The Journal of Pediatrics, ISSN 0022-3476, 10/2019, Volume 213, pp. 8 - 10
Journal Article
1986, ISBN 089838771X, xix, 556
Book
Nature Genetics, ISSN 1061-4036, 02/2019, Volume 51, Issue 2, pp. 198 - 199
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2019, Volume 51, Issue 2, pp. 198 - 3
[...] confocal histopathology was carried out with episcopic confocal microscopy for 3D reconstructions to assess intracardiac anatomy (valves and...
Heart | CRISPR | Phenotypes | Echocardiography | Fetuses | Confocal microscopy | Functional analysis | Genotype & phenotype | Histopathology | Microscopy | Outflow | Mutation | Ventricle | Inflow | Lesions | Informatics
Heart | CRISPR | Phenotypes | Echocardiography | Fetuses | Confocal microscopy | Functional analysis | Genotype & phenotype | Histopathology | Microscopy | Outflow | Mutation | Ventricle | Inflow | Lesions | Informatics
Journal Article
Thrombosis and Haemostasis, ISSN 0340-6245, 11/2019
Abstract Thrombocytopenia and platelet dysfunction induced by extracorporeal blood circulation are thought to contribute to postsurgical bleeding complications...
Cellular Haemostasis and Platelets | Index Medicus
Cellular Haemostasis and Platelets | Index Medicus
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 01/2019, Volume 9, p. 729
Cardiovascular malformations (CVM) are common birth defects (incidence of 2-5/100 live births). Although a genetic basis is established, in most cases the...
UNITED-STATES | DEFECTS | MYOCARDIAL-INFARCTION | gene | HYPOPLASTIC LEFT-HEART | linkage | heart | exome | DE-NOVO MUTATIONS | complex trait | DISEASE | GENETICS & HEREDITY | BICUSPID AORTIC-VALVE | GENETIC-HETEROGENEITY | EXTRACELLULAR-MATRIX | GENOME-WIDE ASSOCIATION | Case studies | Usage | Genetic aspects | Cardiovascular diseases | Exome sequencing
UNITED-STATES | DEFECTS | MYOCARDIAL-INFARCTION | gene | HYPOPLASTIC LEFT-HEART | linkage | heart | exome | DE-NOVO MUTATIONS | complex trait | DISEASE | GENETICS & HEREDITY | BICUSPID AORTIC-VALVE | GENETIC-HETEROGENEITY | EXTRACELLULAR-MATRIX | GENOME-WIDE ASSOCIATION | Case studies | Usage | Genetic aspects | Cardiovascular diseases | Exome sequencing
Journal Article
Circulation, ISSN 0009-7322, 11/2014, Volume 130, Issue 22
Journal Article
Heart Rhythm, ISSN 1547-5271, 2014, Volume 11, Issue 11, pp. 2054 - 2055
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2014, Volume 371, Issue 22, pp. 2061 - 2071
In this study, children and young adults with Marfan's syndrome were randomly assigned to receive atenolol or losartan and were followed for 3 years. There was...
MEDICINE, GENERAL & INTERNAL | AORTIC-ROOT DILATION | MULTICENTER | THERAPY | CLINICAL-TRIAL | GROWTH | DOUBLE-BLIND | RECEPTOR | BLOCKADE | DILATATION | PROGRESSION | Angiotensin II Type 1 Receptor Blockers - adverse effects | Angiotensin II Type 1 Receptor Blockers - therapeutic use | Humans | Aortic Valve Insufficiency | Child, Preschool | Infant | Male | Marfan Syndrome - physiopathology | Young Adult | Aorta - growth & development | Marfan Syndrome - drug therapy | Adrenergic beta-Antagonists - adverse effects | Adult | Female | Child | Adrenergic beta-Antagonists - therapeutic use | Aortic Aneurysm - prevention & control | Aorta - drug effects | Linear Models | Treatment Outcome | Disease-Free Survival | Atenolol - therapeutic use | Marfan Syndrome - mortality | Aorta - surgery | Losartan - therapeutic use | Atenolol - adverse effects | Losartan - adverse effects | Treatment outcome | Care and treatment | Losartan | Analysis | Adults | Dosage and administration | Children | Atenolol | Health aspects | Marfan syndrome | Risk factors | Marfan's syndrome | Connective tissue diseases | Cardiovascular disease | Clinical outcomes | Coronary vessels | Surgery | Regurgitation | Aorta | Death | Surface area | Cardiology | Drug therapy
MEDICINE, GENERAL & INTERNAL | AORTIC-ROOT DILATION | MULTICENTER | THERAPY | CLINICAL-TRIAL | GROWTH | DOUBLE-BLIND | RECEPTOR | BLOCKADE | DILATATION | PROGRESSION | Angiotensin II Type 1 Receptor Blockers - adverse effects | Angiotensin II Type 1 Receptor Blockers - therapeutic use | Humans | Aortic Valve Insufficiency | Child, Preschool | Infant | Male | Marfan Syndrome - physiopathology | Young Adult | Aorta - growth & development | Marfan Syndrome - drug therapy | Adrenergic beta-Antagonists - adverse effects | Adult | Female | Child | Adrenergic beta-Antagonists - therapeutic use | Aortic Aneurysm - prevention & control | Aorta - drug effects | Linear Models | Treatment Outcome | Disease-Free Survival | Atenolol - therapeutic use | Marfan Syndrome - mortality | Aorta - surgery | Losartan - therapeutic use | Atenolol - adverse effects | Losartan - adverse effects | Treatment outcome | Care and treatment | Losartan | Analysis | Adults | Dosage and administration | Children | Atenolol | Health aspects | Marfan syndrome | Risk factors | Marfan's syndrome | Connective tissue diseases | Cardiovascular disease | Clinical outcomes | Coronary vessels | Surgery | Regurgitation | Aorta | Death | Surface area | Cardiology | Drug therapy
Journal Article
Cardiovascular Research, ISSN 0008-6363, 11/2010, Volume 88, Issue 2, pp. 205 - 206
Journal Article
Circulation, ISSN 0009-7322, 05/2015, Volume 131, Issue 18, pp. 1590 - 1598
Heart failure | Magnetic resonance imaging | Cardiomyopathy | Dystrophin | Muscular dystrophy | DEFICIENT CARDIOMYOPATHY | heart failure | magnetic resonance imaging | CARDIAC & CARDIOVASCULAR SYSTEMS | HEART-FAILURE | dystrophin | DILATED CARDIOMYOPATHY | CONVERTING-ENZYME-INHIBITORS | MDX MOUSE MODEL | SKELETAL-MUSCLE | muscular dystrophy | PERIPHERAL VASCULAR DISEASE | STEROID-THERAPY | cardiomyopathy | BETA-BLOCKERS | VENTRICULAR DYSFUNCTION | LIFE EXPECTANCY
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2013, Volume 208, Issue 1, pp. S162 - S162
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 11/2003, Volume 42, Issue 9, pp. 1650 - 1655
OBJECTIVES: The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype...
TINMAN | DEFECTS | BAGPIPE | CARDIAC & CARDIOVASCULAR SYSTEMS | HOMEOBOX GENE NKX2-5 | TRANSCRIPTION | CSX | CSX/NKX2.5 HOMEOPROTEIN | DHAND | EXPRESSION | DROSOPHILA | Xenopus Proteins - genetics | Humans | Genotype | Tetralogy of Fallot - genetics | Homeodomain Proteins - genetics | Mutation, Missense - genetics | Heart Defects, Congenital - genetics | Homeobox Protein Nkx-2.5 | Point Mutation - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Transcription Factors | Transposition of Great Vessels - genetics | Medical colleges | Care and treatment | Genetic disorders | DNA | Genetic research | Genetic aspects | Congenital heart disease | Coronary heart disease | Heart | Genes | Mortality | Cardiovascular disease | Birth defects | Family medical history | Proteins | Studies | Genotype & phenotype | Genetic counseling | Coronary vessels | Mutation | Deoxyribonucleic acid--DNA | Veins & arteries
TINMAN | DEFECTS | BAGPIPE | CARDIAC & CARDIOVASCULAR SYSTEMS | HOMEOBOX GENE NKX2-5 | TRANSCRIPTION | CSX | CSX/NKX2.5 HOMEOPROTEIN | DHAND | EXPRESSION | DROSOPHILA | Xenopus Proteins - genetics | Humans | Genotype | Tetralogy of Fallot - genetics | Homeodomain Proteins - genetics | Mutation, Missense - genetics | Heart Defects, Congenital - genetics | Homeobox Protein Nkx-2.5 | Point Mutation - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Transcription Factors | Transposition of Great Vessels - genetics | Medical colleges | Care and treatment | Genetic disorders | DNA | Genetic research | Genetic aspects | Congenital heart disease | Coronary heart disease | Heart | Genes | Mortality | Cardiovascular disease | Birth defects | Family medical history | Proteins | Studies | Genotype & phenotype | Genetic counseling | Coronary vessels | Mutation | Deoxyribonucleic acid--DNA | Veins & arteries
Journal Article
Circulation, ISSN 0009-7322, 06/2007, Volume 115, Issue 23, pp. 3015 - 3038
The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital...
Genetics | Congenital heart disease | AHA Scientific Statements | GENOTYPE-PHENOTYPE CORRELATION | VENTRICULAR SEPTAL-DEFECT | CARDIAC & CARDIOVASCULAR SYSTEMS | HYPOPLASTIC LEFT-HEART | OF-FUNCTION MUTATIONS | MITRAL-VALVE PROLAPSE | NOONAN-SYNDROME | AHA scientific statements | genetics | ALAGILLE-SYNDROME | congenital heart disease | PERIPHERAL VASCULAR DISEASE | NKX2.5 MUTATIONS | HOLT-ORAM-SYNDROME | CHROMOSOME 22Q11 DELETIONS
Genetics | Congenital heart disease | AHA Scientific Statements | GENOTYPE-PHENOTYPE CORRELATION | VENTRICULAR SEPTAL-DEFECT | CARDIAC & CARDIOVASCULAR SYSTEMS | HYPOPLASTIC LEFT-HEART | OF-FUNCTION MUTATIONS | MITRAL-VALVE PROLAPSE | NOONAN-SYNDROME | AHA scientific statements | genetics | ALAGILLE-SYNDROME | congenital heart disease | PERIPHERAL VASCULAR DISEASE | NKX2.5 MUTATIONS | HOLT-ORAM-SYNDROME | CHROMOSOME 22Q11 DELETIONS
Journal Article
Circulation, ISSN 0009-7322, 03/2010, Volume 121, Issue 11, pp. 1277 - 1279
transcription factor | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | heart septal defects, ventricular | GENOME | CARDIOMYOPATHIES | genetics | heart septal defects, atrial | PERIPHERAL VASCULAR DISEASE | Editorials | MUTATIONS | NKX2-5 | HEMATOLOGY | STRUCTURAL VARIATION | ASSOCIATION | Genetic Predisposition to Disease - genetics | Humans | Mice, Inbred C57BL | Risk Factors | Infant | Transcription Factors - genetics | Homeodomain Proteins - genetics | Heart Defects, Congenital - genetics | Homeobox Protein Nkx-2.5 | Animals | Mice, Mutant Strains | Mice | Heart Septal Defects - genetics | Heart Diseases - genetics | Infant, Newborn | Disease Models, Animal | Causes of | Development and progression | Transcription factors | Congenital heart disease | Genetic aspects
Journal Article
JACC: Cardiovascular Imaging, ISSN 1936-878X, 2010, Volume 3, Issue 2, pp. 144 - 151
Objectives To compare a steady-state free precession cine sequence–based technique (feature tracking [FT]) to tagged harmonic phase (HARP) analysis for peak...
Cardiovascular | circumferential strain | magnetic resonance feature tracking | Duchenne Muscular Dystrophy | DENSE | SENC | CARDIAC & CARDIOVASCULAR SYSTEMS | MRI | HETEROGENEITY | HYPERTROPHIC CARDIOMYOPATHY | MOTION TRACKING | DUCHENNE | STIMULATED ECHOES | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Myocardial Contraction | Severity of Illness Index | Predictive Value of Tests | Reproducibility of Results | Ventricular Function, Left | Humans | Image Interpretation, Computer-Assisted | Male | Magnetic Resonance Imaging, Cine | Muscular Dystrophy, Duchenne - complications | Cardiomyopathies - etiology | Stroke Volume | Young Adult | Cardiomyopathies - physiopathology | Algorithms | Time Factors | Adolescent | Cardiomyopathies - diagnosis | Retrospective Studies | Child
Cardiovascular | circumferential strain | magnetic resonance feature tracking | Duchenne Muscular Dystrophy | DENSE | SENC | CARDIAC & CARDIOVASCULAR SYSTEMS | MRI | HETEROGENEITY | HYPERTROPHIC CARDIOMYOPATHY | MOTION TRACKING | DUCHENNE | STIMULATED ECHOES | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Myocardial Contraction | Severity of Illness Index | Predictive Value of Tests | Reproducibility of Results | Ventricular Function, Left | Humans | Image Interpretation, Computer-Assisted | Male | Magnetic Resonance Imaging, Cine | Muscular Dystrophy, Duchenne - complications | Cardiomyopathies - etiology | Stroke Volume | Young Adult | Cardiomyopathies - physiopathology | Algorithms | Time Factors | Adolescent | Cardiomyopathies - diagnosis | Retrospective Studies | Child
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 08/2014, Volume 64, Issue 8, pp. 832 - 839
Bicuspid aortic valve (BAV) is the most common adult congenital heart defect and is found in 0.5% to 2.0% of the general population. The term "BAV" refers to a...
roadmap | valve | bicuspid | consortium | IDENTIFY | CARDIAC & CARDIOVASCULAR SYSTEMS | STENOSIS | VARIANTS | PHENOTYPE | VENTRICULAR OUTFLOW TRACT | REPLACEMENT | DE-NOVO MUTATIONS | LEFT-HEART SYNDROME | DISEASE | ANEURYSM | Animals | Genetic Association Studies | Aortic Valve - abnormalities | Heart Valve Diseases - complications | Humans | Heart Valve Diseases - genetics | Biomedical Research | Mutation
roadmap | valve | bicuspid | consortium | IDENTIFY | CARDIAC & CARDIOVASCULAR SYSTEMS | STENOSIS | VARIANTS | PHENOTYPE | VENTRICULAR OUTFLOW TRACT | REPLACEMENT | DE-NOVO MUTATIONS | LEFT-HEART SYNDROME | DISEASE | ANEURYSM | Animals | Genetic Association Studies | Aortic Valve - abnormalities | Heart Valve Diseases - complications | Humans | Heart Valve Diseases - genetics | Biomedical Research | Mutation
Journal Article
Cardiac Electrophysiology Clinics, ISSN 1877-9182, 12/2014, Volume 6, Issue 4, pp. 723 - 731
The heritability of cardiac conduction disease has been observed and reported for decades. These diseases frequently manifest as progressive and variable...
Lev/Lenègre disease | Nav1.5 | Channelopathy | Inherited arrhythmia disorder | Cardiac conduction disease | SCN5A | Atrioventricular block | Lev/Lene`gre disease
Lev/Lenègre disease | Nav1.5 | Channelopathy | Inherited arrhythmia disorder | Cardiac conduction disease | SCN5A | Atrioventricular block | Lev/Lene`gre disease
Journal Article
Human Mutation, ISSN 1059-7794, 04/2006, Volume 27, Issue 4, pp. 388 - 388
Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen‐Tawil...
potassium channel | periodic paralysis | long QT syndrome | KCNJ2 | Andersen‐Tawil syndrome | Amino Acid Sequence | Gene Expression | Humans | Models, Molecular | Molecular Sequence Data | Male | Potassium Channels, Inwardly Rectifying - genetics | Mutation - genetics | Potassium Channels, Inwardly Rectifying - chemistry | Protein Transport | DNA Mutational Analysis | Pedigree | Electrocardiography | Female | Child | Andersen Syndrome - genetics
potassium channel | periodic paralysis | long QT syndrome | KCNJ2 | Andersen‐Tawil syndrome | Amino Acid Sequence | Gene Expression | Humans | Models, Molecular | Molecular Sequence Data | Male | Potassium Channels, Inwardly Rectifying - genetics | Mutation - genetics | Potassium Channels, Inwardly Rectifying - chemistry | Protein Transport | DNA Mutational Analysis | Pedigree | Electrocardiography | Female | Child | Andersen Syndrome - genetics
Journal Article
Circulation, ISSN 0009-7322, 03/2013, Volume 127, Issue 9, pp. 1009 - 1017
Background-Life-threatening disorders of heart rhythm may arise during infancy and can result in the sudden and tragic death of a child. We performed exome...
death, sudden, cardiac | exome | arrhythmia | calcium signaling | CARDIAC & CARDIOVASCULAR SYSTEMS | CA2+ SENSOR | LONG-QT SYNDROME | VARIANT | CHILDREN | INACTIVATION | APO-CALMODULIN | CALCIUM-BINDING | PERIPHERAL VASCULAR DISEASE | PHENYLALANINE | DYSFUNCTION | DOMAINS | Amino Acid Sequence | Calmodulin - genetics | Recurrence | Follow-Up Studies | Humans | Heart Arrest - genetics | Child, Preschool | Genetic Association Studies - methods | Molecular Sequence Data | Infant | Male | Heart Arrest - physiopathology | Heart Arrest - diagnosis | Long QT Syndrome - physiopathology | Long QT Syndrome - diagnosis | Pedigree | Long QT Syndrome - genetics | Female | Mutation | Calcium Signaling - genetics | Infant, Newborn | Cohort Studies | Gene mutations | Patient outcomes | Cardiac arrest | Physiological aspects | Causes of | Genetic aspects | Infants | Research | Children | Calmodulin | Diseases | sudden cardiac death
death, sudden, cardiac | exome | arrhythmia | calcium signaling | CARDIAC & CARDIOVASCULAR SYSTEMS | CA2+ SENSOR | LONG-QT SYNDROME | VARIANT | CHILDREN | INACTIVATION | APO-CALMODULIN | CALCIUM-BINDING | PERIPHERAL VASCULAR DISEASE | PHENYLALANINE | DYSFUNCTION | DOMAINS | Amino Acid Sequence | Calmodulin - genetics | Recurrence | Follow-Up Studies | Humans | Heart Arrest - genetics | Child, Preschool | Genetic Association Studies - methods | Molecular Sequence Data | Infant | Male | Heart Arrest - physiopathology | Heart Arrest - diagnosis | Long QT Syndrome - physiopathology | Long QT Syndrome - diagnosis | Pedigree | Long QT Syndrome - genetics | Female | Mutation | Calcium Signaling - genetics | Infant, Newborn | Cohort Studies | Gene mutations | Patient outcomes | Cardiac arrest | Physiological aspects | Causes of | Genetic aspects | Infants | Research | Children | Calmodulin | Diseases | sudden cardiac death
Journal Article