Genetics and Genomics of Congenital Heart Disease.

Abstract:

:Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD. The discoveries from CHD genetic studies draw attention to biological pathways that simultaneously open the door to a better understanding of cardiac development and affect clinical care of patients with CHD. Finally, we address clinical genetic evaluation of patients and families affected by CHD.

journal_name

Circ Res

journal_title

Circulation research

authors

Zaidi S,Brueckner M

doi

10.1161/CIRCRESAHA.116.309140

subject

Has Abstract

pub_date

2017-03-17 00:00:00

pages

923-940

issue

6

eissn

0009-7330

issn

1524-4571

pii

CIRCRESAHA.116.309140

journal_volume

120

pub_type

杂志文章,评审
  • Cardiomyopathy of the aging human heart. Myocyte loss and reactive cellular hypertrophy.

    abstract::To determine the effects of aging on the human myocardium, 67 hearts were obtained from individuals who died from causes other than cardiovascular disease. The age interval examined was 17-90 years. Regression analysis demonstrated that the aging process was characterized by a loss of 38 million and 14 million myocyte...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.68.6.1560

    authors: Olivetti G,Melissari M,Capasso JM,Anversa P

    更新日期:1991-06-01 00:00:00

  • Release of endogenous catecholamines in the ischemic myocardium of the rat. Part B: Effect of sympathetic nerve stimulation.

    abstract::The contribution of centrally originating sympathetic activity to the myocardial extracellular accumulation of noradrenaline during the early phase of ischemia has been assessed in a perfused (Langendorff) rat heart preparation isolated except for its sympathetic innervation. A 10-minute electrical stimulation (4 Hz, ...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.55.5.702

    authors: Dart AM,Schömig A,Dietz R,Mayer E,Kübler W

    更新日期:1984-11-01 00:00:00

  • Reduction of canine myocardial infarct size by a diffusible reactive oxygen metabolite scavenger. Efficacy of dimethylthiourea given at the onset of reperfusion.

    abstract::A number of scavengers of reactive oxygen metabolites reduce myocardial injury when given before ischemia and reperfusion, but few, if any, have proven to be effective when given near the onset of reperfusion. This is particularly true when infarct size is measured after at least 48 hours of reperfusion, when the full...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.68.6.1652

    authors: Carrea FP,Lesnefsky EJ,Repine JE,Shikes RH,Horwitz LD

    更新日期:1991-06-01 00:00:00

  • Expression of mutant p193 and p53 permits cardiomyocyte cell cycle reentry after myocardial infarction in transgenic mice.

    abstract::Previous studies have demonstrated that expression of p193 and p53 mutants with dominant-interfering activities renders embryonic stem cell-derived cardiomyocytes responsive to the growth promoting activities of the E1A viral oncoproteins. In this study, the effects of p53 and p193 antagonization on cardiomyocyte cell...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.RES.0000132279.99249.f4

    authors: Nakajima H,Nakajima HO,Tsai SC,Field LJ

    更新日期:2004-06-25 00:00:00

  • Modulation of Ca2+ channels by cyclic nucleotide cross activation of opposing protein kinases in rabbit portal vein.

    abstract::Cyclic nucleotides are known to modify voltage-gated (L-type) Ca2+ channel activity in vascular smooth muscle cells, but the exact mechanism(s) underlying these effects is not well defined. The purpose of the present study was to investigate the modulatory role of the cAMP- and cGMP-dependent protein kinase (PKA and P...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.82.5.557

    authors: Ruiz-Velasco V,Zhong J,Hume JR,Keef KD

    更新日期:1998-03-23 00:00:00

  • Substrate-induced changes in the lipid content of ischemic and reperfused myocardium. Its relation to hemodynamic recovery.

    abstract::To investigate the effect of lactate, pyruvate, and glucose on the endogenous levels of lipids in the normoxic, ischemic, and reperfused myocardium, isolated working rat hearts were exposed to various grades of ischemic insult (15, 30, or 45 minutes). Glucose was present as the basal substrate in the perfusion medium,...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.72.1.176

    authors: de Groot MJ,Coumans WA,Willemsen PH,van der Vusse GJ

    更新日期:1993-01-01 00:00:00

  • Phorbol diester modulates alpha-adrenergic receptor-coupled calcium efflux and alpha-adrenergic receptor number in cultured vascular smooth muscle cells.

    abstract::The phorbol ester 12-O-tetradecanoyl phorbol-13-acetate was used to probe the role of protein kinase-C in the modulation of alpha-adrenergic receptor-coupled calcium efflux in cultured vascular smooth muscle cells derived from rabbit aorta. Exposure of cells to 12-O-tetradecanoyl phorbol-13-acetate for 6 minutes cause...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.58.3.393

    authors: Colucci WS,Gimbrone MA Jr,Alexander RW

    更新日期:1986-03-01 00:00:00

  • Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium.

    abstract::The pulmonary vein is sleeved by myocardium, which is a major source of atrial fibrillation and is involved in congenital sinus venosus defects. Little is known about the cellular origin and mechanism of formation of the pulmonary myocardium. We observed a biphasic process of pulmonary myocardium formation in mice. Fi...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/CIRCRESAHA.107.161182

    authors: Mommersteeg MT,Brown NA,Prall OW,de Gier-de Vries C,Harvey RP,Moorman AF,Christoffels VM

    更新日期:2007-10-26 00:00:00

  • Randomized controlled trials of blood pressure lowering in hypertension: a critical reappraisal.

    abstract::Sixty-eight blood pressure (BP)-lowering randomized controlled trials (defined as randomized controlled trials comparing active treatment with placebo, or less active treatment, achieving a BP difference, performed between 1966 and end 2013 in cohorts with ≥ 40% hypertensive patients, and exclusive of trials in acute ...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/CIRCRESAHA.116.303641

    authors: Zanchetti A,Thomopoulos C,Parati G

    更新日期:2015-03-13 00:00:00

  • Increased glomerular capillary pressure alters glomerular cytokine expression.

    abstract::Increased glomerular capillary hydrostatic pressure (PGC) is an important hemodynamic determinant of glomerular injury, but the molecular events responsible for this association are poorly understood. PGC is normal in spontaneously hypertensive rats (SHR), but uninephrectomy leads to an increase in PGC and accelerated...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.75.5.844

    authors: Shankland SJ,Ly H,Thai K,Scholey JW

    更新日期:1994-11-01 00:00:00

  • "Tissue need" and limb collateral arterial growth. Skeletal contractile power and perfusion during collateral development in the rat.

    abstract::Among the factors that might influence collateral arterial growth after arterial occlusion, the capacity to deliver blood flow in relation to metabolic need and work performance are obvious candidates. In this study in rats after superficial femoral artery ligation, we assessed collateral arterial growth (by arteriogr...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.70.3.546

    authors: Paskins-Hurlburt AJ,Hollenberg NK

    更新日期:1992-03-01 00:00:00

  • The identification of nitric oxide as endothelium-derived relaxing factor.

    abstract::The identification of endothelium-derived relaxing factor as nitric oxide (NO) dramatically altered the course of vascular biology, as well as other biomedical disciplines. The ubiquity of this natural product of cell metabolism and the complexity of its biochemistry provide a rich source of molecular mediators of phe...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/CIRCRESAHA.113.301577

    authors: Loscalzo J

    更新日期:2013-07-05 00:00:00

  • A Path Forward for Regenerative Medicine.

    abstract::Although clinical trials of cell-based approaches to cardiovascular disease have yielded some promising results, no cell-based therapy has achieved regulatory approval for a cardiovascular indication. To broadly assess the challenges to regulatory approval and identify strategies to facilitate this goal, the Cardiac S...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/CIRCRESAHA.118.313261

    authors: Fanaroff AC,Morrow V,Krucoff MW,Seltzer JH,Perin EC,Taylor DA,Miller LW,Zeiher AM,Fernández-Avilés F,Losordo DW,Henry TD,Povsic TJ

    更新日期:2018-08-03 00:00:00

  • MCIP1 overexpression suppresses left ventricular remodeling and sustains cardiac function after myocardial infarction.

    abstract::Pathological remodeling of the left ventricle (LV) after myocardial infarction (MI) is a major cause of heart failure. Although cardiac hypertrophy after increased loading conditions has been recognized as a clinical risk factor for human heart failure, it is unknown whether post-MI hypertrophic remodeling of the myoc...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.RES.0000118597.54416.00

    authors: van Rooij E,Doevendans PA,Crijns HJ,Heeneman S,Lips DJ,van Bilsen M,Williams RS,Olson EN,Bassel-Duby R,Rothermel BA,De Windt LJ

    更新日期:2004-02-20 00:00:00

  • Chronic cerebroventricular infusion of hypertonic sodium chloride in rats reduces hypothalamic sympatho-inhibition and elevates blood pressure.

    abstract::To determine whether or not salt loading restricted to the brain would elevate blood pressure, chronically implanted osmotic minipumps were used to infuse hypertonic sodium chloride solutions made in artificial cerebrospinal fluid into a jugular vein intravenously or the third cerebral ventricle, intracerebroventricul...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.54.5.566

    authors: Miyajima E,Buñag RD

    更新日期:1984-05-01 00:00:00

  • Experimental, Systems, and Computational Approaches to Understanding the MicroRNA-Mediated Reparative Potential of Cardiac Progenitor Cell-Derived Exosomes From Pediatric Patients.

    abstract:RATIONALE:Studies have demonstrated that exosomes can repair cardiac tissue post-myocardial infarction and recapitulate the benefits of cellular therapy. OBJECTIVE:We evaluated the role of donor age and hypoxia of human pediatric cardiac progenitor cell (CPC)-derived exosomes in a rat model of ischemia-reperfusion inj...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/CIRCRESAHA.116.309935

    authors: Agarwal U,George A,Bhutani S,Ghosh-Choudhary S,Maxwell JT,Brown ME,Mehta Y,Platt MO,Liang Y,Sahoo S,Davis ME

    更新日期:2017-02-17 00:00:00

  • Small guanine nucleotide-binding proteins and myocardial hypertrophy.

    abstract::The small (21 kDa) guanine nucleotide-binding protein (small G protein) superfamily comprises 5 subfamilies (Ras, Rho, ADP ribosylation factors [ARFs], Rab, and Ran) that act as molecular switches to regulate numerous cellular responses. Cardiac myocyte hypertrophy is associated with cell growth and changes in the cyt...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/01.res.86.10.1019

    authors: Clerk A,Sugden PH

    更新日期:2000-05-26 00:00:00

  • The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma.

    abstract::The dystrophin glycoprotein complex (DGC) is a specialization of cardiac and skeletal muscle membrane. This large multicomponent complex has both mechanical stabilizing and signaling roles in mediating interactions between the cytoskeleton, membrane, and extracellular matrix. Dystrophin, the protein product of the Duc...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/01.RES.0000126574.61061.25

    authors: Lapidos KA,Kakkar R,McNally EM

    更新日期:2004-04-30 00:00:00

  • Angiotensin II stimulates NADH and NADPH oxidase activity in cultured vascular smooth muscle cells.

    abstract::The signaling pathways involved in the long-term metabolic effects of angiotensin II (Ang II) in vascular smooth muscle cells are incompletely understood but include the generation of molecules likely to affect oxidase activity. We examined the ability of Ang II to stimulate superoxide anion formation and investigated...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.74.6.1141

    authors: Griendling KK,Minieri CA,Ollerenshaw JD,Alexander RW

    更新日期:1994-06-01 00:00:00

  • Statin Toxicity.

    abstract::There is now overwhelming evidence to support lowering LDL-c (low-density lipoprotein cholesterol) to reduce cardiovascular morbidity and mortality. Statins are a class of drugs frequently prescribed to lower cholesterol. However, in spite of their wide-spread use, discontinuation and nonadherence remains a major gap ...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/CIRCRESAHA.118.312782

    authors: Ward NC,Watts GF,Eckel RH

    更新日期:2019-01-18 00:00:00

  • Hypersensitivity of BKCa to Ca2+ sparks underlies hyporeactivity of arterial smooth muscle in shock.

    abstract::Large conductance Ca(2+)-activated K(+) channels (BK(Ca)) play a critical role in blood pressure regulation by tuning the vascular smooth muscle tone, and hyposensitivity of BK(Ca) to Ca(2+) sparks resulting from its altered beta1 subunit stoichiometry underlies vasoconstriction in animal models of hypertension. Here ...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/CIRCRESAHA.107.157271

    authors: Zhao G,Zhao Y,Pan B,Liu J,Huang X,Zhang X,Cao C,Hou N,Wu C,Zhao KS,Cheng H

    更新日期:2007-08-31 00:00:00

  • Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor.

    abstract::Hypertrophic (HCM) and dilated (DCM) cardiomyopathies are inherited diseases with a high incidence of death due to electric abnormalities or outflow tract obstruction. In many of the families afflicted with either disease, causative mutations have been identified in various sarcomeric proteins. In this review, we focu...

    journal_title:Circulation research

    pub_type: 杂志文章,评审

    doi:10.1161/CIRCRESAHA.110.223842

    authors: Moore JR,Leinwand L,Warshaw DM

    更新日期:2012-07-20 00:00:00

  • Pulmonary vascular impedance analysis of adaptation to chronically elevated blood flow in the awake dog.

    abstract::Pulsatile pulmonary hemodynamics were analyzed in a chronic awake canine high flow model. Standard mean flow and pulsatile flow hemodynamics were measured and alterations in the proximal pulmonary vascular physical properties were quantified by the characteristic impedance (Zo). Pulmonary vascular resistance (PVR), wh...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.45.2.267

    authors: Hopkins RA,Hammon JW Jr,McHale PA,Smith PK,Anderson RW

    更新日期:1979-08-01 00:00:00

  • Augmented cardiopulmonary baroreflex control of forearm vascular resistance in young athletes.

    abstract::The aim of this study was to examine the effect of exercise training on reflex control of vascular resistance in human males. Forearm vascular responses to lower body negative pressure (LBNP) at -10 and -40 mm Hg were compared between highly trained young athletes (21.5 +/- 0.5 years old, n = 14) and age-matched nonat...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.59.1.43

    authors: Takeshita A,Jingu S,Imaizumi T,Kunihiko Y,Koyanagi S,Nakamura M

    更新日期:1986-07-01 00:00:00

  • Decreased cardiac concentration of cGMP kinase in hypertensive animals. An index for cardiac vascularization?

    abstract::Cyclic GMP (cGMP) kinase is intimately involved in the regulation of vascular smooth muscle tone. Its tissue concentration was determined in normotensive and hypertensive rats by use of monospecific anti-cGMP kinase antibodies. Hearts of spontaneously hypertensive rats and renovascular (Goldblatt II) hypertensive rats...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.65.5.1361

    authors: Ecker T,Göbel C,Hullin R,Rettig R,Seitz G,Hofmann F

    更新日期:1989-11-01 00:00:00

  • Long-Term Outcome of Administration of c-kit(POS) Cardiac Progenitor Cells After Acute Myocardial Infarction: Transplanted Cells Do not Become Cardiomyocytes, but Structural and Functional Improvement and Proliferation of Endogenous Cells Persist for at L

    abstract:RATIONALE:Cardiac progenitor cells (CPCs) improve left ventricular remodeling and function after acute or chronic myocardial infarction. However, the long-term (>5 weeks) effects, potential tumorigenicity, and fate of transplanted CPCs are unknown. OBJECTIVE:To assess the outcome of CPC therapy at 1 year. METHODS AND...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/CIRCRESAHA.115.307647

    authors: Tang XL,Li Q,Rokosh G,Sanganalmath SK,Chen N,Ou Q,Stowers H,Hunt G,Bolli R

    更新日期:2016-04-01 00:00:00

  • Intermittent hypoxia in rats increases myogenic tone through loss of hydrogen sulfide activation of large-conductance Ca(2+)-activated potassium channels.

    abstract:RATIONALE:Myogenic tone, an important regulator of vascular resistance, is dependent on vascular smooth muscle (VSM) depolarization, can be modulated by endothelial factors, and is increased in several models of hypertension. Intermittent hypoxia (IH) elevates blood pressure and causes endothelial dysfunction. Hydrogen...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/CIRCRESAHA.110.228999

    authors: Jackson-Weaver O,Paredes DA,Gonzalez Bosc LV,Walker BR,Kanagy NL

    更新日期:2011-06-10 00:00:00

  • Reduced myocardial reflow and increased coronary vascular resistance following prolonged myocardial ischemia in the dog.

    abstract::Studies were performed to determine whether an alteration in coronary vascular resistance and a reduction in the reflow phenomenon occurred in the blood-perfused, heparinized canine heart after various periods of myocaridal ischemia. Regional myocardial blood flow was measured with radioactive microspheres. Proximal l...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.36.6.771

    authors: Willerson JT,Watson JT,Hutton I,Templeton GH,Fixler DE

    更新日期:1975-06-01 00:00:00

  • Role of tissue renin in the regulation of aldosterone biosynthesis in the adrenal cortex of nephrectomized rats.

    abstract::The aim of the study was to investigate whether the adrenal renin-angiotensin system plays an independent role in the regulation of mineralocorticoid biosynthesis in the adrenal gland and to explore the mechanisms of this action. Twelve-week-old male Sprague-Dawley rats were studied: 22 rats were maintained on a regul...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/01.res.81.5.857

    authors: Volpe M,Gigante B,Enea I,Porcellini A,Russo R,Lee MA,Magri P,Condorelli G,Savoia C,Lindpaintner K,Rubattu S

    更新日期:1997-11-01 00:00:00

  • MicroRNA-124 controls the proliferative, migratory, and inflammatory phenotype of pulmonary vascular fibroblasts.

    abstract:RATIONALE:Pulmonary hypertensive remodeling is characterized by excessive proliferation, migration, and proinflammatory activation of adventitial fibroblasts. In culture, fibroblasts maintain a similar activated phenotype. The mechanisms responsible for generation/maintenance of this phenotype remain unknown. OBJECTIV...

    journal_title:Circulation research

    pub_type: 杂志文章

    doi:10.1161/CIRCRESAHA.114.301633

    authors: Wang D,Zhang H,Li M,Frid MG,Flockton AR,McKeon BA,Yeager ME,Fini MA,Morrell NW,Pullamsetti SS,Velegala S,Seeger W,McKinsey TA,Sucharov CC,Stenmark KR

    更新日期:2014-01-03 00:00:00