,Mumford AD

    更新日期:2020-12-15 00:00:00

  • Automated Identification and Extraction of Exercise Treadmill Test Results.

    abstract::Background Noninvasive cardiac tests, including exercise treadmill tests (ETTs), are commonly utilized in the evaluation of patients in the emergency department with suspected acute coronary syndrome. However, there are ongoing debates on their clinical utility and cost-effectiveness. It is important to be able to use...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.119.014940

    authors: Zheng C,Sun BC,Wu YL,Lee MS,Shen E,Redberg RF,Ferencik M,Natsui S,Kawatkar AA,Musigdilok VV,Sharp AL

    更新日期:2020-03-03 00:00:00

  • Congenital Heart Disease and Risk of Suicide and Self-Harm: A Danish Nationwide Cohort Study.

    abstract::Background In this nationwide study, we used the unique Danish registries to estimate the risk of suicide and deliberate self-harm in patients with congenital heart disease (CHD). Methods and Results We identified all Danish citizens receiving a diagnosis of CHD between 1977 and 2007. As a reference cohort, we randoml...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.119.015735

    authors: Udholm S,Nyboe C,Lundbye-Christensen S,Nordentoft M,Hjortdal VE

    更新日期:2020-05-18 00:00:00

  • Statin and Aspirin Use Among Hispanic and Latino Adults at High Cardiovascular Risk: Findings From the Hispanic Community Health Study/Study of Latinos.

    abstract:BACKGROUND:Despite variations in the prevalence of cardiovascular disease and related risk factors among US Hispanic/Latino adults of diverse backgrounds, there is little information on whether disparities exist in the use of medications for the primary and secondary prevention of cardiovascular disease. We examined th...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.115.002905

    authors: Qato DM,Lee TA,Durazo-Arvizu R,Wu D,Wilder J,Reina SA,Cai J,Gonzalez F 2nd,Talavera GA,Ostfeld RJ,Daviglus ML

    更新日期:2016-03-30 00:00:00

  • Resource Utilization Reduction for Evaluation of Chest Pain in Pediatrics Using a Novel Standardized Clinical Assessment and Management Plan (SCAMP).

    abstract:BACKGROUND:Chest pain is a common reason for referral to pediatric cardiologists. Although pediatric chest pain is rarely attributable to serious cardiac pathology, extensive and costly evaluation is often performed. We have implemented a standardized approach to pediatric chest pain in our pediatric cardiology clinics...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.111.000349

    authors: Verghese GR,Friedman KG,Rathod RH,Meiri A,Saleeb SF,Graham DA,Geggel RL,Fulton DR

    更新日期:2012-04-01 00:00:00

  • High-Resolution Imaging of Interaction Between Thrombus and Stent-Retriever in Patients With Acute Ischemic Stroke.

    abstract:BACKGROUND:Currently, acute ischemic stroke is still a leading cause of mortality and morbidity. Approximately 2 years ago, mechanical thrombectomy was proven beneficial as a revolutionary new therapy for stroke in the MR-CLEAN trial (A Multicenter Randomized Clinical Trial of Endovascular Treatment for Acute Ischemic ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.118.008563

    authors: Autar ASA,Hund HM,Ramlal SA,Hansen D,Lycklama À Nijeholt GJ,Emmer BJ,de Maat MPM,Dippel DWJ,van der Lugt A,van Es ACGM,van Beusekom HMM,MR CLEAN Registry Investigators.

    更新日期:2018-06-22 00:00:00

  • Association Between Baseline, Achieved, and Reduction of CRP and Cardiovascular Outcomes After LDL Cholesterol Lowering with Statins or Ezetimibe: A Systematic Review and Meta-Analysis.

    abstract::Background Several lipid-lowering therapies reduce CRP (C-reactive protein) independently of LDL-C (low-density lipoprotein cholesterol) reduction, but the association between CRP parameters and benefits from more-intensive LDL-C lowering is inconclusive. We aimed to determine whether the benefits of more- versus less...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,meta分析

    doi:10.1161/JAHA.119.012428

    authors: Zhang XL,Lan RF,Zhang XW,Xu W,Wang L,Kang LN,Xu B

    更新日期:2019-08-20 00:00:00

  • Association of Major Depression With Risk of Ischemic Heart Disease in a Mega-Cohort of Chinese Adults: The China Kadoorie Biobank Study.

    abstract:BACKGROUND:Increasing evidence has suggested that major depression (MD) is associated with an increased risk of ischemic heart disease (IHD). We examined this association in Chinese adults using data from the China Kadoorie Biobank study. METHODS AND RESULTS:Over 0.5 million adults aged 30 to 79 years were followed fr...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,多中心研究

    doi:10.1161/JAHA.116.004687

    authors: Liu N,Pan XF,Yu C,Lv J,Guo Y,Bian Z,Yang L,Chen Y,Wu T,Chen Z,Pan A,Li L,China Kadoorie Biobank Collaborative Group.

    更新日期:2016-12-21 00:00:00

  • Limited AT1 Receptor Internalization Is a Novel Mechanism Underlying Sustained Vasoconstriction Induced by AT1 Receptor Autoantibody From Preeclampsia.

    abstract::Background Angiotensin II type 1 receptor ( AT 1R) autoantibody ( AT 1- AA ) was first identified as a causative factor in preeclampsia. Unlike physiological ligand angiotensin II (Ang II ), AT 1- AA can induce vasoconstriction in a sustained manner, causing a series of adverse effects, such as vascular injury and poo...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.118.011179

    authors: Bian J,Lei J,Yin X,Wang P,Wu Y,Yang X,Wang L,Zhang S,Liu H,Fu MLX

    更新日期:2019-03-19 00:00:00

  • Atorvastatin Has a Dose-Dependent Beneficial Effect on Kidney Function and Associated Cardiovascular Outcomes: Post Hoc Analysis of 6 Double-Blind Randomized Controlled Trials.

    abstract::Background Kidney function decreases during the lifetime, and this decline is a powerful predictor of both kidney and cardiovascular outcomes. Statins lower cardiovascular risk, which may relate to beneficial effects on kidney function. We studied whether atorvastatin influences kidney function decline and assessed th...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,随机对照试验

    doi:10.1161/JAHA.118.010827

    authors: Vogt L,Bangalore S,Fayyad R,Melamed S,Hovingh GK,DeMicco DA,Waters DD

    更新日期:2019-05-07 00:00:00

  • Randomized Controlled Trial of Social Media: Effect of Increased Intensity of the Intervention.

    abstract:BACKGROUND:A prior randomized controlled trial of social media exposure at Circulation determined that social media did not increase 30-day page views. Whether insufficient social media intensity contributed to these results is uncertain. METHODS AND RESULTS:Original article manuscripts were randomized to social media...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,随机对照试验

    doi:10.1161/JAHA.115.003088

    authors: Fox CS,Gurary EB,Ryan J,Bonaca M,Barry K,Loscalzo J,Massaro J

    更新日期:2016-04-27 00:00:00

  • Local Production of Soluble Urokinase Plasminogen Activator Receptor and Plasminogen Activator Inhibitor-1 in the Coronary Circulation Is Associated With Coronary Endothelial Dysfunction in Humans.

    abstract::Background Soluble urokinase plasminogen activator receptor (su PAR ) is a proinflammatory biomarker associated with immune activation and fibrinolysis inhibition. Plasminogen activator inhibitor ( PAI -1) is associated with excessive fibrin accumulation, thrombus formation, and atherosclerosis. The relationship betwe...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.118.009881

    authors: Corban MT,Prasad A,Nesbitt L,Loeffler D,Herrmann J,Lerman LO,Lerman A

    更新日期:2018-08-07 00:00:00

  • Novel Left Heart Catheterization Ramp Protocol to Guide Hemodynamic Optimization in Patients Supported With Left Ventricular Assist Device Therapy.

    abstract::Background Left ventricular (LV) hemodynamic assessment has been sparsely performed in patients supported on continuous-flow LV assist devices (cf LVADs ). Insight into dynamic changes of left heart parameters during ramp studies may improve LV assist device optimization and evaluate pathology. Methods and Results To ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.118.010232

    authors: Rosenbaum AN,Frantz RP,Kushwaha SS,Stulak JM,Maltais S,Behfar A

    更新日期:2019-02-19 00:00:00

  • Effects of norepinephrine reuptake inhibition on postural tachycardia syndrome.

    abstract:BACKGROUND:Postural tachycardia syndrome (POTS) is a disorder of chronic orthostatic intolerance accompanied by excessive orthostatic tachycardia. Patients with POTS commonly have comorbid conditions such as attention deficit hyperactivity disorder, depression, or fibromyalgia that are treated with medications that inh...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章,随机对照试验

    doi:10.1161/JAHA.113.000395

    authors: Green EA,Raj V,Shibao CA,Biaggioni I,Black BK,Dupont WD,Robertson D,Raj SR

    更新日期:2013-09-03 00:00:00

  • Reduced Antiplatelet Effect of Aspirin Does Not Predict Cardiovascular Events in Patients With Stable Coronary Artery Disease.

    abstract:BACKGROUND:Increased platelet aggregation during antiplatelet therapy may predict cardiovascular events in patients with coronary artery disease. The majority of these patients receive aspirin monotherapy. We aimed to investigate whether high platelet-aggregation levels predict cardiovascular events in stable coronary ...

    journal_title:Journal of the American Heart Association

    pub_type: 杂志文章

    doi:10.1161/JAHA.117.006050

    authors: Larsen SB,Grove EL,Neergaard-Petersen S,Würtz M,Hvas AM,Kristensen SD

    更新日期:2017-08-05 00:00:00